ATP2B1 (ATPase plasma membrane Ca2+ transporting 1)

2007-02-01 Affiliation

Identity

HGNC

ATP2B1

LOCATION

12q21.33

LOCUSID

490

ALIAS

PMCA1,PMCA1kb

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 490
MIM: 108731
HGNC: 814
Ensembl: ENSG00000070961

Variants:

dbSNP: 490
ClinVar: 490
TCGA: ENSG00000070961
COSMIC: ATP2B1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000070961	ENST00000261173	P20020
ENSG00000070961	ENST00000261173	A0A024RBC7
ENSG00000070961	ENST00000359142	P20020
ENSG00000070961	ENST00000393164	E7ERY9
ENSG00000070961	ENST00000428670	P20020
ENSG00000070961	ENST00000428670	A0A024RBC7
ENSG00000070961	ENST00000550716	H0YHH6
ENSG00000070961	ENST00000551310	F8W1V5
ENSG00000070961	ENST00000635033	A0A0U1RQU3

Expression (GTEx)

100

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Calcium signaling pathway	KEGG	ko04020
Calcium signaling pathway	KEGG	hsa04020
Salivary secretion	KEGG	ko04970
Salivary secretion	KEGG	hsa04970
Pancreatic secretion	KEGG	ko04972
Pancreatic secretion	KEGG	hsa04972
Mineral absorption	KEGG	ko04978
Mineral absorption	KEGG	hsa04978
Endocrine and other factor-regulated calcium reabsorption	KEGG	ko04961
Endocrine and other factor-regulated calcium reabsorption	KEGG	hsa04961
Adrenergic signaling in cardiomyocytes	KEGG	hsa04261
Adrenergic signaling in cardiomyocytes	KEGG	ko04261
cGMP-PKG signaling pathway	KEGG	hsa04022
cGMP-PKG signaling pathway	KEGG	ko04022
cAMP signaling pathway	KEGG	hsa04024
cAMP signaling pathway	KEGG	ko04024
Hemostasis	REACTOME	R-HSA-109582
Platelet homeostasis	REACTOME	R-HSA-418346
Platelet calcium homeostasis	REACTOME	R-HSA-418360
Reduction of cytosolic Ca++ levels	REACTOME	R-HSA-418359
Muscle contraction	REACTOME	R-HSA-397014
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
Ion channel transport	REACTOME	R-HSA-983712
Ion transport by P-type ATPases	REACTOME	R-HSA-936837
Cardiac conduction	REACTOME	R-HSA-5576891
Ion homeostasis	REACTOME	R-HSA-5578775

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA164712445	Antihypertensives	Chemical	ClinicalAnnotation	associated	PD	25385345
PA443796	Coronary Artery Disease	Disease	ClinicalAnnotation	associated	PD	25385345
PA444552	Hypertension	Disease	ClinicalAnnotation	associated	PD	25385345

References

Pubmed ID	Year	Title	Citations
19430479	2009	Genome-wide association study of blood pressure and hypertension.	542
19396169	2009	A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.	350
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
20700443	2010	Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.	76
20479155	2010	Blood pressure and hypertension are associated with 7 loci in the Japanese population.	63
22246182	2012	STIM1 is required for attenuation of PMCA-mediated Ca2+ clearance during T-cell activation.	38
21045733	2011	Discovery and replication of novel blood pressure genetic loci in the Women's Genome Health Study.	31
20414254	2010	Recapitulation of two genomewide association studies on blood pressure and essential hypertension in the Korean population.	29
20921432	2010	Common variants in the ATP2B1 gene are associated with susceptibility to hypertension: the Japanese Millennium Genome Project.	29
11786550	2002	Plasma membrane Ca2+ ATPase isoform 2b interacts preferentially with Na+/H+ exchanger regulatory factor 2 in apical plasma membranes.	28

Citation

Dessen P

ATP2B1 (ATPase plasma membrane Ca2+ transporting 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43761/atp2b1-(atpase-plasma-membrane-ca2+-transporting-1)