SOX5 SRY-box transcription factor 5
Gene ID: 6660, updated on 7-Apr-2024Gene type: protein coding
Also known as: L-SOX5; LAMSHF; L-SOX5B; L-SOX5F
- See all available tests in GTR for this gene
- Go to complete Gene record for SOX5
- Go to Variation Viewer for SOX5 variants
Summary
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia. GeneReviews: Not available | |
| A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis. GeneReviews: Not available | |
| Genome-wide association of lipid-lowering response to statins in combined study populations. GeneReviews: Not available | |
| Genome-wide association study of PR interval. GeneReviews: Not available | |
| Genomewide association study of a rapid progression cohort identifies new susceptibility alleles for AIDS (ANRS Genomewide Association Study 03). GeneReviews: Not available | |
| Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs. GeneReviews: Not available | |
| Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. GeneReviews: Not available | |
| Lamb-Shaffer syndrome | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2016-08-19) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2016-08-19) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 12p12.1
- Sequence:
- Chromosome: 12; NC_000012.12 (23529504..24562650, complement)
- Total number of exons:
- 29
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SOX5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ALSoD/SOX5 genetic mutations
- 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
- SOX5 @ LOVD
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.