ATP6V1G2 (ATPase H+ transporting V1 subunit G2)

2014-11-01  

Identity

HGNC
LOCATION
6p21.33
LOCUSID
ALIAS
ATP6G,ATP6G2,NG38,VMA10

Other Information

Locus ID:

NCBI: 534
MIM: 606853
HGNC: 862
Ensembl: ENSG00000213760

Variants:

dbSNP: 534
ClinVar: 534
TCGA: ENSG00000213760
COSMIC: ATP6V1G2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000213760ENST00000303892O95670
ENSG00000213760ENST00000376151O95670
ENSG00000213760ENST00000415099H0Y474
ENSG00000213760ENST00000483251O95670

Expression (GTEx)

0
500
1000
1500

Pathways

PathwaySourceExternal ID
Oxidative phosphorylationKEGGko00190
mTOR signaling pathwayKEGGko04150
Vibrio cholerae infectionKEGGko05110
Epithelial cell signaling in Helicobacter pylori infectionKEGGko05120
Oxidative phosphorylationKEGGhsa00190
mTOR signaling pathwayKEGGhsa04150
Vibrio cholerae infectionKEGGhsa05110
Epithelial cell signaling in Helicobacter pylori infectionKEGGhsa05120
Metabolic pathwaysKEGGhsa01100
Collecting duct acid secretionKEGGko04966
Collecting duct acid secretionKEGGhsa04966
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Rheumatoid arthritisKEGGko05323
Rheumatoid arthritisKEGGhsa05323
Synaptic vesicle cycleKEGGko04721
Synaptic vesicle cycleKEGGhsa04721
V-type ATPase, eukaryotesKEGGhsa_M00160
V-type ATPase, eukaryotesKEGGM00160
ROS, RNS production in phagocytesREACTOMER-HSA-1222556
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Signal TransductionREACTOMER-HSA-162582
Signaling by Insulin receptorREACTOMER-HSA-74752
Insulin receptor recyclingREACTOMER-HSA-77387
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Iron uptake and transportREACTOMER-HSA-917937
Transferrin endocytosis and recyclingREACTOMER-HSA-917977
Ion channel transportREACTOMER-HSA-983712

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.51
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
208548632010Characterization of tumor necrosis factor-α block haplotypes associated with susceptibility to chronic venous leg ulcers in Caucasian patients.1

Citation

Dessen P

ATP6V1G2 (ATPase H+ transporting V1 subunit G2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60648/atp6v1g2