| Entrez Gene ID | 23037 |
|---|---|
| Official Gene Symbol | PDZD2 (GeneCards) |
| Full name | PDZ domain containing 2 |
| Location | 5p13.3 |
| Other ids | Vega : OTTHUMG00000161981 MIM : 610697 HGNC : HGNC:18486 Ensembl : ENSG00000133401 |
| Other names | AIPC, PIN1, PAPIN, PDZK3 |
| Summary | The protein encoded by this gene contains six PDZ domains and shares sequence similarity with pro-interleukin-16 (pro-IL-16). Like pro-IL-16, the encoded protein localizes to the endoplasmic reticulum and is thought to be cleaved by a caspase to produce a secreted peptide containing two PDZ domains. In addition, this gene is upregulated in primary prostate tumors and may be involved in the early stages of prostate tumorigenesis. [provided by RefSeq, Dec 2015] |
Found 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 8031 | 23037 | PDZD2 | 5 | 32035489 | 32035489 | Asymptomatic | HiSeq X Ten |
| 8760 | 23037 | PDZD2 | 5 | 31998323 | 31998323 | Cockayne syndrome | HiSeq X Ten |
| 29769 | 23037 | PDZD2 | 5 | 32074487 | 32074487 | Autism Spectrum Disorders | HiSeq X Ten NextSeq500 |