Hs01599470_cn

• Gene Symbol: ATP2B4
• Assay Reference Genome Location: Chr.1:203627096 on build GRCh38
• Cytoband: 1q32.1

Target Gene Details

• Entrez Gene ID: 493
• Gene Name: ATPase plasma membrane Ca2+ transporting 4
• Gene Aliases: ATP2B2, MXRA1, PMCA4, PMCA4b, PMCA4x
• Location: Chr.1:203626787-203744081 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP2B4	NM_001001396.2	1	310	NP_001001396.1
	NM_001684.4	1	310	NP_001675.3
	AL706212.1	1	297
	BC140774.1
	BX537444.1	1	537	CAD97686.1
	CR749393.1	1	240	CAH18241.1
	CR936708.1	1	264
	DN997129.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2762217	Chr.1:203409626 - 203630064 on Build GRCh38	Gain	OPTC ATP2B4 PRELP

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

primary active transporter

Gene Ontology Categories:

Process(es)

neural retina development
regulation of transcription from RNA polymerase II promoter
cellular calcium ion homeostasis
spermatogenesis
negative regulation of nitric oxide mediated signal transduction
hippocampus development
sperm motility
positive regulation of peptidyl-serine phosphorylation
ion transmembrane transport
negative regulation of nitric oxide biosynthetic process
negative regulation of nitric-oxide synthase activity
response to hydrostatic pressure
calcium ion transmembrane transport
negative regulation of calcineurin-NFAT signaling cascade
cellular response to epinephrine stimulus
calcium ion transmembrane import into cytosol
calcium ion import across plasma membrane
negative regulation of the force of heart contraction
negative regulation of arginine catabolic process
negative regulation of adrenergic receptor signaling pathway involved in heart process
calcium ion export
negative regulation of peptidyl-cysteine S-nitrosylation
regulation of sodium ion transmembrane transport
regulation of cell cycle G1/S phase transition
negative regulation of cardiac muscle hypertrophy in response to stress
negative regulation of citrulline biosynthetic process
regulation of cardiac conduction
positive regulation of cAMP-dependent protein kinase activity

Function(s)

calcium-transporting ATPase activity
protein binding
calmodulin binding
ATP binding
sodium channel regulator activity
PDZ domain binding
protein phosphatase 2B binding
nitric-oxide synthase inhibitor activity
metal ion binding
nitric-oxide synthase binding
scaffold protein binding