NAALAD2
N-acetylated alpha-linked acidic dipeptidase 2
Summary
This gene is a member of the N-acetylated alpha-linked acidic dipeptidase (NAALADase) gene family. The representative member of this family is the gene encoding human prostate-specific membrane antigen (PSM), which is a marker of prostatic carcinomas and is the first to be shown to possess NAALADase activity. NAALADase cleaves N-acetyl-L-aspartate-L-glutamate (NAAG), which is a neuropeptide expressed both in the central nervous systems and in the periphery and is thought to function as a neurotransmitter. The product of this gene is a type II integral membrane protein. Transient transfection of this gene confers both NAALADase and dipetidyl peptidase IV activities to mammalian cells. This gene is highly expressed in ovary and testis as well as within discrete brain areas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Known Variants48 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs539291395 | 11:89,867,690 | G/A | — | — |
| rs982322056 | 11:89,867,952 | A/G | — | uncertain significance |
| rs765151836 | 11:89,868,768 | C/T | — | uncertain significance |
| rs200321976 | 11:89,868,769 | G/A | — | uncertain significance |
| rs755610436 | 11:89,868,787 | G/A | — | uncertain significance |
| rs765205277 | 11:89,868,829 | C/T | — | uncertain significance |
| rs11018874 | 11:89,875,437 | G/A | intron variant | — |
| rs7931448 | 11:89,875,498 | G/C | intron variant | — |
| rs201982078 | 11:89,880,581 | T/C | — | uncertain significance |
| rs995806209 | 11:89,880,632 | C/A | — | uncertain significance |
| rs1951774595 | 11:89,880,653 | A/C | — | uncertain significance |
| rs760348318 | 11:89,880,659 | C/T | — | uncertain significance |
| rs2495869608 | 11:89,880,664 | G/A | — | uncertain significance |
| rs2186749 | 11:89,880,874 | A/T | intron variant | — |
| rs374082301 | 11:89,882,211 | G/A | — | uncertain significance |
| rs777843793 | 11:89,882,228 | A/T | — | uncertain significance |
| rs1247111131 | 11:89,882,265 | G/A | — | uncertain significance |
| rs773732566 | 11:89,883,653 | G/C | — | uncertain significance |
| rs776929698 | 11:89,883,678 | G/A | — | uncertain significance |
| rs751517010 | 11:89,883,714 | G/A | — | uncertain significance |
| rs1951910122 | 11:89,885,476 | C/T | — | uncertain significance |
| rs775929591 | 11:89,885,495 | A/G | — | uncertain significance |
| rs776061921 | 11:89,885,521 | C/A | — | uncertain significance |
| rs2495907492 | 11:89,885,580 | G/A | — | uncertain significance |
| rs376610638 | 11:89,891,339 | G/C | — | uncertain significance |
| rs200163147 | 11:89,891,354 | C/T | — | uncertain significance |
| rs138601382 | 11:89,891,405 | C/T | — | uncertain significance |
| rs765763172 | 11:89,892,474 | G/A | — | uncertain significance |
| rs774792618 | 11:89,896,167 | A/G | — | uncertain significance |
| rs753902104 | 11:89,896,190 | T/C | — | uncertain significance |
| rs1439742455 | 11:89,896,574 | G/A | — | uncertain significance |
| rs149945009 | 11:89,896,777 | T/C | — | uncertain significance |
| rs2496041550 | 11:89,902,102 | T/A | — | uncertain significance |
| rs542826169 | 11:89,902,107 | A/G | — | uncertain significance |
| rs374266689 | 11:89,902,118 | G/A | — | uncertain significance |
| rs2496050342 | 11:89,903,266 | C/T | — | uncertain significance |
| rs201787529 | 11:89,911,196 | A/G | — | uncertain significance |
| rs746190345 | 11:89,911,228 | A/G | — | uncertain significance |
| rs2496120267 | 11:89,914,842 | A/G | — | likely benign |
| rs141848412 | 11:89,914,851 | T/C | — | likely benign |
| rs763226675 | 11:89,916,131 | G/T | — | uncertain significance |
| rs150623641 | 11:89,916,141 | C/T | — | likely benign |
| rs757321481 | 11:89,916,146 | C/T | — | uncertain significance |
| rs143530630 | 11:89,924,790 | G/A | — | uncertain significance |
| rs759259286 | 11:89,924,801 | T/A | — | uncertain significance |
| rs146722371 | 11:89,924,806 | T/C | — | uncertain significance |
| rs1308598775 | 11:89,924,839 | A/G | — | uncertain significance |
| rs2496170256 | 11:89,924,911 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.