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

    Gene ID: 17126, updated on 5-Nov-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, Nov 2024]
    Expression
    Ubiquitous expression in whole brain E14.5 (RPKM 7.1), bladder adult (RPKM 6.8) and 28 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    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 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

    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
     
    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
     
    enables I-SMAD binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables I-SMAD binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables R-SMAD binding IEA
    Inferred from Electronic Annotation
    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
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    enables co-SMAD binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables disordered domain specific binding IEA
    Inferred from Electronic Annotation
    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 identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatase 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 IEA
    Inferred from Electronic Annotation
    more info
     
    enables type I transforming growth factor beta receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ubiquitin protein ligase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ubiquitin protein ligase binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in SMAD protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within SMAD protein signal transduction IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within SMAD protein signal transduction ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in SMAD protein signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in activin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in activin receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in activin receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in adrenal gland development IEA
    Inferred from Electronic Annotation
    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
     
    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
     
    acts_upstream_of_or_within cell fate commitment IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cell population proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in cellular response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in determination of left/right asymmetry in lateral mesoderm IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in determination of left/right asymmetry in lateral mesoderm ISO
    Inferred from Sequence Orthology
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nodal signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in odontoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    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 transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 NAS
    Non-traceable Author Statement
    more info
    PubMed 
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transforming growth factor beta receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to cholesterol IEA
    Inferred from Electronic Annotation
    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 
    acts_upstream_of_or_within response to transforming growth factor beta 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 IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    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 transforming growth factor beta receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in ureteric bud development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in zygotic specification of dorsal/ventral axis IEA
    Inferred from Electronic Annotation
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    part_of activin responsive factor complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in chromatin IEA
    Inferred from Electronic Annotation
    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
     
    part_of heteromeric SMAD protein complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of heteromeric SMAD protein complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of homomeric SMAD protein complex IEA
    Inferred from Electronic Annotation
    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, 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