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Aliases for ATP2B2 Gene

Aliases for ATP2B2 Gene

  • ATPase, Ca++ Transporting, Plasma Membrane 2 2 3
  • PMCA2 3 4 6
  • Plasma Membrane Calcium-Transporting ATPase 2 2 3
  • Plasma Membrane Ca2+ Pump 2 2 3
  • EC 3.6.3.8 4 63
  • 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 3.6.3 63
  • 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, Ca++ Transporting, Plasma Membrane 2) is a Protein Coding gene. Diseases associated with ATP2B2 include deafness, autosomal recessive 12. Among its related pathways are CREB Pathway and Platelet homeostasis. GO annotations related to this gene include calcium ion binding and protein C-terminus 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

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

Genomics for ATP2B2 Gene

Regulatory Elements for ATP2B2 Gene

Genomic Location for ATP2B2 Gene

Start:
10,324,023 bp from pter
End:
10,708,031 bp from pter
Size:
384,009 bases
Orientation:
Minus strand

Genomic View for ATP2B2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q01814-AT2B2_HUMAN
    Recommended name:
    Plasma membrane calcium-transporting ATPase 2
    Protein Accession:
    Q01814
    Secondary Accessions:
    • O00766
    • Q12994
    • Q16818

    Protein attributes for ATP2B2 Gene

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

    Alternative splice isoforms for ATP2B2 Gene

neXtProt entry for ATP2B2 Gene

Proteomics data for ATP2B2 Gene at MOPED

Post-translational modifications for ATP2B2 Gene

  • Ubiquitination at Lys829 and Lys1157
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP2B2 Gene

Domains for ATP2B2 Gene

Gene Families for ATP2B2 Gene

HGNC:
  • PATP :ATPases / P-type
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

Q01814

UniProtKB/Swiss-Prot:

AT2B2_HUMAN :
  • Q01814
Family:
  • 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

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

Enzyme Numbers (IUBMB) for ATP2B2 Gene

Gene Ontology (GO) - Molecular Function for ATP2B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding --
GO:0005388 calcium-transporting ATPase activity NAS 1313367
GO:0005509 calcium ion binding IDA 7929331
GO:0005515 protein binding IPI 11274188
GO:0005516 calmodulin binding 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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP2B2

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for ATP2B2 Gene COMPARTMENTS Subcellular localization image for ATP2B2 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 2
cytoskeleton 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ATP2B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 15765049
GO:0005783 endoplasmic reticulum IEA --
GO:0005886 plasma membrane TAS --
GO:0005929 cilium IEA --
GO:0016020 membrane --
genes like me logo Genes that share ontologies with ATP2B2: view

Pathways for ATP2B2 Gene

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

PCR Array Products

Gene Ontology (GO) - Biological Process for ATP2B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis --
GO:0006200 obsolete ATP catabolic process --
GO:0006810 transport NAS 1313367
GO:0006816 calcium ion transport IMP 17234811
GO:0006874 cellular calcium ion homeostasis --
genes like me logo Genes that share ontologies with ATP2B2: view

Compounds for ATP2B2 Gene

(6) HMDB Compounds for ATP2B2 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Calcium
  • Ca
7440-70-2
Magnesium
  • Magnesium
7439-95-4
Phosphate
  • NFB Orthophosphate
14265-44-2

(1) Novoseek inferred chemical compound relationships for ATP2B2 Gene

Compound -log(P) Hits PubMed IDs
calcium 41.7 9
genes like me logo Genes that share compounds with ATP2B2: view

Transcripts for ATP2B2 Gene

Unigene Clusters for ATP2B2 Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP2B2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ATP2B2

Flow Cytometry 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 ^
SP1:
SP2:
SP3: - - -
SP4:
SP5:
SP6:
SP7:
SP8:

ExUns: 23 ^ 24 ^ 25a · 25b
SP1:
SP2:
SP3:
SP4: - -
SP5:
SP6:
SP7:
SP8:

Relevant External Links for ATP2B2 Gene

GeneLoc Exon Structure for
ATP2B2
ECgene alternative splicing isoforms for
ATP2B2

Expression for ATP2B2 Gene

mRNA expression in normal human tissues 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) (7.1), Brain - Cerebellar Hemisphere (6.7), Brain - Cerebellum (6.6), Brain - Cortex (6.6), and Brain - Anterior cingulate cortex (BA24) (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP2B2 Gene

SOURCE GeneReport for Unigene cluster for ATP2B2 Gene Hs.268942

mRNA Expression by UniProt/SwissProt for ATP2B2 Gene

Q01814-AT2B2_HUMAN
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
genes like me logo Genes that share expressions with ATP2B2: view

In Situ Assay Products

Orthologs for ATP2B2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP2B2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP2B2 35
  • 97.79 (n)
  • 97.6 (a)
ATP2B2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATP2B2 35
  • 93.41 (n)
  • 98.66 (a)
ATP2B2 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP2B2 35
  • 93.48 (n)
  • 99.2 (a)
ATP2B2 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp2b2 35
  • 91.32 (n)
  • 98.16 (a)
Atp2b2 16
Atp2b2 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP2B2 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP2B2 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp2b2 35
  • 90.65 (n)
  • 98.08 (a)
chicken
(Gallus gallus)
Aves ATP2B2 35
  • 79.75 (n)
  • 93.97 (a)
ATP2B2 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP2B2 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp2b2 35
  • 77.93 (n)
  • 90.02 (a)
zebrafish
(Danio rerio)
Actinopterygii atp2b2 35
  • 78.48 (n)
  • 84.83 (a)
atp2b2 36
  • 87 (a)
OneToOne
Dr.11302 35
fruit fly
(Drosophila melanogaster)
Insecta PMCA 36
  • 59 (a)
OneToMany
BEST:CK01140 37
  • 63 (a)
worm
(Caenorhabditis elegans)
Secernentea mca-1 36
  • 51 (a)
ManyToMany
mca-2 36
  • 59 (a)
ManyToMany
mca-3 36
  • 59 (a)
ManyToMany
mca-1 37
  • 54 (a)
R05C11.3 37
  • 59 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL011W 35
  • 50.39 (n)
  • 42.78 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMC1 35
  • 47.75 (n)
  • 43.05 (a)
PMC1 36
  • 35 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A08910g 35
  • 48.02 (n)
  • 44.59 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.198 35
rice
(Oryza sativa)
Liliopsida Os02g0176700 35
  • 49.5 (n)
  • 44.94 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.4760 35
bread mold
(Neurospora crassa)
Ascomycetes NCU04736 35
  • 55.56 (n)
  • 47.52 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 64 (a)
OneToMany
Species with no ortholog for ATP2B2:
  • 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

ENSEMBL:
Gene Tree for ATP2B2 (if available)
TreeFam:
Gene Tree for ATP2B2 (if available)

Paralogs for ATP2B2 Gene

Paralogs for ATP2B2 Gene

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

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 Sequence Context AA Info Type MAF
rs2165 -- 10,500,539(+) agcag(A/C)ggaga intron-variant
rs3776 -- 10,324,119(+) ATACA(C/G)AGAAA utr-variant-3-prime
rs14154 -- 10,326,429(+) ACATG(C/G)AGCAT utr-variant-3-prime
rs26310 -- 10,331,156(+) GCCTT(C/T)ATGCT intron-variant
rs26313 -- 10,334,483(+) CTCTC(C/T)GGTCT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv809e201 CNV Deletion 23290073
nsv436362 CNV Deletion 17901297
nsv436869 CNV Insertion 17901297
esv4117 CNV Complex 18987735
nsv508903 CNV Insertion 20534489
nsv819083 CNV Loss 19587683
esv2448735 CNV Deletion 19546169
nsv876527 CNV Loss 21882294
esv2131051 CNV Deletion 18987734
esv5127 CNV Deletion 18987735
esv2724897 CNV Deletion 23290073
esv7060 CNV Loss 19470904
nsv522531 CNV Loss 19592680
esv2504495 CNV Insertion 19546169
nsv512795 CNV Insertion 21212237
nsv876528 CNV Gain 21882294
nsv460421 CNV Loss 19166990
nsv508904 CNV Insertion 20534489
nsv876529 CNV Loss 21882294
nsv460423 CNV Loss 19166990
esv270415 CNV Insertion 20981092
nsv460424 CNV Loss 19166990
nsv519313 CNV Loss 19592680

Relevant External Links for ATP2B2 Gene

HapMap Linkage Disequilibrium report
ATP2B2
Human Gene Mutation Database (HGMD)
ATP2B2

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

Disorders for ATP2B2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for ATP2B2 Gene including...

Search for ATP2B2 Gene in MalaCards »

(1) OMIM Diseases for ATP2B2 Gene (108733)

Relevant External Links for ATP2B2

Genetic Association Database (GAD)
ATP2B2
Human Genome Epidemiology (HuGE) Navigator
ATP2B2
genes like me logo Genes that share disorders with ATP2B2: view

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

Publications for ATP2B2 Gene

  1. 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 R.L. (Genomics 1992) 3 4 23
  2. 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. (Eur. J. Biochem. 1992) 2 3 4
  3. Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes. (PMID: 7989379) Stauffer T.P. … Strehler E.E. (J. Biol. Chem. 1994) 3 4
  4. 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. (Biol. Psychiatry 2010) 3 48
  5. Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum. (PMID: 19043545) Gieger C. … Suhre K. (PLoS Genet. 2008) 3 48

Products for ATP2B2 Gene

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