AlphaFold predicted structure
EPHA2 · P29317
Mean pLDDT
82.3/ 100
Confident
976 residues
Confidence breakdown
- Very high(≥ 90)47%
- Confident(70–90)37%
- Low(50–70)8%
- Very low(< 50)9%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
EPHA2
Chr 1p36.13EPH receptor A2
- MANE:
- ENST00000358432.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Bilateral congenital or childhood onset cataracts
BOTH monoallelic and biallelic, autosomal or pseudoautosomalStructural eye disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Disease associations (Open Targets)
Posterior polar cataract
0.77Total congenital cataract
0.77early-onset non-syndromic cataract
0.68colorectal cancer
0.59chronic myelogenous leukemia, BCR-ABL1 positive
0.58neurodegenerative disease
0.56acute lymphoblastic leukemia
0.54medullary thyroid gland carcinoma
0.54neoplasm
0.54cataract
0.47
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Ephrin type-A receptor 2
Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Activated by the ligand ephrin-A1/EFNA1 regulates migration, integrin-mediated adhesion, proliferation and differentiation of cells. Regulates cell adhesion and differentiation through DSG1/desmoglein-1 and inhibition of the ERK1/ERK2 (MAPK3/MAPK1, respectively) signaling pathway. May also participate in UV radiation-induced apoptosis and have a ligand-independent stimulatory effect on chemotactic cell migration. During development, may function in distinctive aspects of pattern formation and subsequently in development of several fetal tissues. Involved for instance in angiogenesis, in early hindbrain development and epithelial proliferation and branching morphogenesis during mammary gland development. Engaged by the ligand ephrin-A5/EFNA5 may regulate lens fiber cells shape and interactions and be important for lens transparency development and maintenance. With ephrin-A2/EFNA2 may play a role in bone remodeling through regulation of osteoclastogenesis and osteoblastogenesis
Diseases associated with EPHA2
Curated MONDO disease pages that list EPHA2 among their top associated genes.