SPATA7 spermatogenesis associated 7
Gene ID: 55812, updated on 11-Apr-2024Gene type: protein coding
Also known as: HSD3; LCA3; RP94; HSD-3.1; HEL-S-296
- See all available tests in GTR for this gene
- Go to complete Gene record for SPATA7
- Go to Variation Viewer for SPATA7 variants
Summary
This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetics of coronary artery calcification among African Americans, a meta-analysis. GeneReviews: Not available | |
| Leber congenital amaurosis 3 MedGen: C1858677OMIM: 604232GeneReviews: Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview | See labs |
| Whole genome association scan for genetic polymorphisms influencing information processing speed. GeneReviews: Not available |
Genomic context
- Location:
- 14q31.3
- Sequence:
- Chromosome: 14; NC_000014.9 (88385657..88470350)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SPATA7 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
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.