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Aliases for ATP2B2 Gene

Aliases for ATP2B2 Gene

  • ATPase Plasma Membrane Ca2+ Transporting 2 2 3 5
  • Plasma Membrane Calcium-Transporting ATPase 2 2 3
  • ATPase, Ca++ Transporting, Plasma Membrane 2 2 3
  • Plasma Membrane Ca2+ Pump 2 2 3
  • PMCA2 3 4
  • Plasma Membrane Calcium ATPase Isoform 2 4
  • Plasma Membrane Calcium Pump Isoform 2 4
  • Plasma Membrane Calcium ATPase 3
  • Plasma Membrane Ca(2+)-ATPase 3
  • Plasma Membrane Calcium Pump 3
  • EC 4
  • PMCA2a 3
  • PMCA2i 3

External Ids for ATP2B2 Gene

Previous GeneCards Identifiers for ATP2B2 Gene

  • GC03M010298
  • GC03M010344
  • GC03M010342
  • GC03M010365

Summaries for ATP2B2 Gene

Entrez Gene Summary for ATP2B2 Gene

  • The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for ATP2B2 Gene

ATP2B2 (ATPase Plasma Membrane Ca2+ Transporting 2) is a Protein Coding gene. Diseases associated with ATP2B2 include Deafness, Autosomal Recessive 12 and Chromosome 3Pter-P25 Deletion Syndrome. Among its related pathways are Cardiac conduction and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include calcium ion binding and calmodulin binding. An important paralog of this gene is ATP2B3.

UniProtKB/Swiss-Prot for ATP2B2 Gene

  • This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell.

Gene Wiki entry for ATP2B2 Gene

Additional gene information for ATP2B2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP2B2 Gene

Genomics for ATP2B2 Gene

GeneHancer (GH) Regulatory Elements for ATP2B2 Gene

Promoters and enhancers for ATP2B2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J010506 Promoter/Enhancer 1 EPDnew dbSUPER 650.1 +202.4 202403 0.1 ZNF335 MXI1 POLR2A PRDM10 EZH2 ZBTB20 ATP2B2 GC03M010552 GC03P010614
GH03J010553 Enhancer 1.3 FANTOM5 Ensembl ENCODE 9.9 +155.7 155701 1.5 GTF2F1 PKNOX1 KLF1 USF1 SIN3A EBF1 BMI1 FOSL1 ZFHX2 POLR2A GC03M010552 ATP2B2 GC03P010614
GH03J010554 Enhancer 0.8 FANTOM5 ENCODE 9.8 +154.2 154157 1.3 PKNOX1 RFX1 BMI1 FOXA1 SP1 GATA3 ZNF341 ZNF143 GC03M010552 ATP2B2 GC03P010614
GH03J011598 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 4.6 -894.3 -894268 7.4 PKNOX1 SIN3A ZNF2 ZNF121 ATF7 FOS RUNX3 RXRA JUNB TSHZ1 PIR31694 SLC6A1 VGLL4 ATP2B2 ENSG00000271716
GH03J011588 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 4.4 -883.4 -883427 6.5 FOXA2 ARID4B FEZF1 ZNF143 RXRA REST MAFF GLIS1 RCOR2 MYNN VGLL4 HRH1 ATP2B2 SYN2 PIR31694 LOC105376952
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP2B2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATP2B2 gene promoter:
  • Bach1
  • ZID
  • ER-alpha
  • Lmo2
  • Hlf
  • AREB6
  • AML1a
  • Cart-1
  • E47
  • GATA-2

Genomic Locations for ATP2B2 Gene

Genomic Locations for ATP2B2 Gene
383,985 bases
Minus strand
384,010 bases
Minus strand

Genomic View for ATP2B2 Gene

Genes around ATP2B2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP2B2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP2B2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP2B2 Gene

Proteins for ATP2B2 Gene

  • Protein details for ATP2B2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Plasma membrane calcium-transporting ATPase 2
    Protein Accession:
    Secondary Accessions:
    • O00766
    • Q12994
    • Q16818

    Protein attributes for ATP2B2 Gene

    1243 amino acids
    Molecular mass:
    136876 Da
    Quaternary structure:
    • Interacts with PDZD11.

    Alternative splice isoforms for ATP2B2 Gene

neXtProt entry for ATP2B2 Gene

Post-translational modifications for ATP2B2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ATP2B2 Gene

Domains & Families for ATP2B2 Gene

Gene Families for ATP2B2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted membrane proteins
  • Transporters

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily.
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily.
genes like me logo Genes that share domains with ATP2B2: view

Function for ATP2B2 Gene

Molecular function for ATP2B2 Gene

UniProtKB/Swiss-Prot Function:
This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2).
GENATLAS Biochemistry:
ATPase,Ca++ transporting,B2 plasma membrane,mediating the extrusion of CA2+ from the cell

Enzyme Numbers (IUBMB) for ATP2B2 Gene

Phenotypes From GWAS Catalog for ATP2B2 Gene

Gene Ontology (GO) - Molecular Function for ATP2B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005388 calcium-transporting ATPase activity IBA,TAS --
GO:0005515 protein binding IPI 11786550
GO:0005516 calmodulin binding IEA --
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ATP2B2: view
genes like me logo Genes that share phenotypes with ATP2B2: view

Animal Models for ATP2B2 Gene

MGI Knock Outs for ATP2B2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP2B2

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATP2B2 Gene

Localization for ATP2B2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP2B2 Gene

Cell junction, synapse. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP2B2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 2
cytosol 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ATP2B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 15765049
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ATP2B2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP2B2 Gene

Pathways & Interactions for ATP2B2 Gene

genes like me logo Genes that share pathways with ATP2B2: view

Gene Ontology (GO) - Biological Process for ATP2B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport NAS,IMP 1313367
GO:0006874 cellular calcium ion homeostasis IBA --
GO:0007605 sensory perception of sound IMP 15829536
GO:0030182 neuron differentiation IDA 11259493
genes like me logo Genes that share ontologies with ATP2B2: view

No data available for SIGNOR curated interactions for ATP2B2 Gene

Drugs & Compounds for ATP2B2 Gene

(4) Drugs for ATP2B2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
Water Approved Pharma 0
Magnesium Approved Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

(2) Additional Compounds for ATP2B2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
genes like me logo Genes that share compounds with ATP2B2: view

Transcripts for ATP2B2 Gene

mRNA/cDNA for ATP2B2 Gene

Unigene Clusters for ATP2B2 Gene

ATPase, Ca++ transporting, plasma membrane 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP2B2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP2B2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP3: - - -

ExUns: 23 ^ 24 ^ 25a · 25b
SP4: - -

Relevant External Links for ATP2B2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ATP2B2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATP2B2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP2B2 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x7.1), Brain - Cerebellar Hemisphere (x6.7), Brain - Cerebellum (x6.6), Brain - Cortex (x6.6), and Brain - Anterior cingulate cortex (BA24) (x4.6).

Protein differential expression in normal tissues from HIPED for ATP2B2 Gene

This gene is overexpressed in Frontal cortex (42.1) and Brain (14.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATP2B2 Gene

Protein tissue co-expression partners for ATP2B2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATP2B2 Gene:


SOURCE GeneReport for Unigene cluster for ATP2B2 Gene:


mRNA Expression by UniProt/SwissProt for ATP2B2 Gene:

Tissue specificity: Mainly expressed in brain cortex. Found in low levels in skeletal muscle, heart muscle, stomach, liver, kidney and lung. Isoforms containing segment B are found in brain cortex and at low levels in other tissues. Isoforms containing segments X and W are found at low levels in all tissues. Isoforms containing segment A and segment Z are found at low levels in skeletal muscle and heart muscle.

Evidence on tissue expression from TISSUES for ATP2B2 Gene

  • Nervous system(4.9)
  • Muscle(4.3)
  • Liver(4.2)
  • Eye(2.3)
genes like me logo Genes that share expression patterns with ATP2B2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP2B2 Gene

Orthologs for ATP2B2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP2B2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ATP2B2 34 33
  • 97.79 (n)
(Monodelphis domestica)
Mammalia ATP2B2 34
  • 94 (a)
(Canis familiaris)
Mammalia ATP2B2 34 33
  • 93.48 (n)
(Bos Taurus)
Mammalia ATP2B2 34 33
  • 93.41 (n)
(Mus musculus)
Mammalia Atp2b2 16 34 33
  • 91.32 (n)
(Rattus norvegicus)
Mammalia Atp2b2 33
  • 90.65 (n)
(Ornithorhynchus anatinus)
Mammalia ATP2B2 34
  • 90 (a)
(Gallus gallus)
Aves ATP2B2 34 33
  • 79.75 (n)
(Anolis carolinensis)
Reptilia ATP2B2 34
  • 88 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia atp2b2 33
  • 77.93 (n)
(Danio rerio)
Actinopterygii atp2b2 34 33
  • 78.48 (n)
Dr.11302 33
fruit fly
(Drosophila melanogaster)
Insecta BEST:CK01140 35
  • 63 (a)
  • 59 (a)
(Caenorhabditis elegans)
Secernentea mca-2 34
  • 59 (a)
mca-3 34
  • 59 (a)
R05C11.3 35
  • 59 (a)
mca-1 34 35
  • 51 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL011W 33
  • 50.39 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A08910g 33
  • 48.02 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMC1 34 33
  • 47.75 (n)
(Oryza sativa)
Liliopsida Os02g0176700 33
  • 49.5 (n)
(Hordeum vulgare)
Liliopsida Hv.198 33
(Triticum aestivum)
Liliopsida Ta.4760 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 64 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU04736 33
  • 55.56 (n)
Species where no ortholog for ATP2B2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ATP2B2 Gene

Gene Tree for ATP2B2 (if available)
Gene Tree for ATP2B2 (if available)
Evolutionary constrained regions (ECRs) for ATP2B2: view image

Paralogs for ATP2B2 Gene

Paralogs for ATP2B2 Gene

(6) SIMAP similar genes for ATP2B2 Gene using alignment to 6 proteins:

  • A1X4P8_HUMAN
  • A1X4P9_HUMAN
  • H0Y7S3_HUMAN
  • L0R6D2_HUMAN
genes like me logo Genes that share paralogs with ATP2B2: view

Variants for ATP2B2 Gene

Sequence variations from dbSNP and Humsavar for ATP2B2 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs61736451 risk-factor, Deafness, autosomal recessive 12, modifier of 10,359,892(-) C/A/T coding_sequence_variant, missense_variant
rs1064795322 likely-pathogenic, not provided 10,375,477(-) C/T coding_sequence_variant, missense_variant
rs1057520233 uncertain-significance, not specified 10,342,904(-) G/A coding_sequence_variant, missense_variant
rs373192330 uncertain-significance, not specified 10,388,299(-) C/A/G/T coding_sequence_variant, missense_variant, synonymous_variant
rs777396418 uncertain-significance, not specified 10,371,841(-) C/A/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for ATP2B2 Gene

Variant ID Type Subtype PubMed ID
dgv287e215 CNV deletion 23714750
dgv762e201 CNV deletion 23290073
esv2131051 CNV deletion 18987734
esv2448735 CNV deletion 19546169
esv2504495 CNV insertion 19546169
esv2724897 CNV deletion 23290073
esv2837902 CNV deletion 24192839
esv3306138 CNV mobile element insertion 20981092
esv3359157 CNV insertion 20981092
esv3435699 CNV duplication 20981092
esv4117 OTHER complex 18987735
esv5127 CNV loss 18987735
esv7060 CNV loss 19470904
nsv1073204 CNV deletion 25765185
nsv1121603 CNV deletion 24896259
nsv1131681 CNV deletion 24896259
nsv1139089 CNV deletion 24896259
nsv436362 CNV deletion 17901297
nsv436869 CNV insertion 17901297
nsv460421 CNV loss 19166990
nsv460423 CNV loss 19166990
nsv460424 CNV loss 19166990
nsv508903 CNV insertion 20534489
nsv508904 CNV insertion 20534489
nsv512795 CNV insertion 21212237
nsv519313 CNV loss 19592680
nsv522531 CNV loss 19592680
nsv589651 CNV loss 21841781
nsv589652 CNV loss 21841781
nsv589653 CNV loss 21841781
nsv589654 CNV loss 21841781
nsv819083 CNV loss 19587683

Variation tolerance for ATP2B2 Gene

Residual Variation Intolerance Score: 0.717% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.12; 38.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP2B2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP2B2 Gene

Disorders for ATP2B2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ATP2B2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 12
  • dfnb12
chromosome 3pter-p25 deletion syndrome
  • 3p- syndrome
leber congenital amaurosis 2
  • lca2
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP2B2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ATP2B2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP2B2 Gene

Publications for ATP2B2 Gene

  1. Microdiversity of human-plasma-membrane calcium-pump isoform 2 generated by alternative RNA splicing in the N-terminal coding region. (PMID: 1313367) Heim R … Carafoli E (European journal of biochemistry 1992) 2 3 4 58
  2. Determination of the nucleotide sequence and chromosomal localization of the ATP2B2 gene encoding human Ca(2+)-pumping ATPase isoform PMCA2. (PMID: 1427863) Brandt P … Neve RL (Genomics 1992) 3 4 22 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  5. Identification of novel candidate genes for treatment response to risperidone and susceptibility for schizophrenia: integrated analysis among pharmacogenomics, mouse expression, and genetic case-control association approaches. (PMID: 19850283) Ikeda M … Iwata N (Biological psychiatry 2010) 3 44 58

Products for ATP2B2 Gene

Sources for ATP2B2 Gene

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