EYA1 EYA transcriptional coactivator and phosphatase 1
Gene ID: 2138, updated on 3-Apr-2024Gene type: protein coding
Also known as: BOP; BOR; BOS1; OFC1
- See all available tests in GTR for this gene
- Go to complete Gene record for EYA1
- Go to Variation Viewer for EYA1 variants
Summary
This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Branchiootic syndrome 1 | See labs |
| Branchiootorenal syndrome 1 | See labs |
| Genome-wide association analyses identify variants in developmental genes associated with hypospadias. GeneReviews: Not available | |
| Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease. GeneReviews: Not available | |
| Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age. GeneReviews: Not available | |
| Genome-wide association of sleep and circadian phenotypes. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies new susceptibility loci for migraine. GeneReviews: Not available | |
| Otofaciocervical syndrome 1 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-08-25) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-08-25) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 8q13.3
- Sequence:
- Chromosome: 8; NC_000008.11 (71197433..71548094, complement)
- Total number of exons:
- 25
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EYA1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- EYA1 database
- 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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