| Entrez Gene ID | 2042 |
|---|---|
| Official Gene Symbol | EPHA3 (GeneCards) |
| Full name | EPH receptor A3 |
| Location | 3p11.1 |
| Other ids | Vega : OTTHUMG00000159040 MIM : 179611 HGNC : HGNC:3387 Ensembl : ENSG00000044524 |
| Other names | EK4, ETK, HEK, ETK1, HEK4, TYRO4 |
| Summary | 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. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008] |
Found 13 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 816 | 2042 | EPHA3 | 3 | 89391000 | 89391000 | Human Skin Fibroblasts | HiSeq 2500 |
| 4670 | 2042 | EPHA3 | 3 | 89749155 | 89749155 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 5353 | 2042 | EPHA3 | 3 | 89522938 | 89522938 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 5568 | 2042 | EPHA3 | 3 | 89313934 | 89313934 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 5747 | 2042 | EPHA3 | 3 | 89781195 | 89781195 | Cockayne syndrome | HiSeq 2500 HiSeq X Ten |
| 5921 | 2042 | EPHA3 | 3 | 89377890 | 89377890 | Xeroderma Pigmentosum | HiSeq 2500 HiSeq X Ten |
| 25121 | 2042 | EPHA3 | 3 | 89758895 | 89758895 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
| 25122 | 2042 | EPHA3 | 3 | 90264327 | 90264327 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
| 25229 | 2042 | EPHA3 | 3 | 89388999 | 89388999 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
| 25252 | 2042 | EPHA3 | 3 | 89388999 | 89388999 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
| 25270 | 2042 | EPHA3 | 3 | 89349771 | 89349771 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
| 25305 | 2042 | EPHA3 | 3 | 89698673 | 89698673 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
| 25367 | 2042 | EPHA3 | 3 | 90434113 | 90434113 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |