| Entrez Gene ID | 57664 |
|---|---|
| Official Gene Symbol | PLEKHA4 (GeneCards) |
| Full name | pleckstrin homology domain containing A4 |
| Location | 19q13.33 |
| Other ids | Vega : OTTHUMG00000183329 MIM : 607769 HGNC : HGNC:14339 Ensembl : ENSG00000105559 |
| Other names | PEPP1 |
| Summary | This gene encodes a pleckstrin homology (PH) domain-containing protein. The PH domain is found near the N-terminus and contains a putative phosphatidylinositol 3, 4, 5-triphosphate-binding motif (PPBM). Elevated expression of this gene has been observed in some melanomas. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29609 | 57664 | PLEKHA4 | 19 | 49341342 | 49341342 | Autism Spectrum Disorders | MiSeq |