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ATP2B2 Gene

protein-coding   GIFtS: 66
GCID: GC03M010365

ATPase, Ca++ Transporting, Plasma Membrane 2

  See ATP2B2-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ATPase, Ca++ Transporting, Plasma Membrane 21 2     Plasma Membrane Ca(2+)-ATPase2
PMCA22 3 5     Plasma Membrane Calcium ATPase2
Plasma Membrane Ca2+ Pump 21 2     Plasma Membrane Calcium Pump2
Plasma Membrane Calcium-Transporting ATPase 21 2     Plasma Membrane Calcium ATPase Isoform 23
EC 3.6.3.83 8     Plasma Membrane Calcium Pump Isoform 23
PMCA2a2     EC 3.6.38
PMCA2i2     

External Ids:    HGNC: 8151   Entrez Gene: 4912   Ensembl: ENSG000001570877   OMIM: 1087335   UniProtKB: Q018143   

Export aliases for ATP2B2 gene to outside databases

Previous GC identifers: GC03M010298 GC03M010344 GC03M010342


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, modifier of. GO annotations related to this gene include protein C-terminus binding and calcium ion binding. An important paralog of this gene is ATP2B1.

UniProtKB/Swiss-Prot: AT2B2_HUMAN, Q01814
Function: 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP2B2 gene promoter:
         ER-alpha   Bach1   AML1a   Lmo2   GATA-2   E47   AREB6   Cart-1   ZID   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP2B2 promoter sequence
   Search Chromatin IP Primers for ATP2B2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP2B2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p25.3   Ensembl cytogenetic band:  3p25.3   HGNC cytogenetic band: 3p25.3

ATP2B2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP2B2 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M010365:  view genomic region     (about GC identifiers)

Start:
10,365,707 bp from pter      End:
10,749,716 bp from pter
Size:
384,010 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AT2B2_HUMAN, Q01814 (See protein sequence)
Recommended Name: Plasma membrane calcium-transporting ATPase 2  
Size: 1243 amino acids; 136876 Da
Subunit: Interacts with PDZD11
Secondary accessions: O00766 Q12994 Q16818
Alternative splicing: 8 isoforms:  Q01814-1   Q01814-2   Q01814-3   Q01814-4   Q01814-5   Q01814-6   Q01814-7   Q01814-8   
(Contains a phosphoserine at position 1146)

Explore the universe of human proteins at neXtProt for ATP2B2: NX_Q01814

Explore proteomics data for ATP2B2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys829, Lys1157
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ATP2B2 (Q01814) (see all 62)
     QFQLTVN  SSLTGES  IRNEKGE  VGNKTEC 


    See ATP2B2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001001331.1  NP_001674.2  

    ENSEMBL proteins: 
     ENSP00000324172   ENSP00000373311   ENSP00000424494   ENSP00000380267   ENSP00000414854  
     ENSP00000353414   ENSP00000344677  
    Reactome Protein details: Q01814

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PATP: ATPases / P-type

    IUPHAR Guide to PHARMACOLOGY protein family classification: PMCA2
    Ca2+-ATPases

    Selected InterPro protein domains (see all 10):
     IPR023298 ATPase_P-typ_TM_dom
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR006408 ATPase_P-typ_Ca-transp_plasma
     IPR023214 HAD-like_dom
     IPR004014 ATPase_P-typ_cation-transptr_N

    Graphical View of Domain Structure for InterPro Entry Q01814

    ProtoNet protein and cluster: Q01814

    3 Blocks protein domains:
    IPB001757 ATPase
    IPB006068 Cation transporting ATPase
    IPB008250 E1-E2 ATPase-associated region


    UniProtKB/Swiss-Prot: AT2B2_HUMAN, Q01814
    Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily


    Find genes that share domains with ATP2B2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AT2B2_HUMAN, Q01814
    Function: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium
    out of the cell
    Catalytic activity: ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2)

         Genatlas biochemistry entry for ATP2B2:
    ATPase,Ca++ transporting,B2 plasma membrane,mediating the extrusion of CA2+ from the cell

         Enzyme Numbers (IUBMB): EC 3.6.3.81 2 EC 3.6.32

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005388calcium-transporting ATPase activity NAS1313367
    GO:0005509calcium ion binding IDA7929331
    GO:0005515protein binding IPI11274188
    GO:0005516calmodulin binding IEA--
         
    Find genes that share ontologies with ATP2B2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ATP2B2:
     Increased gamma-H2AX phosphory 

         8 MGI mutant phenotypes (inferred from 13 alleles(MGI details for Atp2b2):
     behavior/neurological  cellular  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism 
     nervous system  no phenotypic analysis  reproductive system 

    Find genes that share phenotypes with ATP2B2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Atp2b2tm1Ges for ATP2B2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATP2B2
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    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ATP2B2 (see all 150):
    hsa-miR-520f hsa-miR-106a hsa-miR-605 hsa-miR-134 hsa-miR-3622b-3p hsa-miR-3116 hsa-miR-130b hsa-miR-520b
    SwitchGear 3'UTR luciferase reporter plasmidATP2B2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ATP2B2
    Predesigned siRNA for gene silencing in human, mouse, rat ATP2B2

    Gene Editing
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP2B2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AT2B2_HUMAN, Q01814: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum2
    cytoskeleton1
    cytosol1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA15765049
    GO:0005783endoplasmic reticulum IEA--
    GO:0005886plasma membrane TAS--
    GO:0005929cilium IEA--
    GO:0016020membrane ----

    Find genes that share ontologies with ATP2B2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ATP2B2 About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Platelet homeostasis
    Platelet homeostasis
    Platelet calcium homeostasis0.00
    Reduction of cytosolic Ca++ levels0.00
    2Ion channel transport
    Ion channel transport0.58
    3CREB Pathway
    Intracellular Calcium Signaling0.50
    4Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    5Hemostasis
    Hemostasis0.43


    Find genes that share SuperPaths with ATP2B2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for ATP2B2
        Intracellular Calcium Signaling

    1 BioSystems Pathway for ATP2B2
        Calcium Regulation in the Cardiac Cell

    2 Reactome Pathways for ATP2B2
        Ion transport by P-type ATPases
    Reduction of cytosolic Ca++ levels


    4 Kegg Pathways  (Kegg details for ATP2B2):
        Calcium signaling pathway
    Adrenergic signaling in cardiomyocytes
    Salivary secretion
    Pancreatic secretion

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ATP2B2: 
              Parkinson's Disease in human mouse rat
              Huntington's Disease in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ATP2B2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ATP2B2 (Q018141, 2, 3 ENSP000003241724) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALCAP012581, 2, 3, ENSP000003317464EBI-1174243,EBI-1018474 MINT-5204027 MINT-5203983 I2D: score=1 STRING: ENSP00000331746
    DLG1Q129592, 3, ENSP000003457314MINT-73072 I2D: score=2 STRING: ENSP00000345731
    YWHAEP622582, 3, ENSP000002643354MINT-8007186 I2D: score=1 STRING: ENSP00000264335
    DLG2Q157002, 3, ENSP000003652724MINT-73081 I2D: score=3 STRING: ENSP00000365272
    DLG3Q927963, ENSP000003634804I2D: score=1 STRING: ENSP00000363480
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 34):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000902cell morphogenesis ----
    GO:0006810transport NAS1313367
    GO:0006812cation transport ----
    GO:0006816calcium ion transport IMP17234811
    GO:0006874cellular calcium ion homeostasis ----

    Find genes that share ontologies with ATP2B2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ATP2B2 (AT2B2)

    6 HMDB Compounds for ATP2B2    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    CalciumCa (see all 2)7440-70-2--
    MagnesiumMagnesium (see all 2)7439-95-4--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 Novoseek inferred chemical compound relationship for ATP2B2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 41.7 14 19365819 (2), 17208398 (1), 7587388 (1), 17999165 (1) (see all 8)



    Find genes that share compounds with ATP2B2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ATP2B2 gene (2 alternative transcripts): 
    NM_001001331.2  NM_001683.3  

    Unigene Cluster for ATP2B2:

    ATPase, Ca++ transporting, plasma membrane 2
    Hs.268942  [show with all ESTs]
    Unigene Representative Sequence: NM_001001331
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000352432(uc010hdo.3) ENST00000383800(uc003bvv.3) ENST00000460129(uc003bvs.3)
    ENST00000397077(uc003bvw.3) ENST00000452124 ENST00000467702 ENST00000468426
    ENST00000480680(uc010hdp.2) ENST00000360273(uc003bvt.3) ENST00000343816

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    hsa-miR-520f hsa-miR-106a hsa-miR-605 hsa-miR-134 hsa-miR-3622b-3p hsa-miR-3116 hsa-miR-130b hsa-miR-520b
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      QuantiFast Probe-based Assays in human, mouse, rat ATP2B2

    Additional mRNA sequence: 

    AB210008.1 AK308898.1 BC019853.1 BC128575.1 DQ201777.1 DQ201778.1 L00620.1 L20977.1 
    M97260.1 S95738.1 S95743.1 S95758.1 U15688.1 X63575.1 

    10 DOTS entries:

    DT.442590  DT.100746837  DT.101979735  DT.100746836  DT.120861250  DT.40125280  DT.91649950  DT.91725839 
    DT.92416395  DT.97835031 

    Selected AceView cDNA sequences (see all 107):

    BQ718882 NM_001683 BX489007 NM_001001331 Z98483 AA363898 T07949 CB156994 
    AI459315 T28048 F07516 BF108567 CK004891 CK023951 AV657450 AL133690 
    CD612471 AL134595 BM703954 AL134596 M97260 AI080673 BX281801 AA984826 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ATP2B2 (see all 8)    About this scheme

    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:                                                                                                                                                            

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


    ECgene alternative splicing isoforms for ATP2B2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ATP2B2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGTACGTTT
    ATP2B2 Expression
    About this image


    ATP2B2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    ATP2B2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP2B2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.268942

    UniProtKB/Swiss-Prot: AT2B2_HUMAN, Q01814
    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ATP2B2: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATP2B2 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp2b21 , 5 ATPase, Ca++ transporting, plasma membrane 21, 5 91.32(n)1
    98.16(a)1
      6 (52.85 cM)5
    119411  NM_009723.51  NP_033853.11 
     1137456695 
    chicken
    (Gallus gallus)
    Aves ATP2B21 ATPase, Ca++ transporting, plasma membrane 2 79.75(n)
    93.97(a)
      415958  XM_001231641.3  XP_001231642.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP2B26
    ATPase, Ca++ transporting, plasma membrane 2
    88(a)
    1 ↔ 1
    2(156765311-157098641)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia atp2b21 ATPase, Ca++ transporting, plasma membrane 2 77.93(n)
    90.02(a)
      100487776  XM_002934230.2  XP_002934276.2 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.113022 Transcribed sequence with moderate similarity to protein more 82.96(n)    BI842552.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta BEST:CK011403 calcium-transporting ATPase 63(a)   102B5   --
    worm
    (Caenorhabditis elegans)
    Secernentea R05C11.33 ATPase 59(a)
    (best of 2)
      IV(2084056-2091420)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PMC11 PMC1 47.75(n)
    43.05(a)
      852878   NP_011509.1 
    rice
    (Oryza sativa)
    Liliopsida AK066259.12   -- 70.74(n)    AK066259.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATP2B2 gene
    ATP2B12  ATP2B32  ATP2B42  
    6 SIMAP similar genes for ATP2B2 using alignment to 6 protein entries:     AT2B2_HUMAN (see all proteins):
    ATP2B2 variant protein    PMCA2    ATP2B1    DKFZp686M088    ATP2B3    ATP2B4

    Find genes that share paralogs with ATP2B2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ATP2B2 (see all 4138)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs617364511,2
    C,Fpathogenic110336463(+) GAGCAC/TGATCT 4 M V mis13Minor allele frequency- T:0.00NS NA EU 5953
    rs1444408841,2
    C--10300127(+) GCAGA-/GGTTTGTGAAG
    TCCAGACTCCTCAG
    GTGCC
    2 -- ds50010--------
    rs748019751,2
    C--10300176(+) CTTACC/TCCTCT 2 -- ds50010--------
    rs1176340501,2
    C,F--10300224(+) ATTCCG/CCATCT 2 -- ds50011Minor allele frequency- C:0.03EA 120
    rs589496551,2
    C,F--10300285(+) TTGCCC/ACCCCA 2 -- ds50014Minor allele frequency- A:0.07WA NA EA 360
    rs1386909821,2
    --10300289(+) CCCCCA/CACCCC 2 -- ds50010--------
    rs1426963751,2
    C--10300449(+) GGAAGA/GAGAGA 2 -- ds50010--------
    rs37761,2
    C,F--10300688(+) ATACAG/CAGAAA 2 -- ut31 ese37Minor allele frequency- C:0.08MN NA WA 438
    rs760017721,2
    C,F--10300699(+) TAAAGA/GGTGTA 2 -- ut311Minor allele frequency- G:0.10WA 118
    rs1810588001,2
    --10300701(+) AAGAGC/TGTACA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for ATP2B2 (10365707 - 10615707 bp, first 250kb of ATP2B2)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ATP2B2 (see all 23):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2448735CNV Deletion19546169
    dgv809e201CNV Deletion23290073
    esv2724897CNV Deletion23290073
    nsv436362CNV Deletion17901297
    esv2131051CNV Deletion18987734
    esv5127CNV Deletion18987735
    esv2504495CNV Insertion19546169
    nsv512795CNV Insertion21212237
    nsv508903CNV Insertion20534489
    nsv508904CNV Insertion20534489

    Human Gene Mutation Database (HGMD): ATP2B2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP2B2
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP2B2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 108733   
    OMIM disorders: 601386  
    1 disease for ATP2B2:    
    About MalaCards
    deafness, autosomal recessive 12, modifier of


    Find genes that share disorders with ATP2B2           About GenesLikeMe

    Genetic Association Database (GAD): ATP2B2
    Human Genome Epidemiology (HuGE) Navigator: ATP2B2 (6 documents)

    Export disorders for ATP2B2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ATP2B2 gene, integrated from 10 sources (see all 69):
    (articles sorted by number of sources associating them with ATP2B2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Microdiversity of human-plasma-membrane calcium-pump isoform 2 generated by alternative RNA splicing in the N-terminal coding region. (PubMed id 1313367)1, 2, 3 Heim R.... Carafoli E. (Eur. J. Biochem. 1992)
    2. Determination of the nucleotide sequence and chromosomal localization of the ATP2B2 gene encoding human Ca(2+)-pumping ATPase isoform PMCA2. (PubMed id 1427863)1, 2, 9 Brandt P.... Neve R.L. (Genomics 1992)
    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. (PubMed id 19850283)1, 4 Ikeda M....Iwata N. (Biol. Psychiatry 2010)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    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. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum. (PubMed id 19043545)1, 4 Gieger C....Suhre K. (PLoS Genet. 2008)
    7. Characterization of PISP, a novel single-PDZ protein that binds to all plasma membrane Ca2+-ATPase b-splice variants. (PubMed id 12763866)1, 2 Goellner G.M.... Strehler E.E. (Ann. N. Y. Acad. Sci. 2003)
    8. Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes. (PubMed id 7989379)1, 2 Stauffer T.P....Strehler E.E. (J. Biol. Chem. 1994)
    9. von Hippel-Lindau syndrome: cloning and identification of the plasma membrane Ca(++)-transporting ATPase isoform 2 gene that resides in the von Hippel-Lindau gene region. (PubMed id 8428366)1, 2 Latif F.... Lerman M.I. (Cancer Res. 1993)
    10. Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes. (PubMed id 8245032)1, 2 Stauffer T.P.... Strehler E.E. (J. Biol. Chem. 1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 491 HGNC: 815 AceView: ATP2B2 Ensembl:ENSG00000157087 euGenes: HUgn491
    ECgene: ATP2B2 Kegg: 491 H-InvDB: ATP2B2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ATP2B2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ATP2B2 gene:
    Search GeneIP for patents involving ATP2B2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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