1. Gene
  2. ATP6V1G2 - ATPase H+ transporting V1 subunit G2 Gene

ATP6V1G2 - ATPase H+ transporting V1 subunit G2 Gene

Homo sapiens

Also known as NG38; ATP6G; VMA10; ATP6G2

Gene ID: 534 | Gene type: protein coding

About ATP6V1G2

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:31,544,444-31,546,742 (from NCBI)

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

ATP6V1G2 Protein Structure

V-ATPase_G

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

ATPase, H+ transporting, lysosomal (vacuolar proton pump)

Related Diseases

Diseases Alias
Noonan Syndrome 9

NS9

Noonan Syndrome, Type 9

Distal Renal Tubular Acidosis

Classic Rta

Familial Distal Primary Acidosis

Renal Tubular Acidosis Type 1

Drta

Renal Tubular Acidosis, Distal

Noonan Syndrome 3

NS3

Noonan Syndrome, Type 3

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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