SIX1 SIX homeobox 1
Gene ID: 6495, updated on 3-Nov-2024Gene type: protein coding
Also known as: BOS3; TIP39; DFNA23
- See all available tests in GTR for this gene
- Go to complete Gene record for SIX1
- Go to Variation Viewer for SIX1 variants
Summary
The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma. GeneReviews: Not available | |
| A genome-wide association study of optic disc parameters. GeneReviews: Not available | |
| A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer. GeneReviews: Not available | |
| Autosomal dominant nonsyndromic hearing loss 23 | not available |
| Branchiootic syndrome 3 | not available |
| Branchiootorenal syndrome 1 | not available |
| Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. GeneReviews: Not available | |
| Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2012-03-22) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2012-03-22) ClinGen Genome Curation Page |
Genomic context
- Location:
- 14q23.1
- Sequence:
- Chromosome: 14; NC_000014.9 (60643421..60649477, complement)
- Total number of exons:
- 2
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SIX1 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
- SIX1 database
- Variation ViewerRelated Variants
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