Entrez Gene ID | 2047 |
---|---|
Official Gene Symbol | EPHB1 (GeneCards) |
Full name | EPH receptor B1 |
Location | 3q22.2 |
Other ids | Vega : OTTHUMG00000159804 MIM : 600600 HGNC : HGNC:3392 Ensembl : ENSG00000154928 |
Other names | ELK, NET, Hek6, EPHT2 |
Summary | Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of 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. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members. [provided by RefSeq, Jul 2008] |
Found 13 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
783 | 2047 | EPHB1 | 3 | 134911642 | 134911642 | Human Skin Fibroblasts | HiSeq 2500 |
784 | 2047 | EPHB1 | 3 | 134911643 | 134911643 | Human Skin Fibroblasts | HiSeq 2500 |
4727 | 2047 | EPHB1 | 3 | 135242178 | 135242178 | Asymptomatic | HiSeq 2500 HiSeq 2000 |
4794 | 2047 | EPHB1 | 3 | 134684332 | 134684332 | Asymptomatic | HiSeq 2500 HiSeq 2000 HiSeq X Ten |
4875 | 2047 | EPHB1 | 3 | 135502582 | 135502582 | Asymptomatic | HiSeq 2500 HiSeq 2000 HiSeq X Ten |
5100 | 2047 | EPHB1 | 3 | 135536414 | 135536414 | Asymptomatic | HiSeq 2500 HiSeq 2000 HiSeq X Ten |
5146 | 2047 | EPHB1 | 3 | 135509948 | 135509948 | Asymptomatic | HiSeq 2500 HiSeq 2000 HiSeq X Ten |
5147 | 2047 | EPHB1 | 3 | 135675783 | 135675783 | Asymptomatic | HiSeq 2500 HiSeq 2000 HiSeq X Ten |
5205 | 2047 | EPHB1 | 3 | 134695592 | 134695592 | HiSeq 2500 HiSeq 2000 HiSeq X Ten | |
5461 | 2047 | EPHB1 | 3 | 135079270 | 135079270 | Asymptomatic | HiSeq 2500 HiSeq 2000 HiSeq X Ten |
5462 | 2047 | EPHB1 | 3 | 135276100 | 135276100 | Asymptomatic | HiSeq 2500 HiSeq 2000 HiSeq X Ten |
5506 | 2047 | EPHB1 | 3 | 135049144 | 135049144 | Asymptomatic | HiSeq 2500 HiSeq 2000 HiSeq X Ten |
25313 | 2047 | EPHB1 | 3 | 135522965 | 135522965 | Asymptomatic | HiSeq 2500 HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning |