Hs01754665_cn

• Gene Symbol: ATP1A2
• Assay Reference Genome Location: Chr.1:160124069 on build GRCh38
• Cytoband: 1q23.2

Target Gene Details

• Entrez Gene ID: 477
• Gene Name: ATPase Na+/K+ transporting subunit alpha 2
• Gene Aliases: FHM2, MHP2
• Location: Chr.1:160115730-160143591 on Build GRCh38
• Assay Gene Location: Overlaps Exon 5 - Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP1A2	NM_000702.3			NP_000693.1
	AB018321.2
	AK091617.1
	AK124581.1
	AK295048.1
	AK314296.1
	AL831991.1
	AL831997.1
	AY946014.1			AAX55909.1
	BC052271.1			AAH52271.2
	KU177927.1
	KU177928.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv520189	Chr.1:160041722 - 160125835 on Build GRCh38	Loss	KCNJ10 KCNJ9 IGSF8 ATP1A2

More Information

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

Panther Classification:

Molecular Function -

primary active transporter

Gene Ontology Categories:

Process(es)

neurotransmitter uptake
regulation of the force of heart contraction
regulation of respiratory gaseous exchange by neurological system process
potassium ion transport
sodium ion transport
cellular sodium ion homeostasis
regulation of smooth muscle contraction
regulation of striated muscle contraction
regulation of blood pressure
adult locomotory behavior
visual learning
potassium ion import
establishment or maintenance of transmembrane electrochemical gradient
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
ATP hydrolysis coupled proton transport
regulation of vasoconstriction
cellular potassium ion homeostasis
ion transmembrane transport
response to nicotine
sodium ion export from cell
locomotion
negative regulation of heart contraction
negative regulation of striated muscle contraction
ATP metabolic process
negative regulation of cytosolic calcium ion concentration
regulation of glutamate uptake involved in transmission of nerve impulse
regulation of synaptic transmission, glutamatergic
relaxation of cardiac muscle
cardiac muscle contraction
cellular response to mechanical stimulus
cellular response to steroid hormone stimulus
regulation of cardiac muscle cell contraction
membrane repolarization
membrane depolarization during cardiac muscle cell action potential
cell communication by electrical coupling involved in cardiac conduction
negative regulation of calcium ion transmembrane transport
negative regulation of calcium:sodium antiporter activity
response to glycoside
regulation of cardiac conduction
potassium ion import across plasma membrane

Function(s)

sodium:potassium-exchanging ATPase activity
protein binding
ATP binding
drug binding
ATPase activity
potassium ion binding
sodium ion binding
chaperone binding
steroid hormone binding