ARG2
arginase 2
Summary
Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exists (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type II isoform encoded by this gene, is located in the mitochondria and expressed in extra-hepatic tissues, especially kidney. The physiologic role of this isoform is poorly understood; it is thought to play a role in nitric oxide and polyamine metabolism. Transcript variants of the type II gene resulting from the use of alternative polyadenylation sites have been described. [provided by RefSeq, Jul 2008]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs371082332 | 14:68,086,699 | C/A | — | uncertain significance |
| rs143988405 | 14:68,086,704 | A/T | — | likely benign |
| rs925334489 | 14:68,086,712 | C/G | — | uncertain significance |
| rs143687219 | 14:68,086,802 | G/A | — | benign |
| rs763512011 | 14:68,087,670 | G/C | — | uncertain significance |
| rs12433361 | 14:68,095,066 | A/T | intron variant | — |
| rs765220457 | 14:68,108,927 | A/G | — | uncertain significance |
| rs374495866 | 14:68,109,022 | G/A | — | uncertain significance |
| rs780686719 | 14:68,109,033 | A/T | — | uncertain significance |
| rs377757447 | 14:68,109,034 | G/C | — | uncertain significance |
| rs755657562 | 14:68,112,364 | G/A | — | uncertain significance |
| rs151039935 | 14:68,112,392 | G/A | — | uncertain significance |
| rs2503453598 | 14:68,112,457 | A/C | — | uncertain significance |
| rs773405238 | 14:68,112,484 | C/A | — | uncertain significance |
| rs2503453784 | 14:68,112,505 | G/C | — | uncertain significance |
| rs915702629 | 14:68,113,361 | G/A | — | uncertain significance |
| rs376978713 | 14:68,113,366 | A/G | — | likely benign |
| rs149852076 | 14:68,113,379 | T/C | — | uncertain significance |
| rs753154059 | 14:68,113,398 | G/A | — | uncertain significance |
| rs199828283 | 14:68,113,409 | G/T | — | uncertain significance |
| rs1566806242 | 14:68,113,693 | C/G | — | uncertain significance |
| rs769482292 | 14:68,113,696 | G/T | — | uncertain significance |
| rs778789921 | 14:68,114,768 | C/A | — | uncertain significance |
| rs45584632 | 14:68,117,496 | G/A | — | likely benign |
| rs754563616 | 14:68,117,528 | T/C | — | uncertain significance |
| rs749813786 | 14:68,117,546 | A/G | — | uncertain significance |
| rs375587822 | 14:68,117,560 | G/A | — | uncertain significance |
| rs768729907 | 14:68,117,590 | C/T | — | uncertain significance |
| rs141779491 | 14:68,117,605 | G/A | — | uncertain significance |
| rs762859411 | 14:68,117,624 | G/A | — | uncertain significance |
| rs200608161 | 14:68,117,626 | G/T | — | uncertain significance |
| rs15493 | 14:68,118,132 | C/G | synonymous variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.