• Gene id: 534

Gene Summary

• Gene Symbol: ATP6V1G2   Gene   UCSC   Ensembl
• Aliases: ATP6G, ATP6G2, NG38, VMA10
• Gene name: ATPase H+ transporting V1 subunit G2
• Alternate names: V-type proton ATPase subunit G 2, ATPase, H+ transporting, lysosomal (vacuolar proton pump), ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2, H(+)-transporting two-sector ATPase, subunit G2, V-ATPase 13 kDa subunit 2, vacuolar ATP synthase subunit G 2, ,
• Gene location: 6p21.33 (63038805: 63015078)     Exons: 10     NC_000008.11
• Gene summary(Entrez): 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 sor
• OMIM: 606853

SNPs

rs12676

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.53823776A>C
NC_000003.12   g.53823776A>T
NC_000003.11   g.53857803A>C
NC_000003.11   g.53857803A>T
NG_028042.1   g.27618T>G
NG_028042.1   g.27618T>A
NM_018397.5   c.233T>G
NM_018397.5   c.233T>A
NM_018397.4   c.233T>G
NM_018397.4   c.233T>A
XM_006713251  

rs3779456

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.27174938T>C
NC_000007.13   g.27214557T>C|SEQ=[T/C]|GENE=HOXA10
HOXA10-HOXA9   100534589

Protein Summary

• Protein general information: O95670  
  • Name: V type proton ATPase subunit G 2 (V ATPase subunit G 2) (V ATPase 13 kDa subunit 2) (Vacuolar proton pump subunit G 2)
  • Length: 118  
  • Mass: 13604
  • Tissue specificity: Brain. {ECO
• Sequence:

  MASQSQGIQQLLQAEKRAAEKVADARKRKARRLKQAKEEAQMEVEQYRREREHEFQSKQQAAMGSQGNLSAEVEQ
  ATRRQVQGMQSSQQRNRERVLAQLLGMVCDVRPQVHPNYRISA

• Structural information:
  • Interpro: IPR005124  
  • STRING: ENSP00000302194
• Other Databases: GeneCards:  ATP6V1G2  Malacards:  ATP6V1G2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016241	regulation of macroautophagy	NAS	biological process
GO:0016471	vacuolar proton-transporting V-type ATPase complex	IBA	cellular component
GO:0008553	proton-exporting ATPase activity, phosphorylative mechanism	IBA	molecular function
GO:0016471	vacuolar proton-transporting V-type ATPase complex	IEA	cellular component
GO:0042626	ATPase-coupled transmembrane transporter activity	IEA	molecular function
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0090383	phagosome acidification	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0008286	insulin receptor signaling pathway	TAS	biological process
GO:0033572	transferrin transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030285	integral component of synaptic vesicle membrane	IEA	cellular component
GO:0016471	vacuolar proton-transporting V-type ATPase complex	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0008553	proton-exporting ATPase activity, phosphorylative mechanism	IEA	molecular function
GO:0042470	melanosome	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05165	Human papillomavirus infection
hsa04150	mTOR signaling pathway
hsa00190	Oxidative phosphorylation
hsa04145	Phagosome
hsa04721	Synaptic vesicle cycle
hsa05323	Rheumatoid arthritis
hsa05120	Epithelial cell signaling in Helicobacter pylori infection
hsa05110	Vibrio cholerae infection
hsa04966	Collecting duct acid secretion

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)