Hs02247647_cn

• Gene Symbol: ATP6V0B
• Assay Reference Genome Location: Chr.1:43976118 on build GRCh38
• Cytoband: 1p34.1

Target Gene Details

• Entrez Gene ID: 533
• Gene Name: ATPase H+ transporting V0 subunit b
• Gene Aliases: ATP6F, HATPL, VMA16
• Location: Chr.1:43974648-43978300 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP6V0B	NM_001039457.2			NP_001034546.1
	NM_001294333.1			NP_001281262.1
	NM_004047.4			NP_004038.1
	AI439545.1
	BC000423.2			AAH00423.1
	BC005876.2			AAH05876.1
	BG475609.1
	BG831921.1
	BI770034.1
	BP250477.1
	BT007151.1			AAP35815.1
	CR456972.1			CAG33253.1
	D89052.1			BAA13753.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv546141	Chr.1:43975861 - 43985562 on Build GRCh38	Loss	ATP6V0B B4GALT2

More Information

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

Panther Classification:

Molecular Function -

ATP synthase

Gene Ontology Categories:

Process(es)

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

Function(s)

transporter activity
proton-transporting ATPase activity, rotational mechanism