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SMAD3 SMAD family member 3 [ Homo sapiens (human) ]

Gene ID: 4088, updated on 21-Nov-2014
Official Symbol
SMAD3provided by HGNC
Official Full Name
SMAD family member 3provided by HGNC
Primary source
HGNC:HGNC:6769
See related
Ensembl:ENSG00000166949; HPRD:04380; HPRD:08533; MIM:603109; Vega:OTTHUMG00000133230
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
LDS3; LDS1C; MADH3; JV15-2; HSPC193; HsT17436
Summary
The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions as a transcriptional modulator activated by transforming growth factor-beta and is thought to play a role in the regulation of carcinogenesis. [provided by RefSeq, Apr 2009]
See SMAD3 in Epigenomics, MapViewer
Location:
15q22.33
Exon count:
13
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 15 NC_000015.10 (67065857..67195195)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (67358036..67487533)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723481 Neighboring gene uncharacterized LOC102723493 Neighboring gene alpha- and gamma-adaptin binding protein Neighboring gene ribosomal protein S24 pseudogene 16 Neighboring gene IQ motif containing H Neighboring gene IQCH antisense RNA 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in SMAD3 that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2013-03-14)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2013-03-14)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
NHGRI GWA Catalog
A genome-wide gene-environment interaction analysis for tobacco smoke and lung cancer susceptibility.
NHGRI GWA Catalog
A large-scale, consortium-based genomewide association study of asthma.
NHGRI GWA Catalog
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
NHGRI GWA Catalog
Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.
NHGRI GWA Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
NHGRI GWA Catalog
Genomewide association analysis of coronary artery disease.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat-treated pulmonary arterial smooth muscle cells downregulate levels of phosphorylated SMAD2/3 proteins and SMAD2/3-SMAD4 protein complex, which are repressed by cocaine exposure PubMed
tat HIV-1 Tat enhances binding of SMAD2, -3 and -4 and their binding partner Fast1 to the JCV DNA control region (CR) to stimulate JCV gene transcription in living cells PubMed
tat The C-terminal MH2 domain of Smad3 can decrease the levels of HIV-1 Tat-induced activation of MCP-1 in astrocytic cells PubMed
tat Smad-3 stimulates HIV-1 Tat mediated transcription from the HIV-1 LTR promoter and the MCP promoter through a direct association with Tat amino acids 1-40 PubMed
Vpr vpr HIV-1 Vpr impairs NK cell function through cytokine dysregulation, including diminshed expression of CD107a, reduced production of IFN-gamma, differential regulation of IL-12 and TGF-beta, and activation of the Smad3 signalling pathway PubMed

Go to the HIV-1, Human Interaction Database

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  • Adherens junction, conserved biosystem (from KEGG)
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    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...
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    Chagas disease (American trypanosomiasis), organism-specific biosystemTrypanosoma cruzi is an intracellular protozoan parasite that causes Chagas disease. The parasite life cycle involves hematophagous reduviid bugs as vectors. Once parasites enter the host body, they ...
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    Downregulation of SMAD2/3:SMAD4 transcriptional activity, organism-specific biosystemTranscriptional activity of SMAD2/3:SMAD4 heterotrimer can be inhibited by formation of a complex with SKI or SKIL (SNO), where SKI or SKIL recruit NCOR and possibly other transcriptional repressors ...
  • Downregulation of TGF-beta receptor signaling, organism-specific biosystem (from REACTOME)
    Downregulation of TGF-beta receptor signaling, organism-specific biosystemTGF-beta receptor signaling is downregulated by proteasome and lysosome-mediated degradation of ubiquitinated TGFBR1, SMAD2 and SMAD3, as well as by dephosphorylation of TGFBR1, SMAD2 and SMAD3. In t...
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  • HIF-1-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    HIF-1-alpha transcription factor network, organism-specific biosystem
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  • Hippo signaling pathway, conserved biosystem (from KEGG)
    Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • 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...
  • Inflammatory bowel disease (IBD), organism-specific biosystem (from KEGG)
    Inflammatory bowel disease (IBD), organism-specific biosystemInflammatory bowel disease (IBD), which includes Crohn disease (CD) and ulcerative colitis (UC), is characterized by chronic inflammation of the gastrointestinal tract due to environmental and geneti...
  • Inflammatory bowel disease (IBD), conserved biosystem (from KEGG)
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  • Integrated Cancer pathway, organism-specific biosystem (from WikiPathways)
    Integrated Cancer pathway, organism-specific biosystem
    Integrated Cancer pathway
  • Loss of Function of SMAD2/3 in Cancer, organism-specific biosystem (from REACTOME)
    Loss of Function of SMAD2/3 in Cancer, organism-specific biosystemLoss-of-function of SMAD2 and SMAD3 in cancer occurs less frequently than the loss of SMAD4 function and was studied in most detail in colorectal cancer (Fleming et al. 2013). Similarly to SMAD4, cod...
  • Loss of Function of SMAD4 in Cancer, organism-specific biosystem (from REACTOME)
    Loss of Function of SMAD4 in Cancer, organism-specific biosystemSMAD4 was identified as a gene homozygously deleted in ~30% of pancreatic cancers and was named DPC4 (DPC stands for deleted in pancreatic cancer). SMAD4 maps to the chromosomal band 18q21.1, and abo...
  • Loss of Function of TGFBR1 in Cancer, organism-specific biosystem (from REACTOME)
    Loss of Function of TGFBR1 in Cancer, organism-specific biosystemTGF-beta receptor 1 (TGFBR1) loss-of-function is a less frequent mechanism for inactivation of TGF-beta signaling in cancer compared to SMAD4 and TGFBR2 inactivation. Genomic deletion of TGFBR1 locus...
  • Loss of Function of TGFBR2 in Cancer, organism-specific biosystem (from REACTOME)
    Loss of Function of TGFBR2 in Cancer, organism-specific biosystemLoss-of-function of transforming growth factor-beta receptor II (TGFBR2) is most prevalent in colorectal cancer. Over 60% of colorectal cancers with microsatellite instability (MSI) harbor inactivati...
  • Ovarian Infertility Genes, organism-specific biosystem (from WikiPathways)
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  • 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
  • Prostate Cancer, organism-specific biosystem (from WikiPathways)
    Prostate Cancer, organism-specific biosystem
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  • Regulation of Telomerase, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of Telomerase, organism-specific biosystem
    Regulation of Telomerase
  • 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
  • SMAD2/3 MH2 Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
    SMAD2/3 MH2 Domain Mutants in Cancer, organism-specific biosystemMutations in the MH2 domain of SMAD2 and SMAD3 affect their ability to form heterotrimers with SMAD4, thereby impairing TGF-beta signaling (Fleming et al. 2013).The SMAD2 and SMAD3 MH2 domain residue...
  • SMAD2/3 Phosphorylation Motif Mutants in Cancer, organism-specific biosystem (from REACTOME)
    SMAD2/3 Phosphorylation Motif Mutants in Cancer, organism-specific biosystemThe conserved phosphorylation motif Ser-Ser-X-Ser at the C-terminus of SMAD2 and SMAD3 is subject to disruptive mutations in cancer. The last two serine residues in this conserved motif, namely Ser46...
  • SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription, organism-specific biosystem (from REACTOME)
    SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription, organism-specific biosystemAfter phosphorylated SMAD2 and/or SMAD3 form a heterotrimer with SMAD4, SMAD2/3:SMAD4 complex translocates to the nucleus (Xu et al. 2000, Kurisaki et al. 2001, Xiao et al. 2003). In the nucleus, lin...
  • SMAD4 MH2 Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
    SMAD4 MH2 Domain Mutants in Cancer, organism-specific biosystemThe MH2 domain of SMAD4 is the most frequently mutated SMAD4 region in cancer. MH2 domain mutations result in the loss of function of SMAD4 by abrogating the formation of transcriptionally active het...
  • Senescence and Autophagy, organism-specific biosystem (from WikiPathways)
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  • Signaling by NODAL, organism-specific biosystem (from REACTOME)
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  • Signaling by TGF-beta Receptor Complex in Cancer, organism-specific biosystem (from REACTOME)
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  • Signaling pathways regulating pluripotency of stem cells, organism-specific biosystem (from KEGG)
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  • Signaling pathways regulating pluripotency of stem cells, conserved biosystem (from KEGG)
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  • TGF Beta Signaling Pathway, organism-specific biosystem (from WikiPathways)
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  • TGF-beta Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
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  • TGF-beta receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
    TGF-beta receptor signaling, organism-specific biosystem
    TGF-beta receptor signaling
  • TGF-beta receptor signaling activates SMADs, organism-specific biosystem (from REACTOME)
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  • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
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  • TGF-beta signaling pathway, conserved biosystem (from KEGG)
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  • TGFBR1 KD Mutants in Cancer, organism-specific biosystem (from REACTOME)
    TGFBR1 KD Mutants in Cancer, organism-specific biosystemMutations in the kinase domain (KD) of TGF-beta receptor 1 (TGFBR1) have been found in Ferguson-Smith tumor i.e. multiple self-healing squamous epithelioma - MSSE (Goudie et al. 2011), breast cancer ...
  • TGFBR1 LBD Mutants in Cancer, organism-specific biosystem (from REACTOME)
    TGFBR1 LBD Mutants in Cancer, organism-specific biosystemMutations in the ligand-binding domain (LBD) of TGF-beta receptor 1 (TGFBR1) have been reported as germline mutations in Ferguson-Smith tumor (multiple self-healing squamous epithelioma - MSSE), an a...
  • TGFBR2 Kinase Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
    TGFBR2 Kinase Domain Mutants in Cancer, organism-specific biosystemMissense mutations in the kinase domain (KD) of TGF-beta receptor II (TGFBR2) are found in ~20% of microsatellite stable (MSS) colon cancers and make affected tumors resistant to TGF-beta (TGFB1)-med...
  • TGFBR2 MSI Frameshift Mutants in Cancer, organism-specific biosystem (from REACTOME)
    TGFBR2 MSI Frameshift Mutants in Cancer, organism-specific biosystemThe short adenine repeat in the coding sequence of TGF-beta receptor II (TGFBR2) gene is frequently targeted by loss-of-function frameshift mutations in colon cancers with microsatellite instability ...
  • Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer, organism-specific biosystem (from REACTOME)
    Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer, organism-specific biosystemIn the nucleus, SMAD2/3:SMAD4 heterotrimer complex acts as a transcriptional regulator. The activity of SMAD2/3 complex is regulated both positively and negatively by association with other transcrip...
  • 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
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC60396, DKFZp586N0721, DKFZp686J10186

Gene Ontology Provided by GOA

Function Evidence Code Pubs
R-SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
RNA polymerase II activating transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
bHLH transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
beta-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
chromatin DNA binding IEA
Inferred from Electronic Annotation
more info
 
co-SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 
double-stranded DNA binding IEA
Inferred from Electronic Annotation
more info
 
enhancer binding IC
Inferred by Curator
more info
PubMed 
phosphatase 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 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
sequence-specific DNA binding transcription factor activity 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 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription regulatory region DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transforming growth factor beta receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin binding IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
SMAD protein complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
T cell activation IEA
Inferred from Electronic Annotation
more info
 
activation of cysteine-type endopeptidase activity involved in apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
activin receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell cycle arrest IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell-cell junction organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
developmental growth IEA
Inferred from Electronic Annotation
more info
 
embryonic cranial skeleton morphogenesis IEA
Inferred from Electronic Annotation
more info
 
embryonic foregut morphogenesis IEA
Inferred from Electronic Annotation
more info
 
embryonic pattern specification IEA
Inferred from Electronic Annotation
more info
 
endoderm development IEA
Inferred from Electronic Annotation
more info
 
evasion or tolerance of host defenses by virus IDA
Inferred from Direct Assay
more info
PubMed 
extrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
gene expression TAS
Traceable Author Statement
more info
 
heart looping IEA
Inferred from Electronic Annotation
more info
 
immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
immune system development IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
intracellular signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
lens fiber cell differentiation IEA
Inferred from Electronic Annotation
more info
 
liver development IEA
Inferred from Electronic Annotation
more info
 
mesoderm formation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell growth IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of inflammatory response IEA
Inferred from Electronic Annotation
more info
 
negative regulation of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of osteoblast proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
negative regulation of transforming growth factor beta receptor signaling pathway TAS
Traceable Author Statement
more info
 
negative regulation of wound healing IEA
Inferred from Electronic Annotation
more info
 
nodal signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
osteoblast development IEA
Inferred from Electronic Annotation
more info
 
paraxial mesoderm morphogenesis IEA
Inferred from Electronic Annotation
more info
 
pericardium development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of alkaline phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of bone mineralization IEA
Inferred from Electronic Annotation
more info
 
positive regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of catenin import into nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell migration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of chondrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of epithelial to mesenchymal transition IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of epithelial to mesenchymal transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of focal adhesion assembly IEA
Inferred from Electronic Annotation
more info
 
positive regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of gene expression involved in extracellular matrix organization IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of interleukin-1 beta production IEA
Inferred from Electronic Annotation
more info
 
positive regulation of positive chemotaxis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of stress fiber assembly IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription factor import into nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transforming growth factor beta3 production IEA
Inferred from Electronic Annotation
more info
 
primary miRNA processing TAS
Traceable Author Statement
more info
PubMed 
protein stabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of binding IEA
Inferred from Electronic Annotation
more info
 
regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of immune response IEA
Inferred from Electronic Annotation
more info
 
regulation of striated muscle tissue 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 
signal transduction involved in regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
somitogenesis IEA
Inferred from Electronic Annotation
more info
 
thyroid gland development IEA
Inferred from Electronic Annotation
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
transcription, DNA-templated TAS
Traceable Author Statement
more info
 
transdifferentiation 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 TAS
Traceable Author Statement
more info
 
transport IDA
Inferred from Direct Assay
more info
PubMed 
ureteric bud development IEA
Inferred from Electronic Annotation
more info
 
wound healing TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
SMAD protein complex IDA
Inferred from Direct Assay
more info
PubMed 
SMAD2-SMAD3 protein complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nuclear inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
receptor complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription factor complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
mothers against decapentaplegic homolog 3
Names
mothers against decapentaplegic homolog 3
mad3
hMAD-3
hSMAD3
MAD homolog 3
mad homolog JV15-2
mad protein homolog
mothers against DPP homolog 3
SMA- and MAD-related protein 3
SMAD, mothers against DPP homolog 3
MAD, mothers against decapentaplegic homolog 3

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_011990.1 

    Range
    5001..134336
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145102.1NP_001138574.1  mothers against decapentaplegic homolog 3 isoform 2

    See proteins identical to NP_001138574.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC012568, AK316017, DA453132, U76622
    Consensus CDS
    CCDS53950.1
    UniProtKB/Swiss-Prot
    P84022
    Conserved Domains (2) summary
    cd10985
    Location:119309
    MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3
    cl00055
    Location:127
    MH1; N-terminal Mad Homology 1 (MH1) domain
  2. NM_001145103.1NP_001138575.1  mothers against decapentaplegic homolog 3 isoform 3

    See proteins identical to NP_001138575.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC012568, AK298139, U76622
    Consensus CDS
    CCDS45288.1
    UniProtKB/Swiss-Prot
    P84022
    Conserved Domains (2) summary
    cd10985
    Location:180370
    MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3
    cl00055
    Location:2588
    MH1; N-terminal Mad Homology 1 (MH1) domain
  3. NM_001145104.1NP_001138576.1  mothers against decapentaplegic homolog 3 isoform 4

    See proteins identical to NP_001138576.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC012568, DA755047, DA977882
    Consensus CDS
    CCDS53951.1
    UniProtKB/Swiss-Prot
    P84022
    Conserved Domains (1) summary
    cd10985
    Location:29219
    MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3
  4. NM_005902.3NP_005893.1  mothers against decapentaplegic homolog 3 isoform 1

    See proteins identical to NP_005893.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AA493306, AF151027, AI991957, AL110265, BC050743, BE905995, BF058230, BG251847, BM551682, BM722372, BQ917888, BX506233, U76622
    Consensus CDS
    CCDS10222.1
    UniProtKB/TrEMBL
    A0A024R5Z3
    UniProtKB/Swiss-Prot
    P84022
    UniProtKB/TrEMBL
    Q9P0T0
    Related
    ENSP00000332973, OTTHUMP00000164305, ENST00000327367, OTTHUMT00000256967
    Conserved Domains (2) summary
    cd10491
    Location:8132
    MH1_SMAD_2_3; N-terminal Mad Homology 1 (MH1) domain in SMAD2 and SMAD3
    cd10985
    Location:224414
    MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Alternate HuRef

Genomic

  1. AC_000147.1 

    Range
    44193465..44321904
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000015.10 

    Range
    67065857..67195195
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720506.1XP_006720569.1  

    Conserved Domains (2) summary
    cd10985
    Location:172362
    MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3
    cl00055
    Location:1880
    MH1; N-terminal Mad Homology 1 (MH1) domain

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 

    Range
    67476260..67605488
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)