Hs02683121_cn

• Gene Symbol: ATP6V1B2
• Assay Reference Genome Location: Chr.8:20220606 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 Exon 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP6V1B2	NM_001693.3	14	1954	NP_001684.2
	AB208806.1	11	5824	BAD92043.1
	AK127443.1	1	1947
	AK294163.1	15	1714
	AK298819.1	12	1403
	BC003100.1	14	1756	AAH03100.1
	BC007309.1	14	1711	AAH07309.1
	BC030640.2	14	1766	AAH30640.1
	L35249.1	14	1743	AAA58661.1
	M60346.1	11	1425	AAA35610.1
	X62949.1	14	1765	CAA44721.1

Target Copy Number Variation Details

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

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

More Information

• Set Membership: Intragenic, 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