ATP2B1 (ATPase plasma membrane Ca2+ transporting 1)

2007-02-01  

Identity

HGNC
ATP2B1
LOCATION
12q21.33
LOCUSID
490
ALIAS
PMCA1,PMCA1kb
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000070961ENST00000261173P20020
ENSG00000070961ENST00000261173A0A024RBC7
ENSG00000070961ENST00000359142P20020
ENSG00000070961ENST00000393164E7ERY9
ENSG00000070961ENST00000428670P20020
ENSG00000070961ENST00000428670A0A024RBC7
ENSG00000070961ENST00000550716H0YHH6
ENSG00000070961ENST00000551310F8W1V5
ENSG00000070961ENST00000635033A0A0U1RQU3

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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

PathwaySourceExternal ID
Calcium signaling pathwayKEGGko04020
Calcium signaling pathwayKEGGhsa04020
Salivary secretionKEGGko04970
Salivary secretionKEGGhsa04970
Pancreatic secretionKEGGko04972
Pancreatic secretionKEGGhsa04972
Mineral absorptionKEGGko04978
Mineral absorptionKEGGhsa04978
Endocrine and other factor-regulated calcium reabsorptionKEGGko04961
Endocrine and other factor-regulated calcium reabsorptionKEGGhsa04961
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164712445AntihypertensivesChemicalClinicalAnnotationassociatedPD25385345
PA443796Coronary Artery DiseaseDiseaseClinicalAnnotationassociatedPD25385345
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD25385345

References

Pubmed IDYearTitleCitations
372118012024Association between polymorphism and haplotype of ATP2B1 gene and skeletal fluorosis in Han population.0
384304572024ATP2B1 gene polymorphisms associated with resistant hypertension in the Japanese population.1
372118012024Association between polymorphism and haplotype of ATP2B1 gene and skeletal fluorosis in Han population.0
384304572024ATP2B1 gene polymorphisms associated with resistant hypertension in the Japanese population.1
354699712023The Plasma Membrane Ca(2+)-ATPase, a Molecular Target for Tau-induced Cytosolic Calcium Dysregulation.1
369160842023ATP2B1-AS1 exacerbates sepsis-induced cell apoptosis and inflammation by regulating miR-23a-3p/TLR4 axis.1
354699712023The Plasma Membrane Ca(2+)-ATPase, a Molecular Target for Tau-induced Cytosolic Calcium Dysregulation.1
369160842023ATP2B1-AS1 exacerbates sepsis-induced cell apoptosis and inflammation by regulating miR-23a-3p/TLR4 axis.1
350310212022Re-wiring and gene expression changes of AC025034.1 and ATP2B1 play complex roles in early-to-late breast cancer progression.6
352531822022ATP2B1 gene rs71454161, rs73196661 and rs73196675 polymorphisms in eclampsia.0
353584162022De novo variants in ATP2B1 lead to neurodevelopmental delay.7
350310212022Re-wiring and gene expression changes of AC025034.1 and ATP2B1 play complex roles in early-to-late breast cancer progression.6
352531822022ATP2B1 gene rs71454161, rs73196661 and rs73196675 polymorphisms in eclampsia.0
353584162022De novo variants in ATP2B1 lead to neurodevelopmental delay.7
337601992021Serum from patients with hypertension promotes endothelial dysfunction to induce trophoblast invasion through the miR‑27b‑3p/ATPase plasma membrane Ca(2+) transporting 1 axis.4

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/tumors-explorer/gene-explorer/