EYA1
Sign in to saveAlso known as BOP, BOR, BOS1, OFC1, EYA transcriptional coactivator and phosphatase 1
protein-coding gene in the species Homo sapiens
Gene data
EYA1- Name
- EYA transcriptional coactivator and phosphatase 1
- Type
- protein-coding
- Aliases
- BOP, BOR, BOS1, OFC1, OTFCS
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].
via MyGene.info
Gene · Ensembl
EYA transcriptional coactivator and phosphatase 1
- Symbol
- EYA1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 8:71,197,432-71,592,025
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 74943
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/2138
- genomic end
- 71592025
- genomic start
- 72109668
- chromosome
- human chromosome 8
- cytogenetic location
- 8q13.3
- expressed in
- periodontal fiber
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