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 plas... See more...

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 4
  • PMCA2 2 3 4
  • ATPase, Ca++ Transporting, Plasma Membrane 2 2 3
  • Plasma Membrane Ca2+ Pump 2 2 3
  • 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 7.2.2.10 4
  • EC 3.6.3.8 51
  • EC 3.6.3 51
  • PMCA2a 3
  • PMCA2i 3
  • ATP2B2 5

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 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Calcium signaling pathway. 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 Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP2B2 Gene

Genomics for ATP2B2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP2B2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
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 1.3 EPDnew Ensembl dbSUPER 600.1 +202.4 202406 0.8 PRDM10 POLR2A PATZ1 ZBTB20 RAD21 ZBTB10 BCL11A EZH2 ZNF335 HNF4A ATP2B2 TATDN2 EMC3-AS1 OGG1 piR-61101-476 MIR885 SEC13
GH03J010707 Promoter 0.7 Ensembl 600.7 +0.0 7 0.8 PRDM10 EZH2 RAD21 CTCF ZBTB48 ZBTB26 ZNF335 GLIS1 ZNF398 GLIS2 ATP2B2 ENSG00000206567 lnc-ATP2B2-1-001 piR-37972-491 SEC13
GH03J010550 Enhancer 1.2 FANTOM5 Ensembl ENCODE 9.9 +156.6 156606 6.8 CREB1 RFX1 TARDBP JUND FOXA1 PKNOX1 POLR2A GTF2F1 ZNF341 FOXJ2 HSALNG0024114 ATP2B2 piR-61101-476 SEC13
GH03J011597 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5 -893.2 -893215 7.6 SP1 ZBTB33 TEAD4 ZNF629 RFX1 POLR2A FOXA1 ZIC2 IKZF2 ZNF600 piR-30695 ENSG00000271716 SLC6A1 ATP2B2 VGLL4 piR-48209-507 lnc-TAMM41-4 ATG7
GH03J011606 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 4.9 -901.5 -901496 5.1 HNRNPL GATAD2A LEF1 JUND HDAC1 SOX6 CEBPA EP300 SOX13 TCF7 ENSG00000271716 ATP2B2 VGLL4 ENSG00000272483 lnc-TAMM41-4 ATG7
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP2B2

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

Genomic Locations for ATP2B2 Gene

Genomic Locations for ATP2B2 Gene
chr3:10,324,023-10,708,007
(GRCh38/hg38)
Size:
383,985 bases
Orientation:
Minus strand
chr3:10,365,707-10,749,716
(GRCh37/hg19)
Size:
384,010 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

Selected DME Specific Peptides for ATP2B2 Gene

Q01814:
  • FRMYSKGASEI
  • DDNFSSIV
  • IPLIDDTD
  • VTAVGVNS
  • ELRSLMELRGTEAVVK
  • SSLTGES
  • DKTGTLTTN
  • IFCTIVLGTF
  • VRMVTGDNINTA
  • YKEIPDP
  • DKDPMLLSGTHVMEGSGRM
  • QILWFRGLNRIQTQ
  • VTISLAYSV
  • KDNNLVRHL
  • LWVNLIMDT
  • PYGRNKPLISRTMMKNILGHA
  • ISLGLSFYHPPGE
  • EQERIDK
  • LAVQIGKAGL
  • LYKVYTF
  • HPEFRIEDS
  • IPPKKPKTFL
  • MQLFNEINARKIHGERNVF
  • EASDIIL
  • LALATEPPT
  • DKTGTLT
  • PGEDFLCLEGK
  • VTAFNDWSKEKQFRGLQSRIE
  • APLHSPPS
  • KILPPEKEG
  • LRVLARSSPTDKHTLVKGIIDS
  • QFQLTVN
  • AGITVRMVTG
  • QYFVKFFIIG
  • GWIEGAAIL
  • IRNEKGE
  • VGDIAQVKYGDLLPADG
  • GTDVAKEA
  • VGNKTEC
  • AFRSSLYEGLEKPE
  • IDSGRNAPLH
  • TQKEEIPEEEL
  • NINTARAIA
  • NSQTGIIFTLLGA
  • NRMTVVQ
  • VTGDGTND
  • IEPMACDGLRTIC
  • TIIFNTFV
  • KCQRAGITV
  • VWEALQD
  • MSAITVIILVLYF
  • GVTVLVV
  • EPDWDNEN
  • MEMQPLKS
  • RIEQEQKF
  • SVRKSMSTV
  • KPLISRTMMKNILGHAVYQL
  • DESSLTGE
  • IVQFGGKPFSCS
  • VVGIEDPVRPEVP
  • HAERELRR
  • AVPEGLPL

Post-translational modifications for ATP2B2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ATP2B2 Gene

Gene Families for ATP2B2 Gene

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

Protein Domains for ATP2B2 Gene

Suggested Antigen Peptide Sequences for ATP2B2 Gene

GenScript: Design optimal peptide antigens:
  • PMCA2a (A1X4P8_HUMAN)
  • PMCA2i (A1X4P9_HUMAN)
  • ATPase, Ca++ transporting, plasma membrane 2 (A2VBC8_HUMAN)
  • Plasma membrane calcium pump isoform 2 (AT2B2_HUMAN)
  • PMCA2 (Q4J696_HUMAN)

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

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:
Reaction=ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate; Xref=Rhea:RHEA:18105, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29108, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=7.2.2.10;.
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:0000166 nucleotide binding IEA --
GO:0005388 calcium-transporting ATPase activity IBA,NAS 1313367
GO:0005515 protein binding IPI 11786550
GO:0005516 calmodulin binding IEA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with ATP2B2: view
genes like me logo Genes that share phenotypes with ATP2B2: view

Human Phenotype Ontology for ATP2B2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

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

No data available for 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
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 4
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ATP2B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IDA 15765049
GO:0005886 plasma membrane TAS --
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

Pathways by source for ATP2B2 Gene

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 IMP,NAS 1313367
GO:0006874 cellular calcium ion homeostasis IBA 21873635
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

(6) Drugs for ATP2B2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Desflurane Approved Pharma Target, inhibitor 209
Halothane Approved, Vet_approved Pharma Activator, Inhibitor, Target, inhibitor 3
Magnesium Approved, Experimental, Investigational Pharma 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with ATP2B2: view

Transcripts for ATP2B2 Gene

mRNA/cDNA for ATP2B2 Gene

5 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

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

Expression for ATP2B2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for ATP2B2 Gene

  • Nervous system(4.9)
  • Muscle(4.5)
  • Liver(4.4)
  • Eye(2.6)
  • Heart(2.3)
  • Adrenal gland(2.1)
  • Kidney(2.1)
  • Blood(2)
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
Chimpanzee
(Pan troglodytes)
Mammalia ATP2B2 30 31
  • 97.79 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ATP2B2 31
  • 94 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ATP2B2 30 31
  • 93.48 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATP2B2 30 31
  • 93.41 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Atp2b2 30 17 31
  • 91.32 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atp2b2 30
  • 90.65 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ATP2B2 31
  • 90 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ATP2B2 30 31
  • 79.75 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATP2B2 31
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atp2b2 30
  • 77.93 (n)
Zebrafish
(Danio rerio)
Actinopterygii atp2b2 30 31
  • 78.48 (n)
OneToOne
Dr.11302 30
Fruit Fly
(Drosophila melanogaster)
Insecta BEST:CK01140 32
  • 63 (a)
PMCA 31
  • 59 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea mca-2 31
  • 59 (a)
ManyToMany
mca-3 31
  • 59 (a)
ManyToMany
R05C11.3 32
  • 59 (a)
mca-1 31 32
  • 51 (a)
ManyToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFL011W 30
  • 50.39 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A08910g 30
  • 48.02 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMC1 30 31
  • 47.75 (n)
OneToMany
Rice
(Oryza sativa)
Liliopsida Os02g0176700 30
  • 49.5 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.198 30
Wheat
(Triticum aestivum)
Liliopsida Ta.4760 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 64 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU04736 30
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ATP2B2: view image

Paralogs for ATP2B2 Gene

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

  • AT2B2_HUMAN
  • A1X4P8_HUMAN
  • A1X4P9_HUMAN
  • A2VBC8_HUMAN
  • H0Y7S3_HUMAN
  • L0R6D2_HUMAN
genes like me logo Genes that share paralogs with ATP2B2: view

Variants for ATP2B2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP2B2 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
708678 Benign: not provided 10,410,682(-) C/A SYNONYMOUS_VARIANT
710915 Benign: not provided 10,338,242(-) G/A SYNONYMOUS_VARIANT
713342 Likely Benign: not provided 10,359,934(-) C/T MISSENSE_VARIANT
737873 Likely Benign: not provided 10,371,830(-) G/A SYNONYMOUS_VARIANT
738375 Likely Benign: not provided 10,360,070(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ATP2B2 Gene

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)
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

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

Disorder Aliases PubMed IDs
deafness, autosomal recessive 12
  • dfnb12
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
hereditary hearing loss and deafness
stormorken syndrome
  • strmk
autosomal dominant nonsyndromic deafness
  • autosomal dominant deafness
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP2B2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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. 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 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 (European journal of biochemistry 1992) 2 3 4
  3. 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 41
  4. 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 41
  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 41

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