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

    Gene ID: 17126, updated on 9-Dec-2024

    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 several processes, including heart development; odontoblast differentiation; and positive regulation of epithelial to mesenchymal transition. Acts upstream of or within several processes, including cell surface receptor protein serine/threonine kinase signaling pathway; embryonic morphogenesis; and regulation of gene expression. Located in cytoplasm and nucleus. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; genitourinary system; and sensory organ. Human ortholog(s) of this gene implicated in Loeys-Dietz syndrome 6; Lynch syndrome; cervical cancer; and ovarian cancer. Orthologous to human SMAD2 (SMAD family member 2). [provided by Alliance of Genome Resources, Dec 2024]
    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
    RS_2024_02 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 cDNA sequence BC026513 Neighboring gene predicted gene, 52360 Neighboring gene predicted gene, 41778 Neighboring gene STARR-seq mESC enhancer starr_45094 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

    General gene information

    Gene Ontology Provided by MGI

    Items 1 - 25 of 38
    Function Evidence Code Pubs
    enables DNA binding PubMed 
    contributes_to DNA binding  
    enables DNA-binding transcription activator activity, RNA polymerase II-specific PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific  
    contributes_to DNA-binding transcription factor activity  
    enables DNA-binding transcription factor activity  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific  
    enables DNA-binding transcription factor binding PubMed 
    enables DNA-binding transcription factor binding  
    enables I-SMAD binding  
    enables I-SMAD binding  
    enables I-SMAD binding  
    enables R-SMAD binding  
    enables R-SMAD binding  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding  
    enables RNA polymerase II-specific DNA-binding transcription factor binding PubMed 
    enables SMAD binding PubMed 
    enables SMAD binding  
    enables chromatin binding PubMed 
    enables co-SMAD binding  
    enables co-SMAD binding  
    enables disordered domain specific binding  
    enables disordered domain specific binding  
    enables double-stranded DNA binding PubMed 
    enables identical protein binding PubMed 
    enables identical protein binding  
    enables metal ion binding  
    enables phosphatase binding  
    enables phosphatase binding  
    enables protein binding PubMed 
    enables tau protein binding PubMed 
    enables transforming growth factor beta receptor binding  
    enables type I transforming growth factor beta receptor binding  
    enables type I transforming growth factor beta receptor binding  
    enables ubiquitin protein ligase binding  
    enables ubiquitin protein ligase binding  
    Items 1 - 25 of 38
    Items 1 - 25 of 80
    Process Evidence Code Pubs
    involved_in SMAD protein signal transduction  
    acts_upstream_of_or_within SMAD protein signal transduction PubMed 
    acts_upstream_of_or_within SMAD protein signal transduction PubMed 
    involved_in SMAD protein signal transduction  
    involved_in activin receptor signaling pathway  
    involved_in activin receptor signaling pathway  
    involved_in activin receptor signaling pathway PubMed 
    involved_in adrenal gland development  
    involved_in adrenal gland development  
    involved_in anatomical structure morphogenesis  
    acts_upstream_of_or_within anterior/posterior pattern specification PubMed 
    involved_in aortic valve morphogenesis PubMed 
    involved_in cell differentiation  
    acts_upstream_of_or_within cell fate commitment PubMed 
    acts_upstream_of_or_within cell population proliferation PubMed 
    involved_in cellular response to glucose stimulus  
    involved_in determination of left/right asymmetry in lateral mesoderm  
    involved_in determination of left/right asymmetry in lateral mesoderm  
    acts_upstream_of_or_within developmental growth PubMed 
    acts_upstream_of_or_within embryonic cranial skeleton morphogenesis PubMed 
    acts_upstream_of_or_within embryonic foregut morphogenesis PubMed 
    acts_upstream_of_or_within embryonic pattern specification PubMed 
    involved_in endocardial cushion morphogenesis PubMed 
    acts_upstream_of_or_within endoderm development PubMed 
    acts_upstream_of_or_within endoderm formation PubMed 
    acts_upstream_of_or_within gastrulation PubMed 
    acts_upstream_of_or_within heart development PubMed 
    acts_upstream_of_or_within in utero embryonic development PubMed 
    acts_upstream_of_or_within in utero embryonic development PubMed 
    acts_upstream_of_or_within insulin secretion PubMed 
    acts_upstream_of_or_within intracellular signal transduction PubMed 
    acts_upstream_of_or_within lung development PubMed 
    acts_upstream_of_or_within mesoderm formation PubMed 
    involved_in negative regulation of DNA-templated transcription  
    involved_in negative regulation of DNA-templated transcription  
    involved_in negative regulation of cell population proliferation  
    involved_in negative regulation of cell population proliferation  
    acts_upstream_of_or_within negative regulation of gene expression PubMed 
    involved_in nodal signaling pathway  
    involved_in nodal signaling pathway  
    involved_in odontoblast differentiation PubMed 
    acts_upstream_of_or_within organ growth PubMed 
    acts_upstream_of_or_within pancreas development PubMed 
    acts_upstream_of_or_within paraxial mesoderm morphogenesis PubMed 
    acts_upstream_of_or_within pattern specification process PubMed 
    acts_upstream_of_or_within pericardium development PubMed 
    involved_in positive regulation of BMP signaling pathway  
    involved_in positive regulation of BMP signaling pathway  
    acts_upstream_of_or_within positive regulation of DNA-templated transcription PubMed 
    involved_in positive regulation of DNA-templated transcription PubMed 
    involved_in positive regulation of DNA-templated transcription  
    involved_in positive regulation of epithelial to mesenchymal transition PubMed 
    acts_upstream_of_or_within positive regulation of gene expression PubMed 
    involved_in positive regulation of transcription by RNA polymerase II  
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II PubMed 
    involved_in positive regulation of transcription by RNA polymerase II  
    acts_upstream_of_or_within post-embryonic development PubMed 
    acts_upstream_of_or_within protein phosphorylation PubMed 
    acts_upstream_of_or_within protein phosphorylation PubMed 
    involved_in pulmonary valve morphogenesis PubMed 
    involved_in regulation of DNA-templated transcription PubMed 
    acts_upstream_of_or_within regulation of binding PubMed 
    involved_in regulation of transforming growth factor beta receptor signaling pathway  
    involved_in regulation of transforming growth factor beta receptor signaling pathway  
    involved_in response to cholesterol  
    involved_in response to cholesterol  
    acts_upstream_of_or_within response to glucose PubMed 
    acts_upstream_of_or_within response to transforming growth factor beta PubMed 
    involved_in secondary palate development PubMed 
    involved_in signal transduction involved in regulation of gene expression  
    involved_in signal transduction involved in regulation of gene expression  
    involved_in transforming growth factor beta receptor signaling pathway  
    acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway PubMed 
    acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway PubMed 
    involved_in transforming growth factor beta receptor signaling pathway  
    involved_in transforming growth factor beta receptor signaling pathway PubMed 
    involved_in ureteric bud development PubMed 
    involved_in zygotic specification of dorsal/ventral axis  
    involved_in zygotic specification of dorsal/ventral axis  
    Items 1 - 25 of 80
    Component Evidence Code Pubs
    part_of SMAD protein complex  
    part_of activin responsive factor complex  
    part_of activin responsive factor complex  
    located_in chromatin  
    located_in chromatin  
    located_in cytoplasm PubMed 
    located_in cytoplasm  
    part_of heteromeric SMAD protein complex  
    part_of heteromeric SMAD protein complex  
    part_of heteromeric SMAD protein complex PubMed 
    part_of homomeric SMAD protein complex  
    part_of homomeric SMAD protein complex  
    located_in nucleoplasm  
    located_in nucleus PubMed 
    located_in nucleus  
    part_of protein-containing complex  
    part_of transcription regulator complex PubMed 
    part_of transcription regulator complex  

    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, Q6GU18, Q6VP00, Q9D8P6
      UniProtKB/TrEMBL
      E9Q3M0
      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/TrEMBL
      E9Q3M0
      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, Q6GU18, Q6VP00, Q9D8P6
      UniProtKB/TrEMBL
      E9Q3M0
      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: GCF_000001635.27-RS_2024_02

    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/TrEMBL
      E9Q3M0
      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
      E9Q3M0
      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, Q6GU18, Q6VP00, Q9D8P6
      UniProtKB/TrEMBL
      E9Q3M0
      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
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