Hs06167656_cn

• Gene Symbol: ATP6V1B2
• Assay Reference Genome Location: Chr.8:20203093 on build GRCh38
• Cytoband: 8p21.3

Target Gene Details

• Entrez Gene ID: 526
• Gene Name: ATPase H+ transporting V1 subunit B2
• Gene Aliases: ATP6B1B2, ATP6B2, DOOD, HO57, VATB, VPP3, Vma2, ZLS2
• Location: Chr.8:20197193-20226852 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP6V1B2	NM_001693.3			NP_001684.2
	AB208806.1			BAD92043.1
	AK294163.1
	AK298819.1
	AK312372.1
	BC003100.1			AAH03100.1
	BC007309.1			AAH07309.1
	BC030640.2			AAH30640.1
	L35249.1			AAA58661.1
	X62949.1			CAA44721.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv610759	Chr.8:19704486 - 20211331 on Build GRCh38	Gain	CSGALNACT1 INTS10 ATP6V1B2 SLC18A1 LPL
nsv522185	Chr.8:19097292 - 20497802 on Build GRCh38	Gain	SH2D4A CSGALNACT1 LZTS1 INTS10 LOC100128993 ATP6V1B2 SLC18A1 LPL LZTS1-AS1
nsv1033511	Chr.8:19893788 - 20767580 on Build GRCh38	Gain	LZTS1 ATP6V1B2 SLC18A1 LPL LZTS1-AS1
nsv6107	Chr.8:20198643 - 20243283 on Build GRCh38	Deletion	ATP6V1B2

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
proton transport
regulation of macroautophagy
transferrin transport
ion transmembrane transport
ATP metabolic process
phagosome acidification

Function(s)

protein binding
ATP binding
hydrogen ion transmembrane transporter activity
proton-transporting ATPase activity, rotational mechanism