EYA1

Highest pathogenic variant AF is 0.00001364981

Gene type

protein_coding

Transcript type

protein_coding

Transcript

ENST00000340726

Coding exons

16

Length

164800

Individuals with no LoFs

125740

Homozygous LoFs

0

Heterozygous LoFs

7

Defined

125747

p

0.0000278

Function

FUNCTION: Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (By similarity). Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress (PubMed:19234442). Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis (By similarity). Has also phosphatase activity with proteins phosphorylated on Ser and Thr residues (in vitro) (By similarity). Required for normal embryonic development of the craniofacial and trunk skeleton, kidneys and ears (By similarity). Together with SIX1, it plays an important role in hypaxial muscle development; in this it is functionally redundant with EYA2 (By similarity). {ECO:0000250|UniProtKB:P97767, ECO:0000269|PubMed:19234442}.;

Disease

DISEASE: Branchiootorenal syndrome 1 (BOR1) [MIM:113650]: A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations. {ECO:0000269|PubMed:10464653, ECO:0000269|PubMed:10655545, ECO:0000269|PubMed:10991693, ECO:0000269|PubMed:11558900, ECO:0000269|PubMed:21280147, ECO:0000269|PubMed:9361030}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Otofaciocervical syndrome 1 (OTFCS1) [MIM:166780]: A disorder characterized by facial dysmorphism, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability. {ECO:0000269|PubMed:11409867, ECO:0000269|PubMed:16441263}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Branchiootic syndrome 1 (BOS1) [MIM:602588]: A syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies overlap with those seen in individuals with the branchiootorenal syndrome. However renal anomalies are absent in branchiootic syndrome patients. {ECO:0000269|PubMed:12701758, ECO:0000269|PubMed:16691597, ECO:0000269|PubMed:9359046}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Anterior segment anomalies with or without cataract (ASA) [MIM:602588]: A disease characterized by various types of developmental eye anomalies, in the absence of other abnormalities. The phenotypic spectrum of anterior segment anomalies include central corneal opacity, Peters anomaly, and bilateral persistence of the pupillary membrane. Some patients have cataract. {ECO:0000269|PubMed:10655545}. Note=The disease is caused by mutations affecting the gene represented in this entry.;