ATOH7 atonal bHLH transcription factor 7
Gene ID: 220202, updated on 14-Nov-2024Gene type: protein coding
Also known as: Math5; NCRNA; RNANC; PHPVAR; bHLHa13
- See all available tests in GTR for this gene
- Go to complete Gene record for ATOH7
- Go to Variation Viewer for ATOH7 variants
Summary
This intronless gene encodes a member of the basic helix-loop-helix family of transcription factors, with similarity to Drosophila atonal gene that controls photoreceptor development. Studies in mice suggest that this gene plays a central role in retinal ganglion cell and optic nerve formation. Mutations in this gene are associated with nonsyndromic congenital retinal nonattachment. [provided by RefSeq, Dec 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of optic disc parameters. GeneReviews: Not available | |
| Genetic variants associated with disordered eating. GeneReviews: Not available | |
| Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. GeneReviews: Not available | |
| Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. GeneReviews: Not available | |
| Persistent hyperplastic primary vitreous, autosomal recessive | See labs |
Genomic context
- Location:
- 10q21.3; 10q21.3-q22.1
- Sequence:
- Chromosome: 10; NC_000010.11 (68230595..68232113, complement)
- Total number of exons:
- 1
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ATOH7 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.