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Smad2 SMAD family member 2 [ Mus musculus (house mouse) ]

Gene ID: 17126, updated on 17-Jan-2023

Summary

Official Symbol
Smad2provided by MGI
Official Full Name
SMAD family member 2provided by MGI
Primary source
MGI:MGI:108051
See related
Ensembl:ENSMUSG00000024563 AllianceGenome:MGI:108051
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Madh2; Madr2; mMad2; Smad-2; 7120426M23Rik
Summary
Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; identical protein binding activity; and tau protein binding activity. Involved in positive regulation of epithelial to mesenchymal transition and secondary palate development. Acts upstream of or within several processes, including animal organ development; embryonic morphogenesis; and transmembrane receptor protein serine/threonine kinase signaling pathway. Located in cytoplasm and nucleus. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and sensory organ. Human ortholog(s) of this gene implicated in Lynch syndrome; cervical cancer; and ovarian cancer. Orthologous to human SMAD2 (SMAD family member 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in whole brain E14.5 (RPKM 7.1), bladder adult (RPKM 6.8) and 28 other tissues See more
Orthologs
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Genomic context

See Smad2 in Genome Data Viewer
Location:
18 E3; 18 51.42 cM
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (76369898..76444819)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (76241090..76311748)

Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 52360 Neighboring gene predicted gene 9028 Neighboring gene predicted gene, 41778 Neighboring gene predicted gene, 41779 Neighboring gene predicted gene, 54026 Neighboring gene predicted gene, 31875

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables DNA-binding transcription activator activity, RNA polymerase II-specific IPI
Inferred from Physical Interaction
more info
PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific ISO
Inferred from Sequence Orthology
more info
 
contributes_to DNA-binding transcription factor activity ISO
Inferred from Sequence Orthology
more info
 
enables DNA-binding transcription factor activity ISO
Inferred from Sequence Orthology
more info
 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables DNA-binding transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables DNA-binding transcription factor binding ISO
Inferred from Sequence Orthology
more info
 
enables I-SMAD binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables I-SMAD binding ISO
Inferred from Sequence Orthology
more info
 
enables R-SMAD binding ISO
Inferred from Sequence Orthology
more info
 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables SMAD binding ISO
Inferred from Sequence Orthology
more info
 
enables chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables co-SMAD binding ISO
Inferred from Sequence Orthology
more info
 
enables disordered domain specific binding ISO
Inferred from Sequence Orthology
more info
 
enables double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables phosphatase binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables tau protein binding IDA
Inferred from Direct Assay
more info
PubMed 
enables transforming growth factor beta receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables type I transforming growth factor beta receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables ubiquitin protein ligase binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in SMAD protein complex assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in SMAD protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within SMAD protein signal transduction IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in activin receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in activin receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
 
involved_in adrenal gland development ISO
Inferred from Sequence Orthology
more info
 
involved_in anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within anterior/posterior pattern specification IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in aortic valve morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within cell fate commitment IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within common-partner SMAD protein phosphorylation ISO
Inferred from Sequence Orthology
more info
PubMed 
acts_upstream_of_or_within developmental growth IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within embryonic cranial skeleton morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within embryonic foregut morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within embryonic pattern specification IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in endocardial cushion morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within endoderm development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within endoderm formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within gastrulation IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within heart development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within in utero embryonic development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within in utero embryonic development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within insulin secretion IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within intracellular signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within lung development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within mesoderm formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of cell population proliferation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within negative regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in nodal signaling pathway ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within organ growth IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within pancreas development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within paraxial mesoderm morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within pattern specification process IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within pericardium development IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of BMP signaling pathway ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of DNA-templated transcription IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of epithelial to mesenchymal transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within post-embryonic development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in pulmonary valve morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within regulation of binding IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of transforming growth factor beta receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
 
involved_in response to cholesterol ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within response to glucose IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in secondary palate development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in signal transduction involved in regulation of gene expression ISO
Inferred from Sequence Orthology
more info
 
involved_in transforming growth factor beta receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in transforming growth factor beta receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
 
involved_in ureteric bud development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in zygotic specification of dorsal/ventral axis ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
part_of SMAD protein complex ISO
Inferred from Sequence Orthology
more info
 
part_of activin responsive factor complex ISO
Inferred from Sequence Orthology
more info
 
located_in chromatin ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
part_of heteromeric SMAD protein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of heteromeric SMAD protein complex ISO
Inferred from Sequence Orthology
more info
 
part_of homomeric SMAD protein complex ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
 
part_of transcription regulator complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of transcription regulator complex ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
mothers against decapentaplegic homolog 2
Names
MAD homolog 2
Smad 2
mad-related protein 2
mothers against DPP homolog 2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

mRNA and Protein(s)

  1. NM_001252481.1NP_001239410.1  mothers against decapentaplegic homolog 2 isoform 1

    See identical proteins and their annotated locations for NP_001239410.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC164009
    Consensus CDS
    CCDS29350.1
    UniProtKB/Swiss-Prot
    Q62432, Q9D8P6
    UniProtKB/TrEMBL
    A0A6P7QF37
    Related
    ENSMUSP00000025453.9, ENSMUST00000025453.15
    Conserved Domains (2) summary
    cd10491
    Location:8172
    MH1_SMAD_2_3; N-terminal Mad Homology 1 (MH1) domain in SMAD2 and SMAD3
    cd10985
    Location:266456
    MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3
  2. NM_001311070.1NP_001297999.1  mothers against decapentaplegic homolog 2 isoform 2

    See identical proteins and their annotated locations for NP_001297999.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has a shorter 5' UTR and lacks an in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC164009, AK007817, AK078612, AY334552, BC058713, BM248478
    Consensus CDS
    CCDS79664.1
    UniProtKB/Swiss-Prot
    Q62432
    UniProtKB/TrEMBL
    A0A6P7QM27
    Related
    ENSMUSP00000109563.3, ENSMUST00000113930.3
    Conserved Domains (2) summary
    cd10491
    Location:8142
    MH1_SMAD_2_3; N-terminal Mad Homology 1 (MH1) domain in SMAD2 and SMAD3
    cd10985
    Location:236426
    MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3
  3. NM_010754.5NP_034884.2  mothers against decapentaplegic homolog 2 isoform 1

    See identical proteins and their annotated locations for NP_034884.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AC164009, AK007817, BC058713, BM248478, BU058005, CN456711
    Consensus CDS
    CCDS29350.1
    UniProtKB/Swiss-Prot
    Q62432, Q9D8P6
    UniProtKB/TrEMBL
    A0A6P7QF37
    Related
    ENSMUSP00000130115.2, ENSMUST00000168423.9
    Conserved Domains (2) summary
    cd10491
    Location:8172
    MH1_SMAD_2_3; N-terminal Mad Homology 1 (MH1) domain in SMAD2 and SMAD3
    cd10985
    Location:266456
    MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000084.7 Reference GRCm39 C57BL/6J

    Range
    76369898..76444819
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017317842.3XP_017173331.1  mothers against decapentaplegic homolog 2 isoform X2

    UniProtKB/Swiss-Prot
    Q62432
    UniProtKB/TrEMBL
    A0A6P7QM27
    Related
    ENSMUSP00000089439.7, ENSMUST00000091831.13
    Conserved Domains (2) summary
    cd10491
    Location:8142
    MH1_SMAD_2_3; N-terminal Mad Homology 1 (MH1) domain in SMAD2 and SMAD3
    cd10985
    Location:236426
    MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3
  2. XM_030250351.1XP_030106211.1  mothers against decapentaplegic homolog 2 isoform X2

    UniProtKB/TrEMBL
    A0A6P7QM27
    Conserved Domains (2) summary
    cd10491
    Location:8142
    MH1_SMAD_2_3; N-terminal Mad Homology 1 (MH1) domain in SMAD2 and SMAD3
    cd10985
    Location:236426
    MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3
  3. XM_006525699.4XP_006525762.1  mothers against decapentaplegic homolog 2 isoform X1

    See identical proteins and their annotated locations for XP_006525762.1

    UniProtKB/Swiss-Prot
    Q62432, Q9D8P6
    UniProtKB/TrEMBL
    A0A6P7QF37
    Conserved Domains (2) summary
    cd10491
    Location:8172
    MH1_SMAD_2_3; N-terminal Mad Homology 1 (MH1) domain in SMAD2 and SMAD3
    cd10985
    Location:266456
    MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3