• Gene id: 245973

Gene Summary

• Gene Symbol: ATP6V1C2   Gene   UCSC   Ensembl
• Aliases: ATP6C2, VMA5
• Gene name: ATPase H+ transporting V1 subunit C2
• Alternate names: V-type proton ATPase subunit C 2, ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2, V-ATPase C2 subunit, vacuolar proton pump subunit C 2,
• Gene location: 2p25.1 (10720972: 10785109)     Exons: 18     NC_000002.12
• Gene summary(Entrez): This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sort
• OMIM: 616877

Protein Summary

• Protein general information: Q8NEY4  
  • Name: V type proton ATPase subunit C 2 (V ATPase subunit C 2) (Vacuolar proton pump subunit C 2)
  • Length: 427  
  • Mass: 48759
  • Tissue specificity: Kidney and placenta. {ECO
• Sequence:

  MSEFWLISAPGDKENLQALERMNTVTSKSNLSYNTKFAIPDFKVGTLDSLVGLSDELGKLDTFAESLIRRMAQSV
  VEVMEDSKGKVQEHLLANGVDLTSFVTHFEWDMAKYPVKQPLVSVVDTIAKQLAQIEMDLKSRTAAYNTLKTNLE
  NLEKKSMGNLFTRTLSDIVSKEDFVLDSEYLVTLLVIVPKPNYSQWQKTYESLSDMVVPRSTKLITEDKEGGLFT
  VTLFRKVIEDFKTKAKENKFTVREFYYDEKEIEREREEMARLLSDKKQQYQTSCVALKKGSSTFPDHKVKVTPLG
  NPDRPAAGQTDRERESEGEGEGPLLRWLKVNFSEAFIAWIHIKALRVFVESVLRYGLPVNFQAVLLQPHKKSSTK
  RLREVLNSVFRHLDEVAATSILDASVEIPGLQLNNQDYFPYVYFHIDLSLLD

• Structural information:
  • Interpro: IPR004907  IPR036132  
  • CDD: cd14785
  • STRING: ENSP00000272238
• Other Databases: GeneCards:  ATP6V1C2  Malacards:  ATP6V1C2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016241	regulation of macroautophagy	NAS	biological process
GO:0046961	proton-transporting ATPase activity, rotational mechanism	IBA	molecular function
GO:0008553	proton-exporting ATPase activity, phosphorylative mechanism	IBA	molecular function
GO:0000221	vacuolar proton-transporting V-type ATPase, V1 domain	IBA	cellular component
GO:0033180	proton-transporting V-type ATPase, V1 domain	IEA	cellular component
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0015078	proton transmembrane transporter activity	IEA	molecular function
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:0008553	proton-exporting ATPase activity, phosphorylative mechanism	IEA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0030177	positive regulation of Wnt signaling pathway	IMP	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005765	lysosomal membrane	HDA	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
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq