EPHA2 Chromosome 1
EPH receptor A2
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What This Gene Does
This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Mutations in this gene are the cause of certain genetically-related cataract disorders.[provided by RefSeq, May 2010]
Gene Info
Gene Group
"Sterile alpha motif domain containing|EPH receptors"
Locus Type
gene with protein product
Location
1p36.13
Ensembl
ENSG00000142627
Associated Conditions (15)
Cataract 6
age-related cortical
Cataract 6 multiple types
EPHA2-related disorder
Meniere disease
Inborn genetic diseases
Colon adenocarcinoma
Ovarian serous cystadenocarcinoma
Papillary renal cell carcinoma type 1
Melanoma
Cholangiocarcinoma
Clear cell carcinoma of kidney
Congenital aniridia
Cataract
Bilateral microphthalmos
Key Variants
RS116506614
Conflicting classifications of pathogenicity
Cataract 6, age-related cortical, Cataract 6 multiple types
Health Risk
RS138818894
Conflicting classifications of pathogenicity
Cataract 6 multiple types, EPHA2-related disorder, Cataract 6 multiple types
Health Risk
RS139787163
Conflicting classifications of pathogenicity
Cataract 6 multiple types, EPHA2-related disorder, Cataract 6 multiple types
Health Risk
RS143828420
Conflicting classifications of pathogenicity
Cataract 6 multiple types, EPHA2-related disorder, Inborn genetic diseases
Health Risk
RS144342633
Conflicting classifications of pathogenicity
Cataract 6 multiple types, EPHA2-related disorder, Cataract 6 multiple types
Health Risk
RS145592908
Conflicting classifications of pathogenicity
Cataract 6 multiple types, Cataract 6 multiple types
Health Risk
RS145962326
Conflicting classifications of pathogenicity
Cataract 6 multiple types, Inborn genetic diseases, Cataract 6 multiple types
Health Risk
RS147352564
Conflicting classifications of pathogenicity
Cataract 6 multiple types, Inborn genetic diseases, Cataract 6 multiple types
Health Risk
RS150335679
Conflicting classifications of pathogenicity
EPHA2-related disorder, Colon adenocarcinoma, Ovarian serous cystadenocarcinoma
Health Risk
RS200490325
Conflicting classifications of pathogenicity
Cataract 6 multiple types, Cataract 6 multiple types
Health Risk
RS200836253
Conflicting classifications of pathogenicity
Cataract 6 multiple types, Cataract 6 multiple types
Health Risk
RS201325716
Conflicting classifications of pathogenicity
Cataract 6 multiple types, Cataract 6 multiple types
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116506614 | Health Risk | Conflicting classifications of pathogenicity | Cataract 6, age-related cortical, Cataract 6 multiple types |
| RS138818894 | Health Risk | Conflicting classifications of pathogenicity | Cataract 6 multiple types, EPHA2-related disorder, Cataract 6 multiple types |
| RS139787163 | Health Risk | Conflicting classifications of pathogenicity | Cataract 6 multiple types, EPHA2-related disorder, Cataract 6 multiple types |
| RS143828420 | Health Risk | Conflicting classifications of pathogenicity | Cataract 6 multiple types, EPHA2-related disorder, Inborn genetic diseases |
| RS144342633 | Health Risk | Conflicting classifications of pathogenicity | Cataract 6 multiple types, EPHA2-related disorder, Cataract 6 multiple types |
| RS145592908 | Health Risk | Conflicting classifications of pathogenicity | Cataract 6 multiple types, Cataract 6 multiple types |
| RS145962326 | Health Risk | Conflicting classifications of pathogenicity | Cataract 6 multiple types, Inborn genetic diseases, Cataract 6 multiple types |
| RS147352564 | Health Risk | Conflicting classifications of pathogenicity | Cataract 6 multiple types, Inborn genetic diseases, Cataract 6 multiple types |
| RS150335679 | Health Risk | Conflicting classifications of pathogenicity | EPHA2-related disorder, Colon adenocarcinoma, Ovarian serous cystadenocarcinoma |
| RS200490325 | Health Risk | Conflicting classifications of pathogenicity | Cataract 6 multiple types, Cataract 6 multiple types |
| RS200836253 | Health Risk | Conflicting classifications of pathogenicity | Cataract 6 multiple types, Cataract 6 multiple types |
| RS201325716 | Health Risk | Conflicting classifications of pathogenicity | Cataract 6 multiple types, Cataract 6 multiple types |
| RS369180720 | Health Risk | Conflicting classifications of pathogenicity | Cataract 6 multiple types, EPHA2-related disorder, Cataract 6 multiple types |
| RS376402047 | Health Risk | Conflicting classifications of pathogenicity | Cataract 6 multiple types, Cataract 6 multiple types |
| RS376803353 | Health Risk | Conflicting classifications of pathogenicity | Cataract 6 multiple types, Cataract 6 multiple types |
| RS1570403798 | Health Risk | Likely pathogenic | Cataract 6 multiple types, Cataract 6 multiple types |
| RS2524522657 | Health Risk | Likely pathogenic | EPHA2-related disorder, EPHA2-related disorder |
| RS766078852 | Health Risk | Likely pathogenic | Cataract 6 multiple types, Cataract 6 multiple types |
| RS786205441 | Health Risk | Likely pathogenic | — |
| RS137853199 | Health Risk | Pathogenic | Cataract 6 multiple types, Cataract 6 multiple types |
| RS137853200 | Health Risk | Pathogenic | Cataract 6 multiple types, Cataract 6 multiple types |
| RS1569602837 | Health Risk | Pathogenic | Cataract 6 multiple types, Cataract 6 multiple types |
| RS2024441691 | Health Risk | Pathogenic | Cataract 6 multiple types, Cataract 6 multiple types |
| RS2024442390 | Health Risk | Pathogenic | — |
| RS2124192639 | Health Risk | Pathogenic | Cataract 6 multiple types, Cataract 6 multiple types |
| RS2124283411 | Health Risk | Pathogenic | Congenital aniridia, Cataract, Bilateral microphthalmos |
| RS2524538503 | Health Risk | Pathogenic | Cataract 6 multiple types, Cataract 6 multiple types |
| RS2524547709 | Health Risk | Pathogenic | Cataract 6 multiple types, Cataract 6 multiple types |
| RS757313469 | Health Risk | Pathogenic | Cataract 6 multiple types, EPHA2-related disorder, Cataract 6 multiple types |
| RS886041412 | Health Risk | Pathogenic | Cataract 6 multiple types, Inborn genetic diseases, Cataract 6 multiple types |