Hs04781245_cn

• Gene Symbol: ATP2B2
• Assay Reference Genome Location: Chr.3:10333832 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 Intron 30

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP2B2	NM_001001331.2			NP_001001331.1
	NM_001683.3			NP_001674.2
	XM_005265179.4			XP_005265236.1
	XM_006713175.3			XP_006713238.1
	XM_011533752.2			XP_011532054.1
	XM_017006481.1			XP_016861970.1
	XM_017006482.1			XP_016861971.1
	XM_017006483.1			XP_016861972.1
	XM_017006484.1			XP_016861973.1
	XM_017006485.1			XP_016861974.1
	XM_017006486.1			XP_016861975.1
	XM_017006487.1			XP_016861976.1
	XM_017006488.1			XP_016861977.1
	XM_017006489.1			XP_016861978.1
	XM_017006490.1			XP_016861979.1
	XM_017006491.1			XP_016861980.1
	XM_017006492.1			XP_016861981.1
	AB210008.1
	DQ201777.1
	DQ201778.1
	L00620.1			AAA51893.1
	L20977.1			AAA50877.1
	M97260.1			AAA36456.1
	S95758.1			AAA08376.1
	U15688.1			AAA60985.1
	X63575.1			CAA45131.1

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

More Information

Additional Information:

For this assay, SNP(s) [rs73032212] 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, Intronic, Non-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