SOX4 SRY-box transcription factor 4
Gene ID: 6659, updated on 13-Nov-2024Gene type: protein coding
Also known as: CSS10; EVI16
- See all available tests in GTR for this gene
- Go to complete Gene record for SOX4
- Go to Variation Viewer for SOX4 variants
Summary
This intronless 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, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Coffin-Siris syndrome 10 | See labs |
| Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk. GeneReviews: Not available | |
| Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. GeneReviews: Not available | |
| Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. GeneReviews: Not available |
Genomic context
- Location:
- 6p22.3
- Sequence:
- Chromosome: 6; NC_000006.12 (21593751..21598619)
- Total number of exons:
- 1
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SOX4 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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