SOX9 SRY-box transcription factor 9
Gene ID: 6662, updated on 27-Aug-2024Gene type: protein coding
Also known as: CMD1; SRA1; CMPD1; SRXX2; SRXY10
- See all available tests in GTR for this gene
- Go to complete Gene record for SOX9
- Go to Variation Viewer for SOX9 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. GeneReviews: Not available | |
| Camptomelic dysplasia | See labs |
| Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control selection on genetic association studies. GeneReviews: Not available | |
| Genetics of coronary artery calcification among African Americans, a meta-analysis. GeneReviews: Not available | |
| Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. GeneReviews: Not available | |
| Genome-wide association study of lung function decline in adults with and without asthma. GeneReviews: Not available | |
| Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. GeneReviews: Not available | |
| Identification of a susceptibility locus for severe adolescent idiopathic scoliosis on chromosome 17q24.3. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2023-05-10) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2023-05-10) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 17q24.3
- Sequence:
- Chromosome: 17; NC_000017.11 (72121020..72126416)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SOX9 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SOX9 database
- Variation ViewerRelated Variants
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