LongevityMap Gene
Gene details
- HGNC symbol
- SOX5
- Aliases
- L-SOX5; LAMSHF; L-SOX5B; L-SOX5F
- Common name
- SRY-box 5
- Description
- 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]
- Cytogenetic Location
- 12p12.1
- UCSC Genome Browser
- View 12p12.1 on the UCSC genome browser
- OMIM
- 604975
- Ensembl
- ENSG00000134532
- UniProt/Swiss-Prot
- A0A024RB06_HUMAN
- Entrez Gene
- 6660
- UniGene
- 434948
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
In other databases
- CellAge
- This gene is present as SOX5
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- Dutch
- Study Design
- Genome-wide association study in 403 unrelated nonagenarians from long-living families and 1670 younger controls. Strongest candidates were then investigated in a meta-analysis of 4149 nonagenarian cases and 7582 younger controls.
- Conclusions
- No SNP reached significance in the GWAS but 62 SNPs, many in genes, had an indicative association with survival into old age. Of these 62 SNPs then studied in the meta-analysis, 61 were not significant.
- Indentifier
- rs11047358
- Reference