ATP6V1G2 - ATPase H+ transporting V1 subunit G2 Gene
Also Known as NG38; ATP6G; VMA10; ATP6G2
Species: Homo sapiens
About ATP6V1G2
This gene has 6 transcripts (splice variants), 1 gene allele, 108 orthologues and 2 paralogues. Biased expression in brain (RPKM 100.0) and adrenal (RPKM 3.8).
Summary
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent 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 and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of three V1 domain G subunit proteins. This gene had previous gene symbols of ATP6G and ATP6G2. Alternatively spliced transcript variants encoding different isoforms have been described. Read-through transcription also exists between this gene and the downstream DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B) gene. [provided by RefSeq, Feb 2011]
ATP6V1G2 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001204078.2 | NP_001191007.1 | V-type proton ATPase subunit G 2 isoform c |
| NM_130463.4 | NP_569730.1 | V-type proton ATPase subunit G 2 isoform a |
| NM_138282.3 | NP_612139.1 | V-type proton ATPase subunit G 2 isoform b |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32296183 | GOA |
ATP6V1G2 Protein Structure
V-ATPase_G: Vacuolar (H+)-ATPase G subunit (3 - 106)
- 0
- 100
- 118 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
V-type proton ATPase subunit G 2 |
|
ATP6V1G2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
ATP6V1G2 | O95670 | ATP6V1E2 | Homo sapiens | Q96A05 | 32296183 | |
|
Intra
|
ATP6V1G2 | O95670 | ATP6V1E2 | Homo sapiens | Q96A05 | 32296183 | |
|
Intra
|
ATP6V1G2 | O95670 | ATP6V1E2 | Homo sapiens | Q96A05 | 32296183 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Noonan Syndrome 9 |
|
|
| Distal Renal Tubular Acidosis |
|
|
| Noonan Syndrome 3 |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | ATP6V1G2 | RGD | RGD:1303186 |
| Felis catus | ATP6V1G2 | VGNC | VGNC:102384 |
| Mus musculus | ATP6V1G2 | MGD | MGI:1913487 |
| Bos taurus | ATP6V1G2 | VGNC | VGNC:57164 |
| Canis familiaris | ATP6V1G2 | VGNC | VGNC:52107 |
| Others | ATP6V1G2 | NCBI |