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SOX9 SRY (sex determining region Y)-box 9 [ Homo sapiens (human) ]

Gene ID: 6662, updated on 15-Feb-2015
Official Symbol
SOX9provided by HGNC
Official Full Name
SRY (sex determining region Y)-box 9provided by HGNC
Primary source
HGNC:HGNC:11204
See related
Ensembl:ENSG00000125398; HPRD:06427; MIM:608160; Vega:OTTHUMG00000166300
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
CMD1; SRA1; CMPD1
Summary
The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008]
Orthologs
See SOX9 in MapViewer
Location:
17q24.3
Exon count:
3
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 17 NC_000017.11 (72121020..72126420)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (70117161..70122561)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723517 Neighboring gene long intergenic non-protein coding RNA 1152 Neighboring gene uncharacterized LOC101928205 Neighboring gene SOX9 antisense RNA 1 Neighboring gene uncharacterized LOC146795 Neighboring gene long intergenic non-protein coding RNA 673

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Camptomelic dysplasia
MedGen: C1861922 OMIM: 114290 GeneReviews: Campomelic Dysplasia
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-07-26)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-26)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
NHGRI GWA Catalog
Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control selection on genetic association studies.
NHGRI GWA Catalog
Genetics of coronary artery calcification among African Americans, a meta-analysis.
NHGRI GWA Catalog
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
NHGRI GWA Catalog
Genome-wide association study of lung function decline in adults with and without asthma.
NHGRI GWA Catalog
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
NHGRI GWA Catalog
Identification of a susceptibility locus for severe adolescent idiopathic scoliosis on chromosome 17q24.3.
NHGRI GWA Catalog
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Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
bHLH transcription factor binding IEA
Inferred from Electronic Annotation
more info
 
beta-catenin binding IEA
Inferred from Electronic Annotation
more info
 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
core promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enhancer binding IDA
Inferred from Direct Assay
more info
PubMed 
enhancer sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
pre-mRNA intronic binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
protein kinase A catalytic subunit binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
sequence-specific DNA binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
sequence-specific DNA binding transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
ERK1 and ERK2 cascade ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Sertoli cell development IEA
Inferred from Electronic Annotation
more info
 
Sertoli cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
astrocyte fate commitment IEA
Inferred from Electronic Annotation
more info
 
branching involved in ureteric bud morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cAMP-mediated signaling IDA
Inferred from Direct Assay
more info
PubMed 
cartilage condensation ISS
Inferred from Sequence or Structural Similarity
more info
 
cartilage development ISS
Inferred from Sequence or Structural Similarity
more info
 
cell fate specification ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to epidermal growth factor stimulus ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cellular response to heparin ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cellular response to interleukin-1 IEP
Inferred from Expression Pattern
more info
PubMed 
cellular response to mechanical stimulus ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cellular response to retinoic acid IEP
Inferred from Expression Pattern
more info
PubMed 
cellular response to transforming growth factor beta stimulus IDA
Inferred from Direct Assay
more info
PubMed 
chondrocyte differentiation involved in endochondral bone morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
chondrocyte hypertrophy ISS
Inferred from Sequence or Structural Similarity
more info
 
chromatin remodeling IDA
Inferred from Direct Assay
more info
PubMed 
cochlea morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
endocardial cushion morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
endocrine pancreas development IEA
Inferred from Electronic Annotation
more info
 
epidermal growth factor receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
epithelial cell proliferation involved in prostatic bud elongation ISS
Inferred from Sequence or Structural Similarity
more info
 
epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
epithelial tube branching involved in lung morphogenesis IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
 
hair follicle development ISS
Inferred from Sequence or Structural Similarity
more info
 
heart valve development ISS
Inferred from Sequence or Structural Similarity
more info
 
heart valve formation IEA
Inferred from Electronic Annotation
more info
 
heart valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
intestinal epithelial structure maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
intrahepatic bile duct development IEA
Inferred from Electronic Annotation
more info
 
limb bud formation IEA
Inferred from Electronic Annotation
more info
 
lung epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
male germ-line sex determination ISS
Inferred from Sequence or Structural Similarity
more info
 
male gonad development IEP
Inferred from Expression Pattern
more info
PubMed 
male gonad development IMP
Inferred from Mutant Phenotype
more info
PubMed 
mammary gland development IEA
Inferred from Electronic Annotation
more info
 
metanephric nephron tubule formation ISS
Inferred from Sequence or Structural Similarity
more info
 
morphogenesis of a branching epithelium ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of biomineral tissue development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of bone mineralization IEA
Inferred from Electronic Annotation
more info
 
negative regulation of canonical Wnt signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of chondrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of epithelial cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of immune system process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of mesenchymal cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of myoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of ossification ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of photoreceptor cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
neural crest cell development IEA
Inferred from Electronic Annotation
more info
 
notochord development IEA
Inferred from Electronic Annotation
more info
 
nucleosome assembly IDA
Inferred from Direct Assay
more info
PubMed 
oligodendrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
ossification IEA
Inferred from Electronic Annotation
more info
 
otic vesicle formation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of branching involved in ureteric bud morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cartilage development IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell proliferation involved in heart morphogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of chondrocyte differentiation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of chondrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of epithelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of epithelial cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of epithelial cell proliferation IEP
Inferred from Expression Pattern
more info
PubMed 
positive regulation of epithelial cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of extracellular matrix assembly IEA
Inferred from Electronic Annotation
more info
 
positive regulation of kidney development ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of male gonad development IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of mesenchymal cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of mesenchymal stem cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of phosphatidylinositol 3-kinase signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
prostate gland development IEP
Inferred from Expression Pattern
more info
PubMed 
protein complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
protein kinase B signaling IEA
Inferred from Electronic Annotation
more info
 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of branching involved in lung morphogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of cell adhesion IEA
Inferred from Electronic Annotation
more info
 
regulation of cell cycle process IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cell proliferation involved in tissue homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of epithelial cell proliferation involved in lung morphogenesis IEA
Inferred from Electronic Annotation
more info
 
renal vesicle induction ISS
Inferred from Sequence or Structural Similarity
more info
 
retina development in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
 
retinal rod cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
single organismal cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
 
skeletal system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
somatic stem cell maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
tissue homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
ureter morphogenesis IEA
Inferred from Electronic Annotation
more info
 
ureter smooth muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
ureter urothelium development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear transcription factor complex IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
transcription factor SOX-9
Names
transcription factor SOX-9
SRY (sex-determining region Y)-box 9 protein
SRY-related HMG-box, gene 9

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_012490.1 RefSeqGene

    Range
    5001..10401
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000346.3NP_000337.1  transcription factor SOX-9

    See proteins identical to NP_000337.1

    Status: REVIEWED

    Source sequence(s)
    AC007461, BC007951, BC018276, Z46629
    Consensus CDS
    CCDS11689.1
    UniProtKB/Swiss-Prot
    P48436
    Related
    ENSP00000245479, OTTHUMP00000232537, ENST00000245479, OTTHUMT00000389032
    Conserved Domains (2) summary
    cd01388
    Location:104174
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam12444
    Location:2195
    Sox_N; Sox developmental protein N terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38 Primary Assembly

    Range
    72121020..72126420
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    70181222..70186622
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000149.1 Alternate HuRef

    Range
    65510108..65515656
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)