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

Gene ID: 55994, updated on 16-Apr-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)
  • Targeted (9)  1 citation
  • Endonuclease-mediated (1) 

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 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)

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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