| Entrez Gene ID | 154810 |
|---|---|
| Official Gene Symbol | AMOTL1 (GeneCards) |
| Full name | angiomotin like 1 |
| Location | 11q21 |
| Other ids | Vega : OTTHUMG00000167828 MIM : 614657 HGNC : HGNC:17811 Ensembl : ENSG00000166025 |
| Other names | JEAP |
| Summary | The protein encoded by this gene is a peripheral membrane protein that is a component of tight junctions or TJs. TJs form an apical junctional structure and act to control paracellular permeability and maintain cell polarity. This protein is related to angiomotin, an angiostatin binding protein that regulates endothelial cell migration and capillary formation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 15611 | 154810 | AMOTL1 | 11 | 94666166 | 94666166 | Asymptomatic | HiSeq X Ten |
| 29322 | 154810 | AMOTL1 | 11 | 94603879 | 94603879 | Autism Spectrum Disorders | HiSeq X Ten PASM |