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    Smad9 SMAD family member 9 [ Mus musculus (house mouse) ]

    Gene ID: 55994, updated on 9-Dec-2024

    Summary

    Official Symbol
    Smad9provided by MGI
    Official Full Name
    SMAD family member 9provided by MGI
    Primary source
    MGI:MGI:1859993
    See related
    Ensembl:ENSMUSG00000027796 AllianceGenome:MGI:1859993
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    MADH6; Madh8; Madh9; Smad8
    Summary
    This gene encodes a member of a family of proteins that act as downstream effectors of the bone morphogenetic protein (BMP) signaling pathway. The encoded protein is phosphorylated by BMP receptors, which stimulates its binding to SMAD4 and translocation into the nucleus, where it functions as a regulator of transcription. Activity of this protein is important for embryonic development. Mutation of this gene results in defects in pulmonary vasculature. [provided by RefSeq, Mar 2013]
    Expression
    Biased expression in adrenal adult (RPKM 6.9), cerebellum adult (RPKM 1.8) and 13 other tissues See more
    Orthologs
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    Genomic context

    See Smad9 in Genome Data Viewer
    Location:
    3 C; 3 25.62 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (54662873..54709162)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (54755455..54801662)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene SPT20 SAGA complex component Neighboring gene exosome component 8 Neighboring gene ALG5 dolichyl-phosphate beta-glucosyltransferase Neighboring gene STARR-seq mESC enhancer starr_07686 Neighboring gene regulatory factor X-associated protein Neighboring gene splicing factor, arginine/serine-rich 10 pseudogene

    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)
    • Endonuclease-mediated (1) 
    • Targeted (9)  1 citation

    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 IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables I-SMAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within BMP signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in BMP signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in Mullerian duct regression ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in SMAD protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in SMAD protein signal transduction IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in anatomical structure morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within bone development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within cartilage development 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 cellular response to organic cyclic compound IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within hindbrain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within midbrain development 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 cell differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in stem cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in transforming growth factor beta receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ureteric bud development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    part_of heteromeric SMAD protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription regulator complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    mothers against decapentaplegic homolog 9
    Names
    MAD homolog 9
    mothers against DPP homolog 9
    NP_062356.3
    XP_006501791.1
    XP_036019060.1

    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_019483.5NP_062356.3  mothers against decapentaplegic homolog 9

      See identical proteins and their annotated locations for NP_062356.3

      Status: REVIEWED

      Source sequence(s)
      AK137411, CK636610
      Consensus CDS
      CCDS17354.1
      UniProtKB/Swiss-Prot
      Q8CFF9, Q9JIW5
      UniProtKB/TrEMBL
      Q0VER3, Q3UVC6
      Related
      ENSMUSP00000029371.3, ENSMUST00000029371.3
      Conserved Domains (2) summary
      cd10490
      Location:13136
      MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)
      cl00056
      Location:230430
      MH2; C-terminal Mad Homology 2 (MH2) domain

    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_000069.7 Reference GRCm39 C57BL/6J

      Range
      54662873..54709162
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006501728.4XP_006501791.1  mothers against decapentaplegic homolog 9 isoform X2

      See identical proteins and their annotated locations for XP_006501791.1

      UniProtKB/Swiss-Prot
      Q8CFF9, Q9JIW5
      UniProtKB/TrEMBL
      Q0VER3, Q3UVC6
      Conserved Domains (2) summary
      cd10490
      Location:13136
      MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)
      cl00056
      Location:230430
      MH2; C-terminal Mad Homology 2 (MH2) domain
    2. XM_036163167.1XP_036019060.1  mothers against decapentaplegic homolog 9 isoform X1

      UniProtKB/TrEMBL
      Q0VER3
      Conserved Domains (2) summary
      cd10490
      Location:41162
      MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)
      cl00056
      Location:256456
      MH2; C-terminal Mad Homology 2 (MH2) domain