Hs06963940_cn

• Gene Symbol: ATP2A2
• Assay Reference Genome Location: Chr.12:110310875 on build GRCh38
• Cytoband: 12q24.11

Target Gene Details

• Entrez Gene ID: 488
• Gene Name: ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
• Gene Aliases: ATP2B, DAR, DD, SERCA2
• Location: Chr.12:110281227-110351093 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP2A2	NM_001681.3			NP_001672.1
	NM_170665.3			NP_733765.1
	XM_005253888.2			XP_005253945.1
	XM_011538402.2			XP_011536704.1
	AK293877.1
	BC035588.1			AAH35588.1
	KU177929.1
	KU177930.1
	KU177931.1
	M23114.1			AAA53193.1
	M23115.1			AAA53194.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1044428	Chr.12:110227288 - 110387994 on Build GRCh38	Gain	ATP2A2 ANAPC7

More Information

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

Panther Classification:

Molecular Function -

primary active transporter

Gene Ontology Categories:

Process(es)

regulation of the force of heart contraction
ER-nucleus signaling pathway
organelle organization
cell adhesion
epidermis development
positive regulation of heart rate
regulation of cardiac muscle contraction by calcium ion signaling
transition between fast and slow fiber
endoplasmic reticulum calcium ion homeostasis
positive regulation of endoplasmic reticulum calcium ion concentration
T-tubule organization
ion transmembrane transport
cellular response to oxidative stress
response to endoplasmic reticulum stress
response to peptide hormone
negative regulation of heart contraction
relaxation of cardiac muscle
sarcoplasmic reticulum calcium ion transport
calcium ion transmembrane transport
regulation of cardiac muscle cell membrane potential
regulation of cardiac muscle cell action potential involved in regulation of contraction
regulation of calcium ion-dependent exocytosis of neurotransmitter
calcium ion transport from cytosol to endoplasmic reticulum
regulation of cardiac conduction
calcium ion import into sarcoplasmic reticulum

Function(s)

calcium-transporting ATPase activity
calcium ion binding
protein binding
ATP binding
protein C-terminus binding
enzyme binding
lutropin-choriogonadotropic hormone receptor binding
S100 protein binding
calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential