EPHB2 Chromosome 1
EPH receptor B2
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What This Gene Does
This gene encodes a member of the Eph receptor family of receptor tyrosine kinase transmembrane glycoproteins. These receptors are composed of an N-terminal glycosylated ligand-binding domain, a transmembrane region and an intracellular kinase domain. They bind ligands called ephrins and are involved in diverse cellular processes including motility, division, and differentiation. A distinguishing characteristic of Eph-ephrin signaling is that both receptors and ligands are competent to transduce a signaling cascade, resulting in bidirectional signaling. This protein belongs to a subgroup of the Eph receptors called EphB. Proteins of this subgroup are distinguished from other members of the family by sequence homology and preferential binding affinity for membrane-bound ephrin-B ligands. Allelic variants are associated with prostate and brain cancer susceptibility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]
Gene Info
Gene Group
"Sterile alpha motif domain containing|EPH receptors|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
1p36.12
Ensembl
ENSG00000133216
Associated Conditions (4)
Prostate cancer/brain cancer susceptibility
Bleeding disorder
platelet-type
22
Key Variants
RS121912582
Pathogenic
Prostate cancer/brain cancer susceptibility, Prostate cancer/brain cancer susceptibility
Health Risk
RS761749948
Pathogenic
Bleeding disorder, platelet-type, 22
Health Risk
RS76826147
risk factor
Prostate cancer/brain cancer susceptibility, Prostate cancer/brain cancer susceptibility
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121912582 | Health Risk | Pathogenic | Prostate cancer/brain cancer susceptibility, Prostate cancer/brain cancer susceptibility |
| RS761749948 | Health Risk | Pathogenic | Bleeding disorder, platelet-type, 22 |
| RS76826147 | Health Risk | risk factor | Prostate cancer/brain cancer susceptibility, Prostate cancer/brain cancer susceptibility |