ATP2B2 (ATPase plasma membrane Ca2+ transporting 2)

2007-02-01 Affiliation

Identity

HGNC

ATP2B2

LOCATION

3p25.3

LOCUSID

491

ALIAS

PMCA2,PMCA2a,PMCA2i

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: 491
MIM: 108733
HGNC: 815
Ensembl: ENSG00000157087

Variants:

dbSNP: 491
ClinVar: 491
TCGA: ENSG00000157087
COSMIC: ATP2B2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000157087	ENST00000352432	A0A2U3TZI3
ENSG00000157087	ENST00000360273	Q01814
ENSG00000157087	ENST00000360273	A0A024R2K6
ENSG00000157087	ENST00000397077	Q01814
ENSG00000157087	ENST00000397077	A0A024R2E4
ENSG00000157087	ENST00000452124	Q01814
ENSG00000157087	ENST00000460129	Q01814
ENSG00000157087	ENST00000467702	A0A2R8Y535
ENSG00000157087	ENST00000638646	A0A2U3U055
ENSG00000157087	ENST00000643662	Q01814
ENSG00000157087	ENST00000644553	A0A2R8Y4R4
ENSG00000157087	ENST00000644807	Q01814
ENSG00000157087	ENST00000645850	Q01814
ENSG00000157087	ENST00000645850	A0A024R2K6
ENSG00000157087	ENST00000646379	Q01814
ENSG00000157087	ENST00000646379	A0A024R2E4

Expression (GTEx)

100

150

200

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
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

References

Pubmed ID	Year	Title	Citations
37675773	2023	ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.	3
37675773	2023	ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.	3
30535804	2019	De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.	16
30535804	2019	De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.	16
29452611	2018	PMCA2 pump mutations and hereditary deafness.	9
29452612	2018	Survival strategies for mouse cerebellar Purkinje neurons lacking PMCA2.	0
29655659	2018	A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia.	0
29452611	2018	PMCA2 pump mutations and hereditary deafness.	9
29452612	2018	Survival strategies for mouse cerebellar Purkinje neurons lacking PMCA2.	0
29655659	2018	A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia.	0
28235801	2017	The scaffolding protein NHERF1 regulates the stability and activity of the tyrosine kinase HER2.	12
28527708	2017	Cortical cytoskeleton dynamics regulates plasma membrane calcium ATPase isoform-2 (PMCA2) activity.	0
28235801	2017	The scaffolding protein NHERF1 regulates the stability and activity of the tyrosine kinase HER2.	12
28527708	2017	Cortical cytoskeleton dynamics regulates plasma membrane calcium ATPase isoform-2 (PMCA2) activity.	0
26729871	2016	PMCA2 regulates HER2 protein kinase localization and signaling and promotes HER2-mediated breast cancer.	33

Citation

Dessen P

ATP2B2 (ATPase plasma membrane Ca2+ transporting 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43952/haematological-explorer/css/card-gene.css