ATP6V1C2

V-type proton ATPase subunit C 2 is an enzyme that in humans is encoded by the ATP6V1C2 gene.[5][6]

ATP6V1C2
Identifiers
Aliases	ATP6V1C2, ATP6C2, VMA5, ATPase H+ transporting V1 subunit C2
External IDs	OMIM: 618070 MGI: 1916025 HomoloGene: 15866 GeneCards: ATP6V1C2
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p25.1 Start 10,721,100 bp[1] End 10,785,110 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 A1.1 Start 17,334,722 bp[2] End 17,379,360 bp[2]
RNA expression pattern Bgee Top expressed in zone of skin salivary gland pituitary gland anterior pituitary renal cortex minor salivary gland More reference expression data BioGPS n/a
Gene ontology Molecular function GO:0001948 protein binding protein dimerization activity proton transmembrane transporter activity GO:0036442 P-type proton-exporting transporter activity proton-transporting ATPase activity, rotational mechanism Cellular component proton-transporting V-type ATPase, V1 domain lysosomal membrane cytosol extracellular exosome vacuolar proton-transporting V-type ATPase, V1 domain Biological process positive regulation of Wnt signaling pathway insulin receptor signaling pathway ion transmembrane transport ion transport transferrin transport regulation of macroautophagy phagosome acidification transport Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	245973	68775
Ensembl	ENSG00000143882	ENSMUSG00000020566
UniProt	Q8NEY4	Q99L60
RefSeq (mRNA)	NM_001039362 NM_144583	NM_001159632 NM_133699
RefSeq (protein)	NP_001034451 NP_653184	NP_001153104 NP_598460
Location (UCSC)	Chr 2: 10.72 – 10.79 Mb	Chr 12: 17.33 – 17.38 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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 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, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms.[6]