PDZD2
PDZ domain containing 2
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]
Known Variants295 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs538838370 | 5:31,643,724 | A/G | — | — |
| rs2059865 | 5:31,766,433 | T/A | intron variant | — |
| rs184958982 | 5:31,795,122 | C/G | intron variant | — |
| rs116598198 | 5:31,799,371 | G/A | — | benign |
| rs2531386968 | 5:31,799,438 | A/T | — | uncertain significance |
| rs200755574 | 5:31,799,444 | C/G | — | benign |
| rs76324570 | 5:31,799,466 | G/A | — | benign |
| rs747470266 | 5:31,799,479 | C/A | — | uncertain significance |
| rs145138976 | 5:31,799,522 | T/C | — | benign |
| rs200048882 | 5:31,799,547 | C/T | — | benign |
| rs774384119 | 5:31,799,626 | C/T | — | uncertain significance |
| rs756089807 | 5:31,799,647 | G/A | — | uncertain significance |
| rs753717715 | 5:31,799,654 | G/T | — | uncertain significance |
| rs751116233 | 5:31,799,770 | C/T | — | uncertain significance |
| rs1029396347 | 5:31,799,771 | G/A | — | uncertain significance |
| rs11957407 | 5:31,917,242 | G/A | intron variant | — |
| rs7719829 | 5:31,927,317 | A/C | — | — |
| rs72759618 | 5:31,960,846 | G/A | intron variant | — |
| rs10045838 | 5:31,966,417 | G/A | intron variant | — |
| rs146815907 | 5:31,983,263 | A/T | — | likely benign |
| rs368887945 | 5:31,983,317 | G/A | — | uncertain significance |
| rs758864036 | 5:31,983,351 | C/T | — | likely benign |
| rs202231132 | 5:31,983,361 | A/T | — | uncertain significance |
| rs149201593 | 5:31,983,407 | G/A | — | likely benign |
| rs73751750 | 5:31,983,428 | G/A | — | likely benign |
| rs370133322 | 5:31,983,443 | G/A | — | uncertain significance |
| rs34239074 | 5:31,983,460 | C/A | — | benign |
| rs2532101442 | 5:31,983,529 | G/A | — | uncertain significance |
| rs376072858 | 5:31,983,541 | G/A | — | uncertain significance |
| rs760324639 | 5:31,983,565 | G/A | — | uncertain significance |
| rs991493766 | 5:31,983,628 | G/C | — | uncertain significance |
| rs753901868 | 5:31,983,629 | A/C | — | uncertain significance |
| rs778769769 | 5:31,983,640 | G/C | — | uncertain significance |
| rs35992223 | 5:31,983,659 | A/G | — | benign |
| rs760914683 | 5:31,983,698 | A/G | — | uncertain significance |
| rs368272828 | 5:31,983,706 | C/T | — | uncertain significance |
| rs765301321 | 5:31,983,710 | G/A | — | uncertain significance |
| rs141201033 | 5:31,983,732 | G/A | — | likely benign |
| rs192212029 | 5:31,983,741 | A/G | — | likely benign |
| rs1405761568 | 5:31,995,696 | A/C | — | likely benign |
| rs764987516 | 5:32,000,317 | G/C | — | uncertain significance |
| rs756638054 | 5:32,000,342 | G/A | — | uncertain significance |
| rs2477837146 | 5:32,000,343 | C/T | — | uncertain significance |
| rs1751994044 | 5:32,000,352 | T/C | — | uncertain significance |
| rs10054504 | 5:32,000,483 | T/A | — | — |
| rs201628016 | 5:32,003,370 | A/T | — | — |
| rs139951158 | 5:32,010,445 | G/A | — | likely benign |
| rs148515549 | 5:32,010,547 | G/A | — | uncertain significance |
| rs917688820 | 5:32,010,559 | G/A | — | uncertain significance |
| rs138289892 | 5:32,011,135 | C/A | — | — |
| rs1532269 | 5:32,018,841 | C/G | intron variant | — |
| rs1978459 | 5:32,024,804 | G/A | — | — |
| rs151054789 | 5:32,037,337 | A/G | — | uncertain significance |
| rs529949435 | 5:32,037,370 | G/A | — | uncertain significance |
| rs374251139 | 5:32,037,397 | G/A | — | uncertain significance |
| rs775513408 | 5:32,037,430 | C/G | — | uncertain significance |
| rs2478288607 | 5:32,048,646 | G/C | — | likely benign |
| rs776675324 | 5:32,048,650 | G/T | — | uncertain significance |
| rs572845677 | 5:32,048,655 | C/A | — | uncertain significance |
| rs367975237 | 5:32,048,695 | C/T | — | uncertain significance |
| rs1281398888 | 5:32,048,759 | C/T | — | uncertain significance |
| rs1409683684 | 5:32,052,738 | T/G | — | uncertain significance |
| rs756317182 | 5:32,052,790 | G/A | — | uncertain significance |
| rs149253876 | 5:32,053,911 | A/G | — | uncertain significance |
| rs761494456 | 5:32,053,915 | G/A | — | uncertain significance |
| rs10940998 | 5:32,053,922 | G/A | — | likely benign |
| rs147999865 | 5:32,053,937 | C/T | — | likely benign |
| rs1012803020 | 5:32,053,944 | A/G | — | uncertain significance |
| rs982635109 | 5:32,053,959 | T/G | — | uncertain significance |
| rs757483152 | 5:32,053,974 | G/A | — | uncertain significance |
| rs2478368213 | 5:32,058,009 | T/G | — | uncertain significance |
| rs577368144 | 5:32,058,018 | G/A | — | uncertain significance |
| rs368227764 | 5:32,058,054 | C/T | — | uncertain significance |
| rs2478368918 | 5:32,058,059 | C/A | — | uncertain significance |
| rs201167069 | 5:32,058,071 | A/G | — | conflicting classifications of pathogenicity |
| rs142467401 | 5:32,058,079 | C/T | — | likely benign |
| rs771417889 | 5:32,058,080 | G/A | — | uncertain significance |
| rs141828981 | 5:32,058,114 | C/T | — | uncertain significance |
| rs542284593 | 5:32,058,117 | C/T | — | uncertain significance |
| rs34236643 | 5:32,058,127 | C/T | — | likely benign |
| rs749798560 | 5:32,058,128 | G/A | — | uncertain significance |
| rs144128749 | 5:32,058,162 | C/A | — | benign |
| rs754594010 | 5:32,058,170 | C/T | — | uncertain significance |
| rs144760557 | 5:32,058,203 | A/C | — | uncertain significance |
| rs770994566 | 5:32,061,145 | G/A | — | uncertain significance |
| rs150284709 | 5:32,069,709 | G/A | — | uncertain significance |
| rs137951229 | 5:32,069,741 | T/C | — | uncertain significance |
| rs2478467021 | 5:32,069,742 | C/G | — | uncertain significance |
| rs199692055 | 5:32,072,315 | G/T | — | uncertain significance |
| rs375684258 | 5:32,072,385 | G/C | — | uncertain significance |
| rs112339948 | 5:32,072,392 | G/A | — | likely benign |
| rs1005254895 | 5:32,072,421 | C/A | — | uncertain significance |
| rs750726855 | 5:32,073,983 | T/C | — | uncertain significance |
| rs758760825 | 5:32,073,994 | C/T | — | uncertain significance |
| rs140758435 | 5:32,074,062 | G/A | — | likely benign |
| rs201901247 | 5:32,074,108 | G/A | — | likely benign |
| rs61746949 | 5:32,074,149 | A/G | — | benign |
| rs79901850 | 5:32,074,173 | G/A | — | benign |
| rs139754344 | 5:32,074,181 | C/T | — | benign |
| rs775754803 | 5:32,074,182 | G/A | — | likely benign |
Showing 100 of 295 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.