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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
  • EC 3.6.3.8 4 61
  • 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 3.6.3 61
  • 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 3P- Syndrome. Among its related pathways are Platelet activation, signaling and aggregation and Cardiac conduction. 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

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

Enhancers for ATP2B2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around ATP2B2 on UCSC Golden Path with GeneCards custom track

Promoters for ATP2B2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATP2B2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP2B2 Gene

Chromosome:
3
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

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:
    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

Post-translational modifications for ATP2B2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP2B2 Gene

Domains & Families for ATP2B2 Gene

Gene Families for ATP2B2 Gene

Graphical View of Domain Structure for InterPro Entry

Q01814

UniProtKB/Swiss-Prot:

AT2B2_HUMAN :
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily.
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:0005388 calcium-transporting ATPase activity TAS --
GO:0005515 protein binding IPI 11786550
GO:0005516 calmodulin binding IEA --
GO:0005524 ATP binding IEA --
GO:0030899 calcium-dependent ATPase 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

Flow Cytometry 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

COMPARTMENTS
Jensen Localization Image for ATP2B2 Gene COMPARTMENTS Subcellular localization image for ATP2B2 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 4
endoplasmic reticulum 3
cytoskeleton 1
mitochondrion 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 IEA,TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0005929 cilium IEA --
genes like me logo Genes that share ontologies with ATP2B2: view

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:0006810 transport NAS 1313367
GO:0006816 calcium ion transport IEA,IMP 17234811
GO:0006874 cellular calcium ion homeostasis IEA --
GO:0006996 organelle organization IEA --
GO:0007595 lactation IEA --
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
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
calcium Nutra 0
Magnesium Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
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

Inhibitory RNA Products

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) (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, PaxDb, 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:

ATP2B2

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 expression patterns with ATP2B2: view

Primer 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
cow
(Bos Taurus)
Mammalia ATP2B2 34
  • 93.41 (n)
  • 98.66 (a)
ATP2B2 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP2B2 34
  • 93.48 (n)
  • 99.2 (a)
ATP2B2 35
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp2b2 34
  • 91.32 (n)
  • 98.16 (a)
Atp2b2 16
Atp2b2 35
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP2B2 34
  • 97.79 (n)
  • 97.6 (a)
ATP2B2 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp2b2 34
  • 90.65 (n)
  • 98.08 (a)
oppossum
(Monodelphis domestica)
Mammalia ATP2B2 35
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP2B2 35
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP2B2 34
  • 79.75 (n)
  • 93.97 (a)
ATP2B2 35
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP2B2 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp2b2 34
  • 77.93 (n)
  • 90.02 (a)
zebrafish
(Danio rerio)
Actinopterygii atp2b2 34
  • 78.48 (n)
  • 84.83 (a)
Dr.11302 34
atp2b2 35
  • 87 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta BEST:CK01140 36
  • 63 (a)
PMCA 35
  • 59 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mca-1 36
  • 54 (a)
R05C11.3 36
  • 59 (a)
mca-1 35
  • 51 (a)
ManyToMany
mca-2 35
  • 59 (a)
ManyToMany
mca-3 35
  • 59 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL011W 34
  • 50.39 (n)
  • 42.78 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A08910g 34
  • 48.02 (n)
  • 44.59 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMC1 34
  • 47.75 (n)
  • 43.05 (a)
PMC1 35
  • 35 (a)
OneToMany
barley
(Hordeum vulgare)
Liliopsida Hv.198 34
rice
(Oryza sativa)
Liliopsida Os02g0176700 34
  • 49.5 (n)
  • 44.94 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.4760 34
bread mold
(Neurospora crassa)
Ascomycetes NCU04736 34
  • 55.56 (n)
  • 47.52 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 64 (a)
OneToMany
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

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

Paralogs for ATP2B2 Gene

Paralogs for ATP2B2 Gene

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
rs873080 -- 10,633,296(+) CCTCC(A/G)CTTCC intron-variant
rs873583 -- 10,485,989(-) CCCCT(C/G/T)GGCCC intron-variant
rs878210 -- 10,385,407(+) ACTTG(C/T)GGGGA intron-variant
rs878211 -- 10,385,550(+) TTCAA(A/G)TAAAG intron-variant
rs879594 -- 10,635,511(-) GATGG(A/G)CTTTA intron-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)

Relevant External Links for ATP2B2 Gene

Human Gene Mutation Database (HGMD)
ATP2B2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP2B2

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

Disorders for ATP2B2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ATP2B2 Gene - From: OMIM, Orphanet, DISEASES, and GeneCards

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

Relevant External Links for ATP2B2

Genetic Association Database (GAD)
ATP2B2
Human Genome Epidemiology (HuGE) Navigator
ATP2B2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP2B2
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. (Eur. J. Biochem. 1992) 2 3 4 65
  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 R.L. (Genomics 1992) 3 4 22 65
  3. 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 46 65
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65
  5. 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 S.D. … Anand S. (Diabetes Care 2010) 3 46 65

Products for ATP2B2 Gene

Sources for ATP2B2 Gene

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