Hs01623961_cn

• Gene Symbol: ATP6V1C2
• Assay Reference Genome Location: Chr.2:10722847 on build GRCh38
• Cytoband: 2p25.1

Target Gene Details

• Entrez Gene ID: 245973
• Gene Name: ATPase H+ transporting V1 subunit C2
• Gene Aliases: ATP6C2, VMA5
• Location: Chr.2:10720974-10785110 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP6V1C2	NM_001039362.1			NP_001034451.1
	NM_144583.3			NP_653184.2
	XM_011510339.2			XP_011508641.1
	XM_011510340.2			XP_011508642.1
	XM_011510341.2			XP_011508643.1
	XM_017003745.1			XP_016859234.1
	AK292952.1
	AY039759.1			AAK83464.1
	BC012142.1			AAH12142.1
	BX358022.2
	CD636943.1
	DB230703.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1000731	Chr.2:10618531 - 10803756 on Build GRCh38	Gain	NOL10 PDIA6 RN7SL832P ATP6V1C2
nsv833381	Chr.2:10583339 - 10771158 on Build GRCh38	Loss	NOL10 RN7SL832P ATP6V1C2

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

ATP synthase

Gene Ontology Categories:

Process(es)

insulin receptor signaling pathway
ATP hydrolysis coupled proton transport
regulation of macroautophagy
positive regulation of Wnt signaling pathway
transferrin transport
ion transmembrane transport
phagosome acidification

Function(s)

hydrogen-exporting ATPase activity, phosphorylative mechanism
protein dimerization activity