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

Gene ID: 55994, updated on 8-Oct-2019

Summary

Official Symbol
Smad9provided by MGI
Official Full Name
SMAD family member 9provided by MGI
Primary source
MGI:MGI:1859993
See related
Ensembl:ENSMUSG00000027796
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

Genomic context

See Smad9 in Genome Data Viewer
Location:
3; 3 C
Exon count:
7
Annotation release Status Assembly Chr Location
108 current GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (54755455..54801662)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 3 NC_000069.5 (54559504..54605179)

Chromosome 3 - NC_000069.6Genomic Context describing neighboring genes Neighboring gene SPT20 SAGA complex component Neighboring gene exosome component 8 Neighboring gene asparagine-linked glycosylation 5 (dolichyl-phosphate beta-glucosyltransferase) 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)

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
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 IDA
Inferred from Direct Assay
more info
PubMed 
BMP signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
Mullerian duct regression ISO
Inferred from Sequence Orthology
more info
 
SMAD protein signal transduction IGI
Inferred from Genetic Interaction
more info
PubMed 
bone development IGI
Inferred from Genetic Interaction
more info
PubMed 
cartilage development IGI
Inferred from Genetic Interaction
more info
PubMed 
cellular response to organic cyclic compound IDA
Inferred from Direct Assay
more info
PubMed 
hindbrain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
midbrain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell differentiation ISO
Inferred from Sequence Orthology
more info
 
positive regulation of transcription, DNA-templated ISO
Inferred from Sequence Orthology
more info
 
protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
transforming growth factor beta receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
ureteric bud development IEP
Inferred from Expression Pattern
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol ISO
Inferred from Sequence Orthology
more info
 
intracellular IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
nucleus IDA
Inferred from Direct Assay
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 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.

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
    Q9JIW5
    UniProtKB/TrEMBL
    Q3UVC6
    Related
    ENSMUSP00000029371.2, ENSMUST00000029371.2
    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: Mus musculus Annotation Release 108 details...Open this link in a new tab

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

Reference GRCm38.p6 C57BL/6J

Genomic

  1. NC_000069.6 Reference GRCm38.p6 C57BL/6J

    Range
    54755455..54801662
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006501728.3XP_006501791.1  mothers against decapentaplegic homolog 9 isoform X1

    See identical proteins and their annotated locations for XP_006501791.1

    UniProtKB/Swiss-Prot
    Q9JIW5
    UniProtKB/TrEMBL
    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_006501729.3XP_006501792.1  mothers against decapentaplegic homolog 9 isoform X2

    Conserved Domains (2) summary
    cd10490
    Location:6127
    MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)
    cl00056
    Location:221421
    MH2; C-terminal Mad Homology 2 (MH2) domain
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