• Gene id: 492

Gene Summary

• Gene Symbol: ATP2B3   Gene   UCSC   Ensembl
• Aliases: CFAP39, CLA2, OPCA, PMCA3, PMCA3a, SCAX1
• Gene name: ATPase plasma membrane Ca2+ transporting 3
• Alternate names: plasma membrane calcium-transporting ATPase 3, ATPase, Ca++ transporting, plasma membrane 3, cilia and flagella associated protein 39, plasma membrane calcium ATPase, plasma membrane calcium pump,
• Gene location: Xq28 (153517676: 153582928)     Exons: 25     NC_000023.11
• Gene summary(Entrez): The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells
• OMIM: 300014

SNPs

rs1394205

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.49154446C>G
NC_000002.12   g.49154446C>T
NC_000002.11   g.49381585C>G
NC_000002.11   g.49381585C>T
NG_008146.1   g.5046G>C
NG_008146.1   g.5046G>A
NM_000145.4   c.-29G>C
NM_000145.4   c.-29G>A
NM_000145.3   c.-29G>C
NM_000145.3   c.-29G>A
NM_181446.3   c.

rs6166

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48962782C>T
NC_000002.11   g.49189921C>T
NG_008146.1   g.196710G>A
NM_000145.4   c.2039G>A
NM_000145.3   c.2039G>A
NM_181446.3   c.1961G>A
NM_181446.2   c.1961G>A
XM_011532736.2   c.1247G>A
XM_011532734.2   c.1808G>A
XM_011532733.2   c.2141G>A
XM_011532  

rs6165

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48963902C>A
NC_000002.12   g.48963902C>G
NC_000002.12   g.48963902C>T
NC_000002.11   g.49191041C>A
NC_000002.11   g.49191041C>G
NC_000002.11   g.49191041C>T
NG_008146.1   g.195590G>T
NG_008146.1   g.195590G>C
NG_008146.1   g.195590G>A
NM_000145.4   c.91

rs369191560

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48982976C>A
NC_000002.12   g.48982976C>T
NC_000002.11   g.49210115C>A
NC_000002.11   g.49210115C>T
NG_008146.1   g.176516G>T
NG_008146.1   g.176516G>A
NM_000145.4   c.604G>T
NM_000145.4   c.604G>A
NM_000145.3   c.604G>T
NM_000145.3   c.604G>A
NM_181446.  

rs147685926

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48963865T>C
NC_000002.11   g.49191004T>C
NG_008146.1   g.195627A>G
NM_000145.4   c.956A>G
NM_000145.3   c.956A>G
NM_181446.3   c.878A>G
NM_181446.2   c.878A>G
XM_011532736.2   c.164A>G
XM_011532734.2   c.725A>G
XM_011532733.2   c.1058A>G
XM_011532735.2  

Protein Summary

• Protein general information: Q16720  
  • Name: Plasma membrane calcium transporting ATPase 3 (PMCA3) (EC 7.2.2.10) (Plasma membrane calcium ATPase isoform 3) (Plasma membrane calcium pump isoform 3)
  • Length: 1220  
  • Mass: 134197
  • Tissue specificity: Highly expressed in the cerebellum, particulary in the presynaptic terminals of parallel fibers-Purkinje neurons. Isoform XE and isoform XB are the most abundant isoforms and are detected at low levels in brain and fetal skeletal muscl
• Sequence:

  MGDMANSSIEFHPKPQQQRDVPQAGGFGCTLAELRTLMELRGAEALQKIEEAYGDVSGLCRRLKTSPTEGLADNT
  NDLEKRRQIYGQNFIPPKQPKTFLQLVWEALQDVTLIILEVAAIVSLGLSFYAPPGEESEACGNVSGGAEDEGEA
  EAGWIEGAAILLSVICVVLVTAFNDWSKEKQFRGLQSRIEQEQKFTVIRNGQLLQVPVAALVVGDIAQVKYGDLL
  PADGVLIQANDLKIDESSLTGESDHVRKSADKDPMLLSGTHVMEGSGRMVVTAVGVNSQTGIIFTLLGAGGEEEE
  KKDKKGKQQDGAMESSQTKAKKQDGAVAMEMQPLKSAEGGEMEEREKKKANAPKKEKSVLQGKLTKLAVQIGKAG
  LVMSAITVIILVLYFVIETFVVEGRTWLAECTPVYVQYFVKFFIIGVTVLVVAVPEGLPLAVTISLAYSVKKMMK
  DNNLVRHLDACETMGNATAICSDKTGTLTTNRMTVVQSYLGDTHYKEIPAPSALTPKILDLLVHAISINSAYTTK
  ILPPEKEGALPRQVGNKTECALLGFVLDLKRDFQPVREQIPEDKLYKVYTFNSVRKSMSTVIRMPDGGFRLFSKG
  ASEILLKKCTNILNSNGELRGFRPRDRDDMVRKIIEPMACDGLRTICIAYRDFSAGQEPDWDNENEVVGDLTCIA
  VVGIEDPVRPEVPEAIRKCQRAGITVRMVTGDNINTARAIAAKCGIIQPGEDFLCLEGKEFNRRIRNEKGEIEQE
  RLDKVWPKLRVLARSSPTDKHTLVKGIIDSTTGEQRQVVAVTGDGTNDGPALKKADVGFAMGIAGTDVAKEASDI
  ILTDDNFTSIVKAVMWGRNVYDSISKFLQFQLTVNVVAVIVAFTGACITQDSPLKAVQMLWVNLIMDTFASLALA
  TEPPTESLLLRKPYGRDKPLISRTMMKNILGHAVYQLAIIFTLLFVGELFFDIDSGRNAPLHSPPSEHYTIIFNT
  FVMMQLFNEINARKIHGERNVFDGIFSNPIFCTIVLGTFGIQIVIVQFGGKPFSCSPLSTEQWLWCLFVGVGELV
  WGQVIATIPTSQLKCLKEAGHGPGKDEMTDEELAEGEEEIDHAERELRRGQILWFRGLNRIQTQIRVVKAFRSSL
  YEGLEKPESKTSIHNFMATPEFLINDYTHNIPLIDDTDVDENEERLRAPPPPSPNQNNNAIDSGIYLTTHVTKSA
  TSSVFSSSPGSPLHSVETSL

• Structural information:
  • Interpro: IPR030325  IPR022141  IPR006068  IPR004014  IPR023299   IPR018303  IPR023298  IPR008250  IPR036412  IPR023214  IPR006408  IPR001757  
  • Prosite: PS00154
  • STRING: ENSP00000263519
• Other Databases: GeneCards:  ATP2B3  Malacards:  ATP2B3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051480	regulation of cytosolic calcium ion concentration	IDA	biological process
GO:1990034	calcium ion export across plasma membrane	IDA	biological process
GO:0015085	calcium ion transmembrane transporter activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005388	calcium transmembrane transporter activity, phosphorylative mechanism	IBA	molecular function
GO:0006874	cellular calcium ion homeostasis	IBA	biological process
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0051480	regulation of cytosolic calcium ion concentration	IBA	biological process
GO:0019829	ATPase-coupled cation transmembrane transporter activity	IBA	molecular function
GO:0030165	PDZ domain binding	IBA	molecular function
GO:0005388	calcium transmembrane transporter activity, phosphorylative mechanism	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0005516	calmodulin binding	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005388	calcium transmembrane transporter activity, phosphorylative mechanism	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005388	calcium transmembrane transporter activity, phosphorylative mechanism	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:1903779	regulation of cardiac conduction	TAS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0099509	regulation of presynaptic cytosolic calcium ion concentration	IEA	biological process
GO:0099509	regulation of presynaptic cytosolic calcium ion concentration	IEA	biological process
GO:0099509	regulation of presynaptic cytosolic calcium ion concentration	IEA	biological process
GO:0099509	regulation of presynaptic cytosolic calcium ion concentration	IEA	biological process
GO:0098793	presynapse	IEA	cellular component
GO:1903561	extracellular vesicle	HDA	cellular component
GO:1905056	calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration	IMP	molecular function
GO:1905056	calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration	IMP	molecular function
GO:1905056	calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration	IDA	molecular function
GO:1905056	calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration	IDA	molecular function
GO:0098978	glutamatergic synapse	IMP	cellular component
GO:0098978	glutamatergic synapse	IDA	cellular component
GO:0098982	GABA-ergic synapse	IMP	cellular component
GO:0098982	GABA-ergic synapse	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04024	cAMP signaling pathway
hsa04020	Calcium signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04925	Aldosterone synthesis and secretion
hsa04972	Pancreatic secretion
hsa04970	Salivary secretion
hsa04978	Mineral absorption
hsa04961	Endocrine and other factor-regulated calcium reabsorption

Diseases

Associated diseases	References
Primary aldosteronism	KEGG:H01603
Primary aldosteronism	KEGG:H01603
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq