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

Gene ID: 4093, updated on 28-Oct-2018

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; Vega:OTTHUMG00000016740
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:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat'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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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 
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_001127217.2NP_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_005905.5NP_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, OTTHUMP00000178565, ENST00000350148.9, OTTHUMT00000044526
    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 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 GRCh38.p12 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p12 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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