ATP6V1C2
ATPase H+ transporting V1 subunit C2
Summary
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A,three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms. [provided by RefSeq, Jul 2008]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1269705114 | 2:10,863,019 | A/G | — | uncertain significance |
| rs147651089 | 2:10,863,065 | C/A | — | uncertain significance |
| rs756508023 | 2:10,863,078 | A/G | — | uncertain significance |
| rs962522809 | 2:10,863,081 | A/C | — | uncertain significance |
| rs115321601 | 2:10,866,654 | C/T | — | benign |
| rs1198872 | 2:10,903,412 | C/T | regulatory region variant | — |
| rs1440992663 | 2:10,904,494 | C/G | — | uncertain significance |
| rs371007689 | 2:10,908,852 | C/T | — | conflicting classifications of pathogenicity |
| rs374696981 | 2:10,908,861 | A/G | — | uncertain significance |
| rs150980575 | 2:10,911,997 | T/C | — | likely pathogenic |
| rs374055141 | 2:10,912,056 | G/A | — | uncertain significance |
| rs6432140 | 2:10,912,664 | G/A | — | benign |
| rs774984939 | 2:10,912,701 | A/C | — | uncertain significance |
| rs149903295 | 2:10,915,145 | A/T | — | uncertain significance |
| rs147194580 | 2:10,915,164 | G/A | — | uncertain significance |
| rs386352282 | 2:10,917,732 | A/G | — | uncertain significance |
| rs763712608 | 2:10,917,763 | A/G | — | uncertain significance |
| rs184895235 | 2:10,917,778 | C/T | — | uncertain significance |
| rs371616422 | 2:10,917,829 | A/T | — | uncertain significance |
| rs747917559 | 2:10,918,705 | T/G | — | uncertain significance |
| rs1285631302 | 2:10,918,788 | G/A | — | uncertain significance |
| rs1310842112 | 2:10,918,791 | C/T | — | uncertain significance |
| rs199523459 | 2:10,918,799 | C/T | — | likely benign |
| rs4668695 | 2:10,920,258 | T/G | — | — |
| rs146854648 | 2:10,922,388 | T/C | — | uncertain significance |
| rs142915630 | 2:10,922,410 | C/T | — | uncertain significance |
| rs765549755 | 2:10,922,413 | A/G | — | uncertain significance |
| rs756619117 | 2:10,923,366 | A/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.