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    SMAD9 SMAD family member 9 [ Homo sapiens (human) ]

    Gene ID: 4093, updated on 3-May-2020

    Summary

    Official Symbol
    SMAD9provided by HGNC
    Official Full Name
    SMAD family member 9provided by HGNC
    Primary source
    HGNC:HGNC:6774
    See related
    Ensembl:ENSG00000120693 MIM:603295
    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
    PPH2; MADH6; MADH9; SMAD8; SMAD8A; SMAD8B; SMAD8/9
    Summary
    The protein encoded by this gene is a member of the SMAD family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
    Expression
    Broad expression in thyroid (RPKM 18.3), prostate (RPKM 5.8) and 17 other tissues See more
    Orthologs

    Genomic context

    See SMAD9 in Genome Data Viewer
    Location:
    13q13.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20200228 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (36844831..36920721, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (37418968..37494409, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene nudE neurodevelopment protein 1 pseudogene 2 Neighboring gene regulatory factor X associated protein Neighboring gene late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 pseudogene 1 Neighboring gene ribosomal protein L29 pseudogene 28

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat-treated pulmonary arterial smooth muscle cells modulate levels of phosphorylated SMAD1/5/8 proteins and SMAD1/5/8-SMAD4 protein complex, which are repressed by cocaine exposure PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    DNA-binding transcription factor activity, RNA polymerase II-specific ISM
    Inferred from Sequence Model
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    BMP signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    BMP signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    SMAD protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    SMAD protein signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cellular response to BMP stimulus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus TAS
    Traceable Author Statement
    more info
    PubMed 
    transforming growth factor beta receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    SMAD protein complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    intracellular TAS
    Traceable Author Statement
    more info
    PubMed 
    nuclear chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription factor complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    mothers against decapentaplegic homolog 9
    Names
    MAD homolog 9
    Mothers against decapentaplegic, drosophila, homolog of, 9
    SMAD, mothers against DPP homolog 9

    NCBI Reference Sequences (RefSeq)

    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_016963.1 RefSeqGene

      Range
      5001..80442
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_703

    mRNA and Protein(s)

    1. NM_001127217.3NP_001120689.1  mothers against decapentaplegic homolog 9 isoform a

      See identical proteins and their annotated locations for NP_001120689.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AL138706, BC011559, CN291481, D83760
      Consensus CDS
      CCDS45032.1
      UniProtKB/Swiss-Prot
      O15198
      Related
      ENSP00000369154.4, ENST00000379826.4
      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:267467
      MH2; C-terminal Mad Homology 2 (MH2) domain
    2. NM_001378621.1NP_001365550.1  mothers against decapentaplegic homolog 9 isoform b

      Status: REVIEWED

      Source sequence(s)
      AL138706
    3. NM_005905.6NP_005896.1  mothers against decapentaplegic homolog 9 isoform b

      See identical proteins and their annotated locations for NP_005896.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b) lacks an alternate in-frame exon, compared to variant a, resulting in a shorter protein (isoform b), compared to isoform a.
      Source sequence(s)
      AL138706, BC011559, CN291481
      Consensus CDS
      CCDS9360.1
      UniProtKB/Swiss-Prot
      O15198
      UniProtKB/TrEMBL
      A0A024RDR3
      Related
      ENSP00000239885.6, ENST00000350148.9
      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: Homo sapiens Updated Annotation Release 109.

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

      Range
      36844831..36920721 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006719827.3XP_006719890.1  mothers against decapentaplegic homolog 9 isoform X1

      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:267420
      MH2; C-terminal Mad Homology 2 (MH2) domain
    2. XM_005266404.3XP_005266461.1  mothers against decapentaplegic homolog 9 isoform X4

      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:144297
      MH2; C-terminal Mad Homology 2 (MH2) domain
    3. XM_005266403.3XP_005266460.1  mothers against decapentaplegic homolog 9 isoform X3

      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:181334
      MH2; C-terminal Mad Homology 2 (MH2) domain
    4. XM_005266401.3XP_005266458.1  mothers against decapentaplegic homolog 9 isoform X2

      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:230383
      MH2; C-terminal Mad Homology 2 (MH2) domain
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