| Entrez Gene ID | 25930 |
|---|---|
| Official Gene Symbol | PTPN23 (GeneCards) |
| Full name | protein tyrosine phosphatase, non-receptor type 23 |
| Location | 3p21.31 |
| Other ids | Vega : OTTHUMG00000133520 MIM : 606584 HGNC : HGNC:14406 Ensembl : ENSG00000076201 |
| Other names | HDPTP, HD-PTP, PTP-TD14 |
| Summary | This gene encodes a member of the non-receptor type protein-tyrosine phosphatase family. The encoded protein may be involved in the regulation of small nuclear ribonucleo protein assembly and pre-mRNA splicing by modifying the survival motor neuron (SMN) complex. The encoded protein additionally plays a role in ciliogenesis and is part of endosomal sorting complex required for transport (ESCRT) pathways. This gene may serve a tumor suppressor function. [provided by RefSeq, Jul 2016] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29165 | 25930 | PTPN23 | 3 | 47437547 | 47437547 | Autism Spectrum Disorders | PASM |