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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATP6V1G2 Protein Structure

V-ATPase_G

0
100
118 a.a.

Protein Preferred Names

Protein Names

V-type proton ATPase subunit G 2

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

ATP6V1G2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ATP6V1G2	O95670	ATP6V1E2	Homo sapiens	Q96A05	Y2H Prey Pooling	32296183
Intra	ATP6V1G2	O95670	ATP6V1E2	Homo sapiens	Q96A05	Y2H Array	32296183
Intra	ATP6V1G2	O95670	ATP6V1E2	Homo sapiens	Q96A05	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01232	ATP6V1G2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

Name
Email *

	Sorry, but the email address you supplied was invalid.