Hs03077478_cn

• Gene Symbol: ATP2B2
• Assay Reference Genome Location: Chr.3:10327455 on build GRCh38
• Cytoband: 3p25.3

Target Gene Details

• Entrez Gene ID: 491
• Gene Name: ATPase plasma membrane Ca2+ transporting 2
• Gene Aliases: PMCA2, PMCA2a, PMCA2i
• Location: Chr.3:10324023-10707962 on Build GRCh38
• Assay Gene Location: Within Exon 32

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP2B2	NM_001001331.2	23	5530	NP_001001331.1
	NM_001683.3	20	5395	NP_001674.2
	XM_005265179.4	25	5714	XP_005265236.1
	XM_006713175.3	25	5598	XP_006713238.1
	XM_011533752.2	23	5503	XP_011532054.1
	XM_017006481.1	26	5841	XP_016861970.1
	XM_017006482.1	23	5532	XP_016861971.1
	XM_017006483.1	21	5542	XP_016861972.1
	XM_017006484.1	23	5505	XP_016861973.1
	XM_017006485.1	24	5809	XP_016861974.1
	XM_017006486.1	25	5864	XP_016861975.1
	XM_017006487.1	22	5462	XP_016861976.1
	XM_017006489.1	23	5638	XP_016861978.1
	XM_017006491.1	22	5728	XP_016861980.1
	XM_017006492.1	24	5723	XP_016861981.1
	AB210008.1	20	5468
	BX489007.1	1	196
	R53305.1	1	381

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv436362	Chr.3:10048344 - 11860564 on Build GRCh38	Deletion	IRAK2 TATDN2 SEC13 MIR378B TAMM41 MIR885 LINC00852 ATP2B2 LOC101927467 SLC6A11 VGLL4 FANCD2OS ATG7 FANCD2 GHRLOS LINC00606 GHRL ATP2B2-IT2 BRK1 HRH1 SLC6A1 SLC6A1-AS1 VHL
nsv508903	Chr.3:10275353 - 10401894 on Build GRCh38	Insertion	GHRLOS GHRL TATDN2 SEC13 MIR378B MIR885 LINC00852 ATP2B2
dgv762e201	Chr.3:10008967 - 11913136 on Build GRCh38	Deletion	EMC3 MIR378B LOC101927467 SLC6A11 FANCD2OS FANCD2 GHRL ATP2B2-IT2 SLC6A1-AS1 CIDECP VHL IRAK2 TATDN2 SEC13 TAMM41 MIR885 LINC00852 FANCD2P2 LOC401052 ATP2B2 VGLL4 ATG7 GHRLOS LINC00606 BRK1 HRH1 SLC6A1
nsv1121603	Chr.3:10071433 - 11889279 on Build GRCh38	Deletion	IRAK2 TATDN2 SEC13 MIR378B TAMM41 MIR885 LINC00852 FANCD2P2 ATP2B2 LOC101927467 SLC6A11 VGLL4 FANCD2OS ATG7 FANCD2 GHRLOS LINC00606 GHRL ATP2B2-IT2 BRK1 HRH1 SLC6A1 SLC6A1-AS1 VHL
nsv436869	Chr.3:10064456 - 11877985 on Build GRCh38	Insertion	IRAK2 TATDN2 SEC13 MIR378B TAMM41 MIR885 LINC00852 FANCD2P2 ATP2B2 LOC101927467 SLC6A11 VGLL4 FANCD2OS ATG7 FANCD2 GHRLOS LINC00606 GHRL ATP2B2-IT2 BRK1 HRH1 SLC6A1 SLC6A1-AS1 VHL
nsv1073204	Chr.3:9996548 - 11875005 on Build GRCh38	Deletion	EMC3 MIR378B LOC101927467 SLC6A11 FANCD2OS FANCD2 GHRL ATP2B2-IT2 SLC6A1-AS1 CIDECP VHL IRAK2 TATDN2 SEC13 TAMM41 MIR885 LINC00852 FANCD2P2 LOC401052 ATP2B2 VGLL4 ATG7 GHRLOS LINC00606 BRK1 HRH1 SLC6A1 EMC3-AS1

More Information

Additional Information:

For this assay, SNP(s) [rs73125694] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

primary active transporter

Gene Ontology Categories:

Process(es)

transport
calcium ion transport
organelle organization
lactation
sensory perception of sound
locomotory behavior
regulation of cell size
cerebellar Purkinje cell differentiation
cerebellar granule cell differentiation
neuron differentiation
ion transmembrane transport
locomotion
serotonin metabolic process
otolith mineralization
cGMP metabolic process
regulation of synaptic plasticity
synapse organization
neuromuscular process controlling balance
detection of mechanical stimulus involved in sensory perception of sound
regulation of cytosolic calcium ion concentration
positive regulation of calcium ion transport
auditory receptor cell stereocilium organization
calcium ion transmembrane transport
cochlea development
regulation of cardiac conduction

Function(s)

calcium-transporting ATPase activity
protein binding
calmodulin binding
ATP binding
calcium-dependent ATPase activity
metal ion binding