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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATP2B3 Gene

protein-coding   GIFtS: 68
GCID: GC0XP152783

ATPase, Ca++ Transporting, Plasma Membrane 3

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
ATPase, Ca++ Transporting, Plasma Membrane 31 2     Plasma Membrane Calcium ATPase2
PMCA32 3 5     Plasma Membrane Calcium Pump2
Plasma Membrane Calcium-Transporting ATPase 31 2     Plasma Membrane Calcium ATPase Isoform 33
EC 3.6.3.83 8     Plasma Membrane Calcium Pump Isoform 33
PMCA3a2     EC 3.6.38
SCAX12     

External Ids:    HGNC: 8161   Entrez Gene: 4922   Ensembl: ENSG000000678427   OMIM: 3000145   UniProtKB: Q167203   

Export aliases for ATP2B3 gene to outside databases

Previous GC identifers: GC0XP146939 GC0XP149256 GC0XP150387 GC0XP151269 GC0XP152322 GC0XP152436 GC0XP141461


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ATP2B3 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 3. Alternatively
spliced transcript variants encoding different isoforms have been identified. (provided by RefSeq, Jul 2008)

GeneCards Summary for ATP2B3 Gene: 
ATP2B3 (ATPase, Ca++ transporting, plasma membrane 3) is a protein-coding gene. Diseases associated with ATP2B3 include x-linked non progressive cerebellar ataxia, and succinic semialdehyde dehydrogenase deficiency, and among its related super-pathways are Platelet calcium homeostasis and Ion channel transport. GO annotations related to this gene include calcium-transporting ATPase activity and calmodulin binding. An important paralog of this gene is ATP2B1.

UniProtKB/Swiss-Prot: AT2B3_HUMAN, Q16720
Function: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium
out of the cell

Gene Wiki entry for ATP2B3 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_167198.1  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP2B3 gene promoter:
         HOXA9   HOXA9B   Tal-1   E47   Meis-1b   RORalpha1   FAC1   Pax-4a   MRF-2   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ATP2B3 promoter sequence
   Search SABiosciences Chromatin IP Primers for ATP2B3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP2B3


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

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

ATP2B3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP2B3 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP152783:  view genomic region     (about GC identifiers)

Start:
152,783,134 bp from pter      End:
152,848,397 bp from pter
Size:
65,264 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AT2B3_HUMAN, Q16720 (See protein sequence)
Recommended Name: Plasma membrane calcium-transporting ATPase 3  
Size: 1220 amino acids; 134197 Da
Subunit: Interacts with PDZD11
Subcellular location: Cell membrane; Multi-pass membrane protein
Secondary accessions: B7WNR8 B7WNY5 Q12995 Q16858
Alternative splicing: 8 isoforms:  Q16720-1   Q16720-2   Q16720-3   Q16720-4   Q16720-5   Q16720-6   Q16720-7   Q16720-8   

Explore the universe of human proteins at neXtProt for ATP2B3: NX_Q16720

Explore proteomics data for ATP2B3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q16720

  • 4/57 DME Specific Peptides for ATP2B3 (Q16720) (see all 57)
     QFQLTVN  SSLTGES  PGSPLHS  IRNEKGE 

    ATP2B3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATP2B3 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001001344.1  NP_068768.2  

    ENSEMBL proteins: 
     ENSP00000343886   ENSP00000359205   ENSP00000377425   ENSP00000352062   ENSP00000263519  
     ENSP00000359200  
    Reactome Protein details: Q16720
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    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--

    ATP2B3 for ontologies           About GeneDecksing



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

    IUPHAR Guide to PHARMACOLOGY protein family classification: PMCA3 
    Ca2+-ATPases

    5/10 InterPro protein domains (see all 10):
     IPR023298 ATPase_P-typ_TM_dom
     IPR023299 ATPase_P-typ_cyto_domN
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR006408 ATPase_P-typ_Ca-transp_plasma
     IPR023214 HAD-like_dom

    Graphical View of Domain Structure for InterPro Entry Q16720

    ProtoNet protein and cluster: Q16720

    2 Blocks protein domains:
    IPB001757 ATPase
    IPB008250 E1-E2 ATPase-associated region


    UniProtKB/Swiss-Prot: AT2B3_HUMAN, Q16720
    Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily


    ATP2B3 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AT2B3_HUMAN, Q16720
    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 ATP2B3:
    ATPase,Ca++ transporting,B3 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): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005388calcium-transporting ATPase activity IEA--
    GO:0005516calmodulin binding IEA--
    GO:0005524ATP binding IEA--
    GO:0019829cation-transporting ATPase activity ----
         
    ATP2B3 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ATP2B3 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Platelet calcium homeostasis
    Platelet calcium homeostasis0.53
    Reduction of cytosolic Ca++ levels0.53
    2Ion channel transport
    Ion channel transport0.49
    Ion transport by P-type ATPases0.32
    3CREB Pathway
    Intracellular Calcium Signaling0.50
    4SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50
    5Platelet activation, signaling and aggregation
    Hemostasis0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for ATP2B3
        Intracellular Calcium Signaling

    1 BioSystems Pathway for ATP2B3
        Calcium Regulation in the Cardiac Cell

    5/7        Reactome Pathways for ATP2B3 (see all 7)
        Hemostasis
    Transmembrane transport of small molecules
    Ion channel transport
    Platelet homeostasis
    Ion transport by P-type ATPases


    3         Kegg Pathways  (Kegg details for ATP2B3):
        Calcium signaling pathway
    Salivary secretion
    Pancreatic secretion


    ATP2B3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP2B3

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/27 Interacting proteins for ATP2B3 (Q167202, 3 ENSP000002635194) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAEP622582, 3, ENSP000002643354MINT-8008077 I2D: score=1 STRING: ENSP00000264335
    AARSD1Q9BTE63I2D: score=1 
    PTGES3L-AARSD1Q9BTE63I2D: score=1 
    TERF2Q155543, ENSP000002549424I2D: score=1 STRING: ENSP00000254942
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS8765088
    GO:0006812cation transport ----
    GO:0007596blood coagulation TAS--
    GO:0008219cell death IEA--
    GO:0034220ion transmembrane transport TAS--

    ATP2B3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    EMD Millipore small molecules for ATP2B3:
    Small Molecule - inhibitor
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    6 HMDB Compounds for ATP2B3    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--

    Search CenterWatch for drugs/clinical trials and news about ATP2B3 / AT2B3

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ATP2B3 gene (2 alternative transcripts): 
    NM_001001344.2  NM_021949.3  

    Unigene Clusters for ATP2B3:

    ATPase, Ca++ transporting, plasma membrane 3
    Hs.533956  [show with all ESTs], Hs.658008  [show with all ESTs]
    Unigene Representative Sequences: NM_021949, AK130194
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000349466 ENST00000370186 ENST00000393842 ENST00000359149 ENST00000460549
    ENST00000496610 ENST00000263519(uc004fht.1) ENST00000370181(uc004fhs.1 uc010nuf.1 uc004fhu.1)

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    Additional mRNA sequence: AK130194.1 

    6 DOTS entries:

    DT.100657461  DT.92417768  DT.40111295  DT.92417769  DT.95141430  DT.102823816 

    24/49 AceView cDNA sequences (see all 49):

    BM728091 BU790224 NM_001001344 U15690 AK090838 BU183973 Z38888 BM986989 
    T33731 BM680649 NM_021949 BM695792 BG739902 AK094500 U60414 Z42732 
    BE208608 BM805938 AA904199 BX102687 BP361702 AK130194 BQ878721 BC047580 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ATP2B3    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21a · 21b · 21c · 21d ^
    SP1:                                                                                                  -                                                     -   
    SP2:                                                                                                  -                                   -     -     -     -   
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                  -     -   

    ExUns: 22
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for ATP2B3

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ATP2B3 expression in normal human tissues (normalized intensities)      ATP2B3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCTGGAATC
    ATP2B3 Expression
    About this image


    ATP2B3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/11 selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
             cerebellum   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Eye (Sensory Organs)
             Retina
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Bone (Muscoskeletal System)
             sensory organ/ear/inner ear   

    See ATP2B3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP2B3

    SOURCE GeneReport for Unigene clusters: Hs.533956 Hs.658008

    UniProtKB/Swiss-Prot: AT2B3_HUMAN, Q16720
    Tissue specificity: Highly expressed in the cerebellum, particulary in the presynaptic terminals of parallel
    fibers-Purkinje neurons. Isoform XE and isoform XB are the most abundant isoforms and are detected at low levels
    in brain and fetal skeletal muscle. The other isoforms are only found at lower levels and not in fetal tissues

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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATP2B3 gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp2b31 , 5 ATPase, Ca++ transporting, plasma membrane 31, 5 89.1(n)1
    98.2(a)1
      X (37.33 cM)5
    3207071  NM_177236.31  NP_796210.21 
     735030865 
    lizard
    (Anolis carolinensis)
    Reptilia ATP2B36
    ATPase, Ca++ transporting, plasma membrane 3
    84(a)
    1 ↔ 1
    2(87175151-87350273)
    zebrafish
    (Danio rerio)
    Actinopterygii wufk54d072 Transcribed sequence with moderate similarity to protein refNP_068768.1 (H.sapiens) ATPase, Ca++ transporting, plasma membrane 3 [Homo sapiens] less 79.67(n)    CK141446.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta BEST:CK011403
    PMCA1
    calcium-transporting ATPase3
    plasma membrane calcium ATPase1
    64(a)3
    60.04(n)1
    66.98(a)1
      102B53
    437871  NM_001201586.11  NP_001188515.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PMC1(YGL006W)4 Vacuolar Ca2+ ATPase involved in depleting cytosol of Ca2+ ions; prevents growth inhibition by activation of calcineurin in the presence of elevated concentrations of calcium; similar to mammalian PMCA1a less   --   7(485921-489442) 852878  NP_011509.1 
    soybean
    (Glycine max)
    eudicotyledons Gma.10472 Glycine max plasma membrane Ca2+-ATPase (SCA1) mRNA, complete cds less 72.82(n)    AF195028.1 
    rice
    (Oryza sativa)
    Liliopsida NM_190089.12   -- 75.37(n)    NM_190089.1 


    ENSEMBL Gene Tree for ATP2B3 (if available)
    TreeFam Gene Tree for ATP2B3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATP2B3 gene
    ATP2B12  ATP2B22  ATP2B42  
    6 SIMAP similar genes for ATP2B3 using alignment to 3 protein entries:     AT2B3_HUMAN (see all proteins):
    DKFZp686M088    PMCA2    ATP2B2    ATP2B2 variant protein    ATP2B1    ATP2B4

    ATP2B3 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/921 SNPs in ATP2B3 are shown (see all 921)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0693084
    Spinocerebellar ataxia, X-linked 1 (SCAX1)4--see VAR_0693082 G D mis40--------
    rs1928511211,2
    --152667595(+) CAGGTA/GCACCG 2 -- us2k10--------
    rs38413091,2
    C--152667628(-) CTCCC-/CTCCCC 2 -- us2k1 trp30--------
    rs1853555711,2
    --152667649(+) GAAGAC/TGAGGA 2 -- us2k10--------
    rs1903335231,2
    --152667712(+) GACACC/TCAGCT 2 -- us2k10--------
    rs1484036821,2
    --152667726(+) CTCTGA/GCTCTG 2 -- us2k10--------
    rs1926284481,2
    --152667776(+) AGCAAA/GGGCAA 2 -- us2k10--------
    rs2017953411,2
    --152667883(+) CTTTT-/CCCCCC 2 -- us2k10--------
    rs38413081,2
    C--152667889(-) GGCAT-/TGGGGG 2 -- us2k10--------
    rs1416082591,2
    C--152667954(+) GCCCTC/TGGGCC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for ATP2B3 (152783134 - 152848397 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ATP2B3:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2740632CNV Deletion23290073
    esv33199CNV Gain+Loss17666407


    Human Gene Mutation Database (HGMD): ATP2B3

    Locus Specific Mutation Databases (LSDB): ATP2B3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP2B3
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP2B3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300014    OMIM disorders: --

    UniProtKB/Swiss-Prot: AT2B3_HUMAN, Q16720
  • Spinocerebellar ataxia, X-linked 1 (SCAX1) [MIM:302500]: Spinocerebellar ataxia is a clinically and
    genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and
    often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable
    involvement of the brainstem and spinal cord. SCAX1 is characterized by hypotonia at birth, delayed motor
    development, gait ataxia, difficulty standing, dysarthria, and slow eye movements. Brain MRI shows cerebellar
    ataxia. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 9 diseases for ATP2B3:    About MalaCards
    x-linked non progressive cerebellar ataxia    succinic semialdehyde dehydrogenase deficiency    centronuclear myopathy    cerebellar ataxia
    myopathy    tuberculosis    ataxia    cerebritis
    pancreatitis


    ATP2B3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ATP2B3
    Human Genome Epidemiology (HuGE) Navigator: ATP2B3 (1 document)

    Export disorders for ATP2B3 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)
    About This Section

    PubMed articles for ATP2B3 gene, integrated from 9 sources (see all 28):
    (articles sorted by number of sources associating them with ATP2B3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Localization of two genes encoding plasma membrane Ca2+ ATPases isoforms 2 (ATP2B2) and 3 (ATP2B3) to human chromosomes 3p26-->p25 and Xq28, respectively. (PubMed id 8187550)1, 2, 3 Wang M.G....McBride O.W. (1994)
    2. Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis. (PubMed id 22912398)1, 2 Zanni G....Carafoli E. (2012)
    3. Case-control study of six genes asymmetrically expres sed in the two cerebral hemispheres: association of BAIAP2 with attention-defic it/hyperactivity disorder. (PubMed id 19733838)1, 4 RibasAcs M....Cormand B. (2009)
    4. Comparative genome sequence analysis of the Bpa/Str region in mouse and man. (PubMed id 10854409)1, 2 Mallon A.-M....Brown S.D.M. (2000)
    5. Primary structure of human plasma membrane Ca(2+)-ATPase isoform 3. (PubMed id 8765088)1, 2 Brown B.... Strehler E.E. (1996)
    6. Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes. (PubMed id 7989379)1, 2 Stauffer T.P....Strehler E.E. (1994)
    7. Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes. (PubMed id 8245032)1, 2 Stauffer T.P.... Strehler E.E. (1993)
    8. Somatic mutations in ATP1A1 and ATP2B3 lead to aldoste rone-producing adenomas and secondary hypertension. (PubMed id 23416519)1 Beuschlein F....Reincke M. (2013)
    9. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

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

      Query String
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    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)
    About This Section
    Entrez Gene: 492 HGNC: 816 AceView: ATP2B3 Ensembl:ENSG00000067842 euGenes: HUgn492
    ECgene: ATP2B3 Kegg: 492 H-InvDB: ATP2B3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ATP2B3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ATP2B3 gene:
    Search GeneIP for patents involving ATP2B3

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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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