ATP2B2 (ATPase plasma membrane Ca2+ transporting 2)

2007-02-01  

Identity

HGNC
ATP2B2
LOCATION
3p25.3
LOCUSID
491
ALIAS
PMCA2,PMCA2a,PMCA2i
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 491
MIM: 108733
HGNC: 815
Ensembl: ENSG00000157087

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157087ENST00000352432A0A2U3TZI3
ENSG00000157087ENST00000360273Q01814
ENSG00000157087ENST00000360273A0A024R2K6
ENSG00000157087ENST00000397077Q01814
ENSG00000157087ENST00000397077A0A024R2E4
ENSG00000157087ENST00000452124Q01814
ENSG00000157087ENST00000460129Q01814
ENSG00000157087ENST00000467702A0A2R8Y535
ENSG00000157087ENST00000638646A0A2U3U055
ENSG00000157087ENST00000643662Q01814
ENSG00000157087ENST00000644553A0A2R8Y4R4
ENSG00000157087ENST00000644807Q01814
ENSG00000157087ENST00000645850Q01814
ENSG00000157087ENST00000645850A0A024R2K6
ENSG00000157087ENST00000646379Q01814
ENSG00000157087ENST00000646379A0A024R2E4

Expression (GTEx)

0
50
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

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
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
seminal vesicle
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

References

Pubmed IDYearTitleCitations
376757732023ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.3
376757732023ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.3
305358042019De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.16
305358042019De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.16
294526112018PMCA2 pump mutations and hereditary deafness.9
294526122018Survival strategies for mouse cerebellar Purkinje neurons lacking PMCA2.0
296556592018A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia.0
294526112018PMCA2 pump mutations and hereditary deafness.9
294526122018Survival strategies for mouse cerebellar Purkinje neurons lacking PMCA2.0
296556592018A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia.0
282358012017The scaffolding protein NHERF1 regulates the stability and activity of the tyrosine kinase HER2.12
285277082017Cortical cytoskeleton dynamics regulates plasma membrane calcium ATPase isoform-2 (PMCA2) activity.0
282358012017The scaffolding protein NHERF1 regulates the stability and activity of the tyrosine kinase HER2.12
285277082017Cortical cytoskeleton dynamics regulates plasma membrane calcium ATPase isoform-2 (PMCA2) activity.0
267298712016PMCA2 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/gene-fusions-explorer/meetings/js/lib/popper.js