Hs04099097_cn

• Gene Symbol: ATP2B3
• Assay Reference Genome Location: Chr.X:153519429 on build GRCh38
• Cytoband: Xq28

Target Gene Details

• Entrez Gene ID: 492
• Gene Name: ATPase plasma membrane Ca2+ transporting 3
• Gene Aliases: CFAP39, CLA2, OPCA, PMCA3, PMCA3a, SCAX1
• Location: Chr.X:153517677-153582929 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP2B3	XM_005274689.3			XP_005274746.1
	XM_005274690.3			XP_005274747.1
	XM_005274691.3			XP_005274748.1
	XM_005274692.3			XP_005274749.1
	XM_011531174.2			XP_011529476.1
	XM_011531177.2			XP_011529479.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv33199	Chr.X:153065734 - 154591978 on Build GRCh38	Gain+Loss	OPN1MW2 SNORA70 SLC6A8 HCFC1 MAGEA1 DUSP9 ARHGAP4 LOC105373381 CTAG1A LAGE3 MIR3202-1 PNCK PLXNA3 L1CAM LOC107983954 MECP2 ATP2B3 UBL4A RPL10 LOC105373386 CH17-340M24.3 TKTL1 HAUS7 TAZ GDI1 TREX2 LOC107987332 AVPR2 BCAP31 PLXNB3 OPN1MW3 LOC105373377 DNASE1L1 ZNF275 IDH3G TEX28 TMEM187 PDZD4 LOC105373383 FAM223A ATP6AP1 SRPK3 IRAK1 PNMA6A HCFC1-AS1 MIR718 RENBP FAM3A OPN1MW G6PD EMD LCA10 SLC10A3 SSR4 NAA10 IKBKG OPN1LW FLNA MIR3202-2 ABCD1 FAM50A MIR6858 ZFP92 FAM58A LOC105373378 BGN

More Information

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

Panther Classification:

Molecular Function -

primary active transporter

Gene Ontology Categories:

Process(es)

transport
cellular calcium ion homeostasis
ion transmembrane transport
calcium ion transmembrane transport
regulation of cardiac conduction

Function(s)

calcium-transporting ATPase activity
calmodulin binding
ATP binding
PDZ domain binding
metal ion binding