Hs05062822_cn

• Gene Symbol: ATP6V0D2
• Assay Reference Genome Location: Chr.8:86111800 on build GRCh38
• Cytoband: 8q21.3

Target Gene Details

• Entrez Gene ID: 245972
• Gene Name: ATPase H+ transporting V0 subunit d2
• Gene Aliases: ATP6D2, VMA6
• Location: Chr.8:86098910-86154225 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP6V0D2	NM_152565.1			NP_689778.1
	AK096027.1			BAC04679.1
	AY079172.1			AAL87000.1
	BC065207.1			AAH65207.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2761443	Chr.8:86097139 - 86158585 on Build GRCh38	Gain	ATP6V0D2
nsv611673	Chr.8:86094481 - 86124091 on Build GRCh38	Loss	ATP6V0D2
nsv1028959	Chr.8:85823138 - 86130154 on Build GRCh38	Gain	PSKH2 ATP6V0D2
dgv7262n100	Chr.8:86099478 - 86165139 on Build GRCh38	Gain	ATP6V0D2
nsv428204	Chr.8:85493249 - 86299979 on Build GRCh38	Gain	LOC101929627 LOC101929601 PSKH2 LOC100288562 REXO1L2P REXO1L1P SLC7A13 LOC107986879 ATP6V0D2
esv3891432	Chr.8:85988884 - 86136762 on Build GRCh38	Gain	PSKH2 ATP6V0D2

More Information

• Set Membership: Intragenic, Intronic, 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
transferrin transport
ion transmembrane transport
phagosome acidification

Function(s)

protein binding
hydrogen ion transmembrane transporter activity