EYA1 (EYA transcriptional coactivator and phosphatase 1)

2009-06-01  

Identity

HGNC
LOCATION
8q13.3
LOCUSID
ALIAS
BOP,BOR,BOS1,OFC1
FUSION GENES

Other Information

Locus ID:

NCBI: 2138
MIM: 601653
HGNC: 3519
Ensembl: ENSG00000104313

Variants:

dbSNP: 2138
ClinVar: 2138
TCGA: ENSG00000104313
COSMIC: EYA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104313ENST00000303824A6NCB9
ENSG00000104313ENST00000340726Q99502
ENSG00000104313ENST00000340726A0A024R813
ENSG00000104313ENST00000388740Q99502
ENSG00000104313ENST00000388741E7EQM5
ENSG00000104313ENST00000388742Q99502
ENSG00000104313ENST00000388742A0A024R813
ENSG00000104313ENST00000388743F8WB53
ENSG00000104313ENST00000419131Q99502
ENSG00000104313ENST00000465115E5RIQ7
ENSG00000104313ENST00000493349E5RHZ7
ENSG00000104313ENST00000642391A0A2R8YFS6
ENSG00000104313ENST00000643681A0A2R8Y6K4
ENSG00000104313ENST00000644229A0A2R8YET7
ENSG00000104313ENST00000644712A0A2R8YGM9
ENSG00000104313ENST00000645451A0A2R8YF73
ENSG00000104313ENST00000645793Q99502
ENSG00000104313ENST00000645793A0A024R813
ENSG00000104313ENST00000647540Q99502
ENSG00000104313ENST00000647540A0A024R813

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
DNA Double Strand Break ResponseREACTOMER-HSA-5693606
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaksREACTOMER-HSA-5693565

References

Pubmed IDYearTitleCitations
151410912004SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.119
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
182202872008Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.25
212801472011Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.21
119500622002Impaired interactions between mouse Eyal harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins.20
176378042007Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.18
197893182009Loss of heterozygosity at 2q37 in sporadic Wilms' tumor: putative role for miR-562.18
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18
209565552010Sipl1 and Rbck1 are novel Eya1-binding proteins with a role in craniofacial development.17
180657992008Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations.11

Citation

Dessen P

EYA1 (EYA transcriptional coactivator and phosphatase 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-06-01

Online version: http://atlasgeneticsoncology.org/gene/50940/eya1