SOX6 SRY-box transcription factor 6
Gene ID: 55553, updated on 12-Nov-2024Gene type: protein coding
Also known as: SOXD; HSSOX6; TOLCAS
- See all available tests in GTR for this gene
- Go to complete Gene record for SOX6
- Go to Variation Viewer for SOX6 variants
Summary
This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association analysis implicates SOX6 as a candidate gene for wrist bone mass. GeneReviews: Not available | |
| Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations. GeneReviews: Not available | |
| Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. 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 | |
| GWAS of Longevity in CHARGE Consortium Confirms APOE and FOXO3 Candidacy. GeneReviews: Not available | |
| Identification of novel germline polymorphisms governing capecitabine sensitivity. GeneReviews: Not available | |
| Multistage genome-wide association meta-analyses identified two new loci for bone mineral density. GeneReviews: Not available | |
| Powerful bivariate genome-wide association analyses suggest the SOX6 gene influencing both obesity and osteoporosis phenotypes in males. GeneReviews: Not available | |
| The Contribution of Common Genetic Variation to Nicotine and Cotinine Glucuronidation in Multiple Ethnic/Racial Populations. GeneReviews: Not available | |
| Tolchin-Le Caignec syndrome | not available |
| Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. GeneReviews: Not available |
Genomic context
- Location:
- 11p15.2
- Sequence:
- Chromosome: 11; NC_000011.10 (15966449..16738477, complement)
- Total number of exons:
- 22
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SOX6 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
- Variation ViewerRelated Variants
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