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    SMAD4 SMAD family member 4 [ Homo sapiens ]

    Gene ID: 4089, updated on 19-May-2012
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    Summary

    Official Symbol
    SMAD4provided by HGNC
    Official Full Name
    SMAD family member 4provided by HGNC
    Primary source
    HGNC:6770
    See related
    Ensembl:ENSG00000141646; HPRD:02995; MIM:600993; Vega:OTTHUMG00000132696
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    JIP; DPC4; MADH4; MYHRS
    Summary
    This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to TGF-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome. [provided by RefSeq, Oct 2009]
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    Genomic context

    Location :
    18q21.1
    Sequence :
    Chromosome: 18; NC_000018.9 (48556583..48611412)
    See SMAD4 in Epigenomics, MapViewer

    Chromosome 18 - NC_000018.9Genomic Context describing neighboring genes Neighboring gene malic enzyme 2, NAD(+)-dependent, mitochondrial Neighboring gene elaC homolog 1 (E. coli) Neighboring gene serine/arginine-rich splicing factor 10 pseudogene 1 Neighboring gene mex-3 homolog C (C. elegans)

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. Caputo V, et al. Am J Hum Genet, 2012 Jan 13. PMID 22243968.
    2. Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Le Goff C, et al. Nat Genet, 2011 Dec 11. PMID 22158539.
    3. Novel tumor suppressive function of Smad4 in serum starvation-induced cell death through PAK1-PUMA pathway. Lee SH, et al. Cell Death Dis, 2011 Dec 1. PMID 22130069.
    4. Smad4-mediated signaling inhibits intestinal neoplasia by inhibiting expression of β-catenin. Freeman TJ, et al. Gastroenterology, 2012 Mar. PMID 22115830.
    5. A novel human Smad4 mutation is involved in papillary thyroid carcinoma progression. D'Inzeo S, et al. Endocr Relat Cancer, 2012 Feb. PMID 22109972.

    See all (381) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Smad4-mediated signaling inhibits intestinal neoplasia by inhibiting expression of beta-catenin.
      Title: Smad4-mediated signaling inhibits intestinal neoplasia by inhibiting expression of β-catenin.
    2. Smad4 C324Y mutation plays an important role in thyroid carcinogenesis and can be considered as a new prognostic and therapeutic target for thyroid cancer
      Title: A novel human Smad4 mutation is involved in papillary thyroid carcinoma progression.
    3. miR-146a can directly target SMAD4, and suggest that miR-146a may play a role in the development of gastric cancer by modulating cell proliferation and apoptosis.
      Title: Increased miR-146a in gastric cancer directly targets SMAD4 and is involved in modulating cell proliferation and apoptosis.
    4. A putative splice site mutation in SMAD4 resulted in moderate transcript loss due to compromised splicing efficiency in PAH, pulmonary arterial hypertension.
      Title: Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension.
    5. Smad4 may help to identify a subset of colorectal cancer patients with early recurrence after curative therapy.
      Title: Smad4 may help to identify a subset of colorectal cancer patients with early recurrence after curative therapy.
    6. Smad4-expressed cancer tissues not only show the elevated expression of PAK1, but also support our hypothesis that Smad4 induces PUMA-mediated cell death through PAK1 suppression.
      Title: Novel tumor suppressive function of Smad4 in serum starvation-induced cell death through PAK1-PUMA pathway.
    7. Data show two miR-130a binding sites were identified in the 3'-untranslated region of the Smad4 mRNA.
      Title: MicroRNA-130a-mediated down-regulation of Smad4 contributes to reduced sensitivity to TGF-β1 stimulation in granulocytic precursors.
    8. The present report identified a previously unrecognized class of mutations in the SMAD4 gene with profound impact on development and growth.
      Title: A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
    9. We identified three distinct heterozygous missense SMAD4 mutations affecting the codon for Ile500 in 11 individuals with Myhre syndrome.
      Title: Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
    10. Data indicate that Cal27 cells stably transfected with Smad4 showed similar resveratrol effects as parental Cal27, suggegsting that a lack of resveratrol effect in Det562 cells was independent of Smad4 status in these cells.
      Title: Resveratrol selectively induces DNA Damage, independent of Smad4 expression, in its efficacy against human head and neck squamous cell carcinoma.
    Submit: New GeneRIF Correction See all (202)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

    Myhre syndrome

    Pancreatic cancer

    Polyposis, juvenile intestinal

    Summary from GeneReviews: Go to GeneReviews

    Disease Characteristics
    Juvenile polyposis syndrome (JPS) is characterized by predisposition to hamartomatous polyps in the gastrointestinal (GI) tract, specifically in the stomach, small intestine, colon, and rectum. The term "juvenile" refers to the type of polyp rather than to the age of onset of polyps. Most individuals with JPS have some polyps by age 20 years; some may have only four or five polyps over their lifetime, whereas others in the same family may have more than a hundred. If the polyps are left untreated, they may cause bleeding and anemia. Most juvenile polyps are benign; however, malignant transformation can occur. Risk of GI cancers in families with JPS ranges from 9% to 50%. Most of this increased risk is attributed to colon cancer, but cancers of the stomach, upper GI tract, and pancreas have been reported. A combined syndrome of JPS and hereditary hemorrhagic telangiectasia (HHT) (termed JPS/HHT) may be present in 15%-22% of individuals with an SMAD4 mutation.
    Diagnosis Testing
    JPS is clinically diagnosed if any one of the three following findings is present: Juvenile polyps are hamartomas with a distinct histology that differs from that of adenomas. The genes known to be associated with JPS are BMPR1A and SMAD4. Approximately 20% of individuals with JPS have mutations in BMPR1A; approximately 20% have mutations in SMAD4. Molecular genetic testing of both genes is available on a clinical basis.
    Genetic Counseling
    JPS is inherited in an autosomal dominant manner. Approximately 75% of individuals with JPS have an affected parent; approximately 25% of probands with JPS have no previous history of polyps in the family and may have the disorder as the result of a new gene mutation. Each child of an affected individual has a 50% chance of inheriting the mutation and developing JPS. Prenatal testing for pregnancies at increased risk is possible if the disease-causing mutation in the family is known. Requests for prenatal testing for conditions which (like JPS) are treatable and do not affect intellect are not common.
    References
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    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Tat tat Smad-4 inhibits Smad-3 and HIV-1 Tat-induced transcription from the HIV-1 LTR promoter and the MCP promoter through a direct association with amino acids 1-40 of Tat PubMed

    Go to the HIV-1, Human Protein Interaction Database

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_005350.1 NP_009226.1 BRCA1    BIND  PubMed BRCA1 interacts with Smad4. This interaction was modeled on a demonstrated interaction between BRCA1 from human and Smad4 from an unspecified species. 
    NP_005350.1 NT_007592.14 CDKN1A    BIND  PubMed Smad4 binds the distal region of the p21Cip1 promoter. 
    NP_005350.1 NP_005185.2 CEBPB    BIND  PubMed CEBPB (C/EBP-beta) interacts with SMAD4. This interaction was modeled on a demonstrated interaction between CEBPB and SMAD4, both from unspecified species. 
    NP_005350.1 NP_002006.2 FOXO1    BIND  PubMed FoxO1 interacts with Smad4. 
    NP_005350.1 NP_001446.1 FOXO3    BIND  PubMed FoxO3 interacts with Smad4. 
    NP_005350.1 NP_005929.1 FOXO4    BIND  PubMed FoxO4 interacts with Smad4. 
    NP_005350.1 NP_003027.1 SKI    BIND  PubMed c-Ski interacts with Smad4. This interaction was modelled on a demonstrated interaction between Smad4 from an unspecified source and human c-Ski. 
    NP_005350.1 NP_003027.1 SKI    BIND  PubMed Smad4 interacts with Ski. This interaction was modeled on a demonstrated interaction between human Smad4 and Ski from an unspecified species. 
    NP_005350.1 NP_005405.1 SKIL    BIND  PubMed Smad4 interacts with SnoN. This interaction was modeled on a demonstrated interaction between human Smad4 and SnoN from an unspecified species. 
    NP_005350.1 NP_005891.1 SMAD1    BIND  PubMed Smad4 interacts with Smad1. 
    NP_005350.1 NP_005892.1 SMAD2    BIND  PubMed Smad2 interacts with Smad4. This interaction was modeled on a demonstrated interaction between Smad2 from an unspecified species and Smad4 from an unspecified species. 
    NP_005350.1 NP_005892.1 SMAD2    BIND  PubMed Smad4 interacts with Smad2. 
    NP_005350.1 NP_005893.1 SMAD3    BIND  PubMed Smad3 interacts with Smad4. This interaction was modeled on a demonstrated interaction between Smad3 from an unspecified species and Smad4 from an unspecified species. 
    NP_005350.1 NP_005893.1 SMAD3    BIND  PubMed Smad4 interacts with Smad3. 
    NP_005350.1 NP_005852.2 STUB1    BIND  PubMed Smad4 interacts with CHIP. This interaction was modeled on a demonstrated interaction between Smad1 and CHIP, both from an unspecified species. 
    NP_005350.1 NP_003343.1 SUMO1    BIND  PubMed SMAD4 is sumoylated. 
    NP_005350.1 NP_057011.2 TGFB1I1    BIND  PubMed ARA55 interacts with Smad4. This interaction was modeled on a demonstrated interaction between human ARA55 and Smad4 from an unspecified species. 
    NP_005350.1 NP_004603.1 TGFBR1    BIND  PubMed T-beta-RI phosphorylates hMAD-4. This interaction was modeled on a demonstrated interaction between T-beta-RI from an unspecified species and human hMAD-4. 
    NP_005350.1 NP_003233.3 TGFBR2    BIND  PubMed T-beta-RII phosphorylates hMAD-4. This interaction was modeled on a demonstrated interaction between T-beta-RII from an unspecified species and human hMAD-4. 
    NP_005350.1 TRIM33    BIND  PubMed Smad4 interacts with Ecto. 
    NP_005350.1 NP_443073.1 TSSK3    BIND  PubMed SMAD4 interacts with STK22C. This interaction was modeled on a demonstrated interaction between human SMAD4 and mouse STK22C. 
    Q13485 P36896 ACVR1B    HPRD  PubMed  
    Q13485 P31749 AKT1    HPRD  PubMed  
    Q13485 P63010 AP2B1    HPRD  PubMed  
    Q13485 Q92870 APBB2    HPRD  PubMed  
    Q13485 P10275 AR    HPRD  PubMed  
    Q13485 Q13795 ARFRP1    HPRD  PubMed  
    Q13485 Q96KC2 ARL5B    HPRD  PubMed  
    Q13485 P15336 ATF2    HPRD  PubMed  
    Q13485 Activating transcription factor 7 interacting protein ATF7IP    HPRD  PubMed  
    Q13485 P38398 BRCA1    HPRD  PubMed  
    Q13485 Q9Y297 BTRC    HPRD  PubMed  
    Q13485 Q9BQ65 C16orf57    HPRD  PubMed  
    Q13485 Q13555 CAMK2G    HPRD  PubMed  
    Q13485 P13987 CD59    HPRD  PubMed  
    Q13485 P17676 CEBPB    HPRD  PubMed  
    Q13485 O14757 CHEK1    HPRD  PubMed  
    Q13485 Q99966 CITED1    HPRD  PubMed  
    Q13485 Q969H4 CNKSR1    HPRD  PubMed  
    Q13485 Q92905 COPS5    HPRD  PubMed  
    Q13485 Q92793 CREBBP    HPRD  PubMed  
    Q13485 Chorionic somatomammotropin hormone 1 CSH1    HPRD  PubMed  
    Q13485 P49711 CTCF    HPRD  PubMed  
    Q13485 P35222 CTNNB1    HPRD  PubMed  
    Q13485 Q9UI36 DACH1    HPRD  PubMed  
    Q13485 Q9NPI6 DCP1A    HPRD  PubMed  
    Q13485 Q8IZD4 DCP1B    HPRD  PubMed  
    Q13485 P56177 DLX1    HPRD  PubMed  
    Q13485 P25686 DNAJB2    HPRD  PubMed  
    Q13485 O14640 DVL1    HPRD  PubMed  
    Q13485 Signaling intermediate in Toll pathway evolutionarily conserved ECSIT    HPRD  PubMed  
    Q13485 P68104 EEF1A1    HPRD  PubMed  
    Q13485 CREBBP/EP300 inhibitor 2 EID2    HPRD  PubMed  
    Q13485 Q9P2K8 EIF2AK4    HPRD  PubMed  
    Q13485 Q09472 EP300    HPRD  PubMed  
    Q13485 Q96RT1 ERBB2IP    HPRD  PubMed  
    Q13485 P03372 ESR1    HPRD  PubMed  
    Q13485 Q92731 ESR2    HPRD  PubMed  
    Q13485 Q01844 EWSR1    HPRD  PubMed  
    Q13485 P23142 FBLN1    HPRD  PubMed  
    Q13485 Q8TB52 FBXO30    HPRD  PubMed  
    Q13485 Q9NWN3 FBXO34    HPRD  PubMed  
    Q13485 P02751 FN1    HPRD  PubMed  
    Q13485 P55315 FOXG1    HPRD  PubMed  
    Q13485 O75593 FOXH1    HPRD  PubMed  
    Q13485 Q12778 FOXO1    HPRD  PubMed  
    Q13485 O43524 FOXO3    HPRD  PubMed  
    Q13485 P98177 FOXO4    HPRD  PubMed  
    Q13485 O95633 FSTL3    HPRD  PubMed  
    Q13485 P10071 GLI3    HPRD  PubMed  
    Q13485 Q14956 GPNMB    HPRD  PubMed  
    Q13485 P51858 HDGF    HPRD  PubMed  
    Q13485 Q00341 HDLBP    HPRD  PubMed  
    Q13485 Q9NP66 HMG20A    HPRD  PubMed  
    Q13485 P41235 HNF4A    HPRD  PubMed  
    Q13485 P31269 HOXA9    HPRD  PubMed  
    Q13485 P31273 HOXC8    HPRD  PubMed  
    Q13485 Q08881 ITK    HPRD  PubMed  
    Q13485 P05412 JUN    HPRD  PubMed  
    Q13485 P17275 JUNB    HPRD  PubMed  
    Q13485 P17535 JUND    HPRD  PubMed  
    Q13485 Q9UJU2 LEF1    HPRD  PubMed  
    Q13485 P28482 MAPK1    HPRD  PubMed  
    Q13485 O15264 MAPK13    HPRD  PubMed  
    Q13485 P61244 MAX    HPRD  PubMed  
    Q13485 Q02078 MEF2A    HPRD  PubMed  
    Q13485 Q6ZN04 MEX3B    HPRD  PubMed  
    Q13485 P15172 MYOD1    HPRD  PubMed  
    Q13485 N-acetyltransferase 8 NAT8    HPRD  PubMed  
    Q13485 Q9HC98 NEK6    HPRD  PubMed  
    Q13485 Q99466 NOTCH4    HPRD  PubMed  
    Q13485 P01111 NRAS    HPRD  PubMed  
    Q13485 Q9H093 NUAK2    HPRD  PubMed  
    Q13485 P35658 NUP214    HPRD  PubMed  
    Q13485 Q16625 OCLN    HPRD  PubMed  
    Q13485 ODZ3 like protein ODZ3    HPRD  PubMed  
    Q13485 Q13153 PAK1    HPRD  PubMed  
    Q13485 Q9BXP8 PAPPA2    HPRD  PubMed  
    Q13485 Q8TEW0 PARD3    HPRD  PubMed  
    Q13485 Q96KB5 PBK    HPRD  PubMed  
    Q13485 O75925 PIAS1    HPRD  PubMed  
    Q13485 O75928 PIAS2    HPRD  PubMed  
    Q13485 Q9Y6X2 PIAS3    HPRD  PubMed  
    Q13485 Q8N2W9 PIAS4    HPRD  PubMed  
    Q13485 O00444 PLK4    HPRD  PubMed  
    Q13485 P31321 PRKAR1B    HPRD  PubMed  
    Q13485 P13861 PRKAR2A    HPRD  PubMed  
    Q13485 O75400 PRPF40A    HPRD  PubMed  
    Q13485 P11465 PSG2    HPRD  PubMed  
    Q13485 Q00887 PSG9    HPRD  PubMed  
    Q13485 O00231 PSMD11    HPRD  PubMed  
    Q13485 P51153 RAB13    HPRD  PubMed  
    Q13485 P57735 RAB25    HPRD  PubMed  
    Q13485 Q8WUD1 RAB2B    HPRD  PubMed  
    Q13485 Q9BZG1 RAB34    HPRD  PubMed  
    Q13485 P57729 RAB38    HPRD  PubMed  
    Q13485 P20337 RAB3B    HPRD  PubMed  
    Q13485 P15153 RAC2    HPRD  PubMed  
    Q13485 P11233 RALA    HPRD  PubMed  
    Q13485 Q96D21 RASD2    HPRD  PubMed  
    Q13485 RAS like family 12 protein RASL12    HPRD  PubMed  
    Q13485 P28749 RBL1    HPRD  PubMed  
    Q13485 P22670 RFX1    HPRD  PubMed  
    Q13485 Ras homolog enriched in brain like 1 RHEBL1    HPRD  PubMed  
    Q13485 O00212 RHOD    HPRD  PubMed  
    Q13485 P84095 RHOG    HPRD  PubMed  
    Q13485 Q9H4E5 RHOJ    HPRD  PubMed  
    Q13485 O43353 RIPK2    HPRD  PubMed  
    Q13485 Q96G75 RMND5B    HPRD  PubMed  
    Q13485 P46779 RPL28    HPRD  PubMed  
    Q13485 P62979 RPS27A    HPRD  PubMed  
    Q13485 P62070 RRAS2    HPRD  PubMed  
    Q13485 Q9UHP6 RTDR1    HPRD  PubMed  
    Q13485 O75995 SASH3    HPRD  PubMed  
    Q13485 P12755 SKI    HPRD  PubMed  
    Q13485 P12757 SKIL    HPRD  PubMed  
    Q13485 Q15797 SMAD1    HPRD  PubMed  
    Q13485 Q15796 SMAD2    HPRD  PubMed  
    Q13485 P84022 SMAD3    HPRD  PubMed  
    Q13485 Q13485 SMAD4    HPRD  PubMed  
    Q13485 Q99717 SMAD5    HPRD  PubMed  
    Q13485 O15198 SMAD9    HPRD  PubMed  
    Q13485 Q8TAD8 SNIP1    HPRD  PubMed  
    Q13485 P08621 SNRNP70    HPRD  PubMed  
    Q13485 P08047 SP1    HPRD  PubMed  
    Q13485 Q01082 SPTBN1    HPRD  PubMed  
    Q13485 Q13501 SQSTM1    HPRD  PubMed  
    Q13485 LKB1 interacting protein 1 STK11IP    HPRD  PubMed  
    Q13485 Q8TDR2 STK35    HPRD  PubMed  
    Q13485 Q9UNE7 STUB1    HPRD  PubMed  
    Q13485 P57738 TCTA    HPRD  PubMed  
    Q13485 Q13569 TDG    HPRD  PubMed  
    Q13485 P19532 TFE3    HPRD  PubMed  
    Q13485 P36897 TGFBR1    HPRD  PubMed  
    Q13485 P37173 TGFBR2    HPRD  PubMed  
    Q13485 TGF beta receptor associated protein 1 TGFBRAP1    HPRD  PubMed  
    Q13485 Q8IXH7 TH1L    HPRD  PubMed  
    Q13485 Q99805 TM9SF2    HPRD  PubMed  
    Q13485 P50616 TOB1    HPRD  PubMed  
    Q13485 Q12931 TRAP1    HPRD  PubMed  
    Q13485 Q96PN8 TSSK3    HPRD  PubMed  
    Q13485 P62987 UBA52    HPRD  PubMed  
    Q13485 Ubiquitin B UBB    HPRD  PubMed  
    Q13485 P63279 UBE2I    HPRD  PubMed  
    Q13485 P68036 UBE2L3    HPRD  PubMed  
    Q13485 Q9H832 UBE2Z    HPRD  PubMed  
    Q13485 Q96PU4 UHRF2    HPRD  PubMed  
    Q13485 Q9HAV4 XPO5    HPRD  PubMed  
    Q13485 Buster1 transposase like protein ZBED5    HPRD  PubMed  
    Q13485 Q9UBW7 ZMYM2    HPRD  PubMed  
    Q13485 OAZ ZNF423    HPRD  PubMed  
    Q13485 Zinc finger protein 521 ZNF521    HPRD  PubMed  
    Q13485 P17098 ZNF8    HPRD  PubMed  
    BioGRID:110264 BioGRID:106710 AKT1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110264 BioGRID:106862 AR    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110264 BioGRID:107776 ATF2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:110264 BioGRID:214914 Ap2b1    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:198142 Apbb2    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:218262 Arfrp1    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:229444 Arhgef11    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:207566 Arhgef7    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:217808 Arl5b    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:114457 BTRC    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:110264 BioGRID:107268 CAMK2G    BioGRID  PubMed Biochemical Activity 
    BioGRID:110264 BioGRID:107479 CEBPA    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110264 BioGRID:107480 CEBPB    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110264 BioGRID:107481 CEBPD    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110264 BioGRID:110572 CITED1    BioGRID  PubMed Two-hybrid 
    BioGRID:110264 BioGRID:116183 COPS5    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:110264 BioGRID:107880 CTNNB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110264 BioGRID:198694 Chek1    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:107972 DACH1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110264 BioGRID:107985 DAXX    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:110264 BioGRID:120914 DCP1A    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:110264 BioGRID:108089 DLX1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110264 BioGRID:108188 DVL1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110264 BioGRID:127852 EID2    BioGRID  PubMed Affinity Capture-Western 
    NP_001420.2 EP300    BIND  PubMed p300 interacts with Smad4 fragment. p300 interacting with full-length Smad4 could not be demonstrated in vitro. This interaction was modeled on a demonstrated interaction between p300 from an unspecified species and human Smad4 fragment. 
    BioGRID:110264 BioGRID:108347 EP300    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110264 BioGRID:120997 ERBB2IP    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110264 BioGRID:108431 EWSR1    BioGRID  PubMed Two-hybrid 
    BioGRID:110264 BioGRID:205123 Eif2ak4    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:114442 FOXH1    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:110264 BioGRID:108597 FOXO1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110264 BioGRID:108598 FOXO3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110264 BioGRID:110449 FOXO4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110264 BioGRID:108894 GATA2    BioGRID  PubMed Two-hybrid 
    BioGRID:110264 BioGRID:109315 HDAC1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110264 BioGRID:109414 HNF4A    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110264 BioGRID:109445 HOXA9    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110264 BioGRID:109464 HOXC8    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110264 BioGRID:200265 Hdgf    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:212191 Ilkap    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:200840 Itk    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:109929 JUNB    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110264 BioGRID:116752 KDM6B    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110264 BioGRID:110035 KPNB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110264 BioGRID:119354 LEF1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110264 BioGRID:110319 MAX    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110264 BioGRID:110359 MDM4    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110264 BioGRID:108423 MECOM    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110264 BioGRID:204951 Map2k3    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:110836 NF1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110264 BioGRID:107864 NKX2-5    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:110264 BioGRID:107055 NKX3-2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110264 BioGRID:113717 NUP214    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110264 BioGRID:208542 Nek6    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:201843 Nras    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:216519 Nuak2    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:201894 Ocln    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:125592 PARD3B    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110264 BioGRID:115673 PIAS3    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110264 BioGRID:119624 PIAS4    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:110264 BioGRID:206338 Pbk    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:203545 Plk4    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:111868 RBL1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110264 BioGRID:212806 Rab13    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:218074 Rab2b    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:202576 Rab34    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:215371 Rab38    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:213749 Rab3b    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:202557 Rac2    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:217250 Rasd2    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:198198 Rhod    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:207846 Rhog    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:219817 Rhoj    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:228697 Ripk2    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:208028 Rnf138    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:208150 Rnf14    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:219309 Rps27a    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:211811 Rras2    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:214571 Rtdr1    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:112388 SKI    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Co-crystal Structure; Reconstituted Complex 
    BioGRID:110264 BioGRID:112389 SKIL    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:110264 BioGRID:112393 SKP2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110264 BioGRID:110261 SMAD1    BioGRID  PubMed Affinity Capture-Western; Co-fractionation; Two-hybrid 
    BioGRID:110264 BioGRID:110262 SMAD2    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Co-fractionation; Reconstituted Complex; Two-hybrid 
    BioGRID:110264 BioGRID:110263 SMAD3    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110264 BioGRID:110265 SMAD5    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110264 BioGRID:110266 SMAD6    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110264 BioGRID:110267 SMAD7    BioGRID  PubMed Affinity Capture-Western; Phenotypic Suppression; Reconstituted Complex 
    BioGRID:110264 BioGRID:110268 SMAD9    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:110264 BioGRID:121411 SMURF1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110264 BioGRID:122864 SNIP1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110264 BioGRID:116597 SNW1    BioGRID  PubMed Phenotypic Enhancement; Two-hybrid 
    BioGRID:110264 BioGRID:112550 SP1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:110264 BioGRID:125352 STK11IP    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110264 BioGRID:115563 STUB1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110264 BioGRID:113188 SUMO1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110264 BioGRID:201274 Smad1    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:201275 Smad2    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:201276 Smad3    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:201982 Sqstm1    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:203521 Stat1    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:212113 Stk35    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:112888 TFE3    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110264 BioGRID:112904 TGFBR1    BioGRID  PubMed Co-fractionation 
    BioGRID:110264 BioGRID:114792 TGFBRAP1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110264 BioGRID:115443 TOB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110264 BioGRID:119625 TRIM33    BioGRID  PubMed Biochemical Activity 
    BioGRID:110264 BioGRID:211764 Trim35    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:208450 Tssk3    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:110264 BioGRID:113177 UBE2I    BioGRID  PubMed Two-hybrid 
    BioGRID:110264 BioGRID:115283 USP15    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110264 BioGRID:113867 USP9X    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110264 BioGRID:204402 Ubb    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:200956 Uhmk1    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:110264 BioGRID:113360 YY1    BioGRID  PubMed Affinity Capture-Western; Co-localization; Reconstituted Complex 
    BioGRID:110264 BioGRID:116718 ZNF423    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110264 BioGRID:232563 Zfp128    BioGRID  PubMed Reconstituted Complex 
    Help top of page

    General gene information

    Markers

    Genotypes

    Potential readthrough

    Included gene: ELAC1

    Homology

    Pathways from BioSystems

    • ALK1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
      ALK1 signaling events, organism-specific biosystem
      ALK1 signaling events
    • ALK2 signaling events, organism-specific biosystem (from Pathway Interaction Database)
      ALK2 signaling events, organism-specific biosystem
      ALK2 signaling events
    • Adherens junction, organism-specific biosystem (from KEGG)
      Adherens junction, organism-specific biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
    • Adherens junction, conserved biosystem (from KEGG)
      Adherens junction, conserved biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
    • Androgen Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Androgen Receptor Signaling Pathway, organism-specific biosystemThe androgen receptor is a member of the nuclear receptor family of ligand activated transcription factors. These receptors bind to steroid hormones, thyroid hormone, retinoids and vitamin D among ot...
    • BMP Signalling Pathway, organism-specific biosystem (from BIOCYC)
      BMP Signalling Pathway, organism-specific biosystemThe TGF-beta/BMP (bone morphogenetic protein) pathway incorporates several signalling pathways that share most, but not all, components of a central signal transduction engine. The general signalling...
    • BMP receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
      BMP receptor signaling, organism-specific biosystem
      BMP receptor signaling
    • Cell cycle, organism-specific biosystem (from WikiPathways)
      Cell cycle, organism-specific biosystem(From http://en.wikipedia.org/wiki/Cell_cycle) The cell cycle is the series of events that takes place in a cell leading to its division and duplication (replication). Regulation of the cell cycle in...
    • Cell cycle, organism-specific biosystem (from KEGG)
      Cell cycle, organism-specific biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
    • Cell cycle, conserved biosystem (from KEGG)
      Cell cycle, conserved biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
    • Chronic myeloid leukemia, organism-specific biosystem (from KEGG)
      Chronic myeloid leukemia, organism-specific biosystemChronic myelogenous leukemia (CML) originates in a pluripotent hematopoetic stem cell of the bone marrow and is characterized by greatly increased numbers of granulocytes in the blood. Myeloid and ot...
    • Chronic myeloid leukemia, conserved biosystem (from KEGG)
      Chronic myeloid leukemia, conserved biosystemChronic myelogenous leukemia (CML) originates in a pluripotent hematopoetic stem cell of the bone marrow and is characterized by greatly increased numbers of granulocytes in the blood. Myeloid and ot...
    • Colorectal cancer, organism-specific biosystem (from KEGG)
      Colorectal cancer, organism-specific biosystemColorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in ...
    • Colorectal cancer, conserved biosystem (from KEGG)
      Colorectal cancer, conserved biosystemColorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in ...
    • Delta-Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Delta-Notch Signaling Pathway, organism-specific biosystemThere are 4 Notch receptors in humans (Notch 1-4) that bind to a family of 5 ligands (Jagged 1 and 2 and Delta-like 1-3). The Notch receptors are expressed on the cell surface as heterodimeric protei...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • HIF-1-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      HIF-1-alpha transcription factor network, organism-specific biosystem
      HIF-1-alpha transcription factor network
    • HTLV-I infection, organism-specific biosystem (from KEGG)
      HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • HTLV-I infection, conserved biosystem (from KEGG)
      HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • Heart Development, organism-specific biosystem (from WikiPathways)
      Heart Development, organism-specific biosystemThis pathway has been largely adapted from an article by Deepak Srivastava, Cell. 2006 Sep 22;126(6):1037-48. In this pathway are known transcription factors, miRNAs and regulatory proteins that impa...
    • Id Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Id Signaling Pathway, organism-specific biosystemInhibitor of DNA binding (ID) proteins are members of the helix-loop-helix (HLH) family of proteins which lack a DNA binding domain themselves but bind to other family members inhibiting their DNA bi...
    • LKB1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
      LKB1 signaling events, organism-specific biosystem
      LKB1 signaling events
    • Pancreatic cancer, organism-specific biosystem (from KEGG)
      Pancreatic cancer, organism-specific biosystemInfiltrating ductal adenocarcinoma is the most common malignancy of the pancreas. When most investigators use the term 'pancreatic cancer' they are referring to pancreatic ductal adenocarcinoma (PDA)...
    • Pancreatic cancer, conserved biosystem (from KEGG)
      Pancreatic cancer, conserved biosystemInfiltrating ductal adenocarcinoma is the most common malignancy of the pancreas. When most investigators use the term 'pancreatic cancer' they are referring to pancreatic ductal adenocarcinoma (PDA)...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Regulation of cytoplasmic and nuclear SMAD2/3 signaling, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of cytoplasmic and nuclear SMAD2/3 signaling, organism-specific biosystem
      Regulation of cytoplasmic and nuclear SMAD2/3 signaling
    • Regulation of nuclear SMAD2/3 signaling, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of nuclear SMAD2/3 signaling, organism-specific biosystem
      Regulation of nuclear SMAD2/3 signaling
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by BMP, organism-specific biosystem (from REACTOME)
      Signaling by BMP, organism-specific biosystemThe TGF-beta/BMP (bone morphogenetic protein) pathway incorporates several signalling pathways that share most, but not all, components of a central signal transduction engine. The general signalling...
    • Signaling by NODAL, organism-specific biosystem (from REACTOME)
      Signaling by NODAL, organism-specific biosystemSignaling by NODAL is essential for patterning of the axes of the embryo and formation of mesoderm and endoderm (reviewed in Schier 2009, Shen 2007). The NODAL proprotein is secreted and cleaved extr...
    • Signaling by TGF beta, organism-specific biosystem (from REACTOME)
      Signaling by TGF beta, organism-specific biosystemThe TGF-beta/BMP pathway incorporates several signalling pathways that share most, but not all, components of a central signal transduction engine. The general signalling scheme is rather simple: upo...
    • TGF Beta Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TGF Beta Signaling Pathway, organism-specific biosystemThe Transforming growth factor beta (TGFβ) signaling pathway is involved in many cellular processes in both the adult organism and the developing embryo including cell growth, cell differentiat...
    • TGF-beta Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TGF-beta Receptor Signaling Pathway, organism-specific biosystem"The TGF beta receptors TGFBR1 and TGFBR2 belong to a subfamily of membrane-bound serine/threonine kinases which are designated as Type I or II based on their structural and functional properties. Th...
    • TGF-beta receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
      TGF-beta receptor signaling, organism-specific biosystem
      TGF-beta receptor signaling
    • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
      TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • TGF-beta signaling pathway, conserved biosystem (from KEGG)
      TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • Validated targets of C-MYC transcriptional activation, organism-specific biosystem (from Pathway Interaction Database)
      Validated targets of C-MYC transcriptional activation, organism-specific biosystem
      Validated targets of C-MYC transcriptional activation
    • Validated targets of C-MYC transcriptional repression, organism-specific biosystem (from Pathway Interaction Database)
      Validated targets of C-MYC transcriptional repression, organism-specific biosystem
      Validated targets of C-MYC transcriptional repression
    • Wnt Signaling Pathway NetPath, organism-specific biosystem (from WikiPathways)
      Wnt Signaling Pathway NetPath, organism-specific biosystemWnt family of proteins are a large family of cysteine-rich secreted glycoproteins that regulate cell-cell interactions. They bind to members of the Frizzled family of 7 transmembrane receptors. Bindi...
    • Wnt signaling pathway, organism-specific biosystem (from KEGG)
      Wnt signaling pathway, organism-specific biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
    • Wnt signaling pathway, conserved biosystem (from KEGG)
      Wnt signaling pathway, conserved biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    I-SMAD binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    R-SMAD binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    SMAD binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    chromatin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    collagen binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    core promoter proximal region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    contributes_to protein binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    contributes_to sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    contributes_to sequence-specific DNA binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    sequence-specific DNA binding transcription factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    transforming growth factor beta receptor, common-partner cytoplasmic mediator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    BMP signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    SMAD protein complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    SMAD protein signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    anterior/posterior pattern specification IEA
    Inferred from Electronic Annotation
    more info
    		  
    branching involved in ureteric bud morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    developmental growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    endoderm development IEA
    Inferred from Electronic Annotation
    more info
    		  
    formation of anatomical boundary IEA
    Inferred from Electronic Annotation
    more info
    		  
    gastrulation with mouth forming second IEA
    Inferred from Electronic Annotation
    more info
    		  
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    kidney development IEA
    Inferred from Electronic Annotation
    more info
    		  
    mesoderm development IEA
    Inferred from Electronic Annotation
    more info
    		  
    metanephric mesenchyme morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    negative regulation of cell death IEA
    Inferred from Electronic Annotation
    more info
    		  
    negative regulation of cell growth IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    negative regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    negative regulation of protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		  
    negative regulation of transcription, DNA-dependent IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nephrogenic mesenchyme morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    neural crest cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    neuron fate commitment IEA
    Inferred from Electronic Annotation
    more info
    		  
    palate development IEA
    Inferred from Electronic Annotation
    more info
    		  
    palate development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    positive regulation of SMAD protein import into nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of SMAD protein import into nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    positive regulation of epithelial to mesenchymal transition IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    positive regulation of pathway-restricted SMAD protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of pathway-restricted SMAD protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of transcription, DNA-dependent IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    positive regulation of transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    regulation of binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of hair follicle development IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    regulation of transforming growth factor beta2 production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    response to hypoxia IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    response to transforming growth factor beta stimulus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    sebaceous gland development IEA
    Inferred from Electronic Annotation
    more info
    		  
    somite rostral/caudal axis specification IEA
    Inferred from Electronic Annotation
    more info
    		  
    tissue morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    transforming growth factor beta receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    transforming growth factor beta receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    SMAD protein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    activin responsive factor complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    intracellular IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    transcription factor complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    transcription factor complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    transcription factor complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Help top of page

    General protein information

    Preferred Names
    mothers against decapentaplegic homolog 4
    Names
    mothers against decapentaplegic homolog 4
    MAD homolog 4
    SMAD, mothers against DPP homolog 4
    deleted in pancreatic carcinoma locus 4
    deletion target in pancreatic carcinoma 4
    mothers against decapentaplegic, Drosophila, homolog of, 4
    Help top of page

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013013.2 RefSeqGene

      Range
      67174..122003
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005359.5 → NP_005350.1  mothers against decapentaplegic homolog 4

      Status: REVIEWED

      Source sequence(s)
      AC091551, AU120224, BC002379, BM701399
      Consensus CDS
      CCDS11950.1
      UniProtKB/Swiss-Prot
      Q13485
      Related
      ENSP00000341551, ENST00000342988
      Conserved Domains (2) summary
      cd10492
      Location:14 – 138
      Blast Score: 661
      MH1_SMAD_4; N-terminal Mad Homology 1 (MH1) domain in SMAD4
      cd10498
      Location:320 – 541
      Blast Score: 1141
      MH2_SMAD_4; C-terminal Mad Homology 2 (MH2) domain in SMAD4

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000018.9 Reference GRCh37.p5 Primary Assembly

      Range
      48556583..48611412
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000150.1 Alternate HuRef

      Range
      45411927..45466923
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Help top of page

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AB043547.1 BAB40977.1
    genomic AC091551.14 (78326..132700) None
    genomic AF045447.1 AAC03051.1
    genomic CH471096.1 EAW62985.1
      EAW62986.1
      EAW62987.1
    mRNA AK290770.1 BAF83459.1
    mRNA AU120224.1 None
    mRNA BC002379.2 AAH02379.1
    mRNA BM701399.1 None
    mRNA BX647129.1 None
    mRNA U44378.1 AAA91041.1
    other-genetic DQ891840.2 ABM82766.1
    other-genetic DQ895028.2 ABM85954.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13485.1 GenPept UniProtKB/Swiss-Prot:Q13485
    Q9BYG6 GenPept UniProtKB/TrEMBL:Q9BYG6
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