Hs03054296_cn

• Gene Symbol: ATP2B1
• Assay Reference Genome Location: Chr.12:89588696 on build GRCh38
• Cytoband: 12q21.33

Target Gene Details

• Entrez Gene ID: 490
• Gene Name: ATPase plasma membrane Ca2+ transporting 1
• Gene Aliases: PMCA1, PMCA1kb
• Location: Chr.12:89588049-89709353 on Build GRCh38
• Assay Gene Location: Within Exon 23

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP2B1	NM_001001323.1	21	6286	NP_001001323.1
	NM_001682.2	20	6132	NP_001673.2
	XM_017019357.1	20	6063	XP_016874846.1
	XM_017019358.1	19	5976	XP_016874847.1
	XM_017019359.1	20	6130	XP_016874848.1
	AF070606.1	1	1183

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832479	Chr.12:89467313 - 89672992 on Build GRCh38	Gain	ATP2B1 POC1B GALNT4 POC1B-GALNT4

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

primary active transporter

Gene Ontology Categories:

Process(es)

neural retina development
transport
cellular calcium ion homeostasis
brain development
aging
response to cold
ion transmembrane transport
calcium ion transmembrane transport
cellular response to vitamin D
cellular response to corticosterone stimulus
calcium ion export
regulation of cardiac conduction

Function(s)

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