Hs00354482_cn

• Gene Symbol: ATP6V0A4
• Assay Reference Genome Location: Chr.7:138798052 on build GRCh38
• Cytoband: 7q34

Target Gene Details

• Entrez Gene ID: 50617
• Gene Name: ATPase H+ transporting V0 subunit a4
• Gene Aliases: A4, ATP6N1B, ATP6N2, RDRTA2, RTA1C, RTADR, STV1, VPH1, VPP2
• Location: Chr.7:138706294-138799839 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP6V0A4	NM_020632.2			NP_065683.2
	NM_130840.2			NP_570855.2
	XM_005250393.1			XP_005250450.1
	XM_005250394.3			XP_005250451.1
	AF245517.1			AAG11415.1
	AK292945.1
	BC109304.1			AAI09305.1
	BC109305.1			AAI09306.1
	DB230144.1

Target Gene Details

• Entrez Gene ID: 155006
• Gene Name: transmembrane protein 213
• Gene Aliases: -
• Location: Chr.7:138797487-138806759 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TMEM213	NM_001085429.1			NP_001078898.1
	XM_005250167.3	1	566	XP_005250224.1
	AK055841.1
	BC131697.1	1	105
	DA626421.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv831154	Chr.7:138785743 - 138989367 on Build GRCh38	Gain	KIAA1549 ATP6V0A4 TMEM213
esv2735212	Chr.7:138060002 - 140415947 on Build GRCh38	Deletion	ATP6V0A4 LOC105375532 FMC1 CLEC2L AKR1D1 JHDM1D-AS1 LUC7L2 C7orf55-LUC7L2 MIR4468 UBN2 LOC105375531 KLRG2 ZC3HAV1L HIPK2 SLC37A3 ZC3HAV1 KDM7A LOC100129148 PARP12 RAB19 TRIM24 TTC26 KIAA1549 TBXAS1 SVOPL TMEM213
esv3615199	Chr.7:138793218 - 138823621 on Build GRCh38	Gain	ATP6V0A4 TMEM213
esv3615200	Chr.7:138794105 - 138836379 on Build GRCh38	Gain	KIAA1549 ATP6V0A4 TMEM213
nsv1030956	Chr.7:138478424 - 138894773 on Build GRCh38	Gain	KIAA1549 ATP6V0A4 SVOPL TMEM213 TRIM24

More Information

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

Panther Classification:

Molecular Function -

ATP synthase

Gene Ontology Categories:

Process(es)

ossification
regulation of pH
vacuolar acidification
excretion
sensory perception of sound
insulin receptor signaling pathway
ATP synthesis coupled proton transport
ATP hydrolysis coupled proton transport
proton transport
transferrin transport
ion transmembrane transport
vacuolar proton-transporting V-type ATPase complex assembly
phagosome acidification

Function(s)

protein binding
proton-transporting ATPase activity, rotational mechanism
ATPase binding