ATP2B3 (ATPase plasma membrane Ca2+ transporting 3)

2014-06-01  

Identity

HGNC
LOCATION
Xq28
LOCUSID
ALIAS
CFAP39,CLA2,OPCA,PMCA3,PMCA3a,SCAX1
FUSION GENES

Other Information

Locus ID:

NCBI: 492
MIM: 300014
HGNC: 816
Ensembl: ENSG00000067842

Variants:

dbSNP: 492
ClinVar: 492
TCGA: ENSG00000067842
COSMIC: ATP2B3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000067842ENST00000263519Q16720
ENSG00000067842ENST00000349466Q16720
ENSG00000067842ENST00000359149Q16720
ENSG00000067842ENST00000370186Q16720
ENSG00000067842ENST00000393842Q16720

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Calcium signaling pathwayKEGGko04020
Calcium signaling pathwayKEGGhsa04020
Salivary secretionKEGGko04970
Salivary secretionKEGGhsa04970
Pancreatic secretionKEGGko04972
Pancreatic secretionKEGGhsa04972
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
HemostasisREACTOMER-HSA-109582
Platelet homeostasisREACTOMER-HSA-418346
Platelet calcium homeostasisREACTOMER-HSA-418360
Reduction of cytosolic Ca++ levelsREACTOMER-HSA-418359
Muscle contractionREACTOMER-HSA-397014
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Ion transport by P-type ATPasesREACTOMER-HSA-936837
Cardiac conductionREACTOMER-HSA-5576891
Ion homeostasisREACTOMER-HSA-5578775

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
234165192013Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension.133
240820522014Somatic ATP1A1, ATP2B3, and KCNJ5 mutations in aldosterone-producing adenomas.38
229123982012Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.31
197338382009Case-control study of six genes asymmetrically expressed in the two cerebral hemispheres: association of BAIAP2 with attention-deficit/hyperactivity disorder.20
262858142015Novel somatic mutations and distinct molecular signature in aldosterone-producing adenomas.19
173361742007Placental calcium transporter (PMCA3) gene expression predicts intrauterine bone mineral accrual.18
263510282015Different Somatic Mutations in Multinodular Adrenals With Aldosterone-Producing Adenoma.12
259538952015A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+ Pump Impairs Cellular Ca2+ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations.8
270356562016Cellular Pathophysiology of an Adrenal Adenoma-Associated Mutant of the Plasma Membrane Ca(2+)-ATPase ATP2B3.7
127842502003Expression and role of calcium-ATPase pump and sodium-calcium exchanger in differentiated trophoblasts from human term placenta.4

Citation

Dessen P

ATP2B3 (ATPase plasma membrane Ca2+ transporting 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/53954/atp2b3-(atpase-plasma-membrane-ca2+-transporting-3)