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ATP2B3 Gene

protein-coding   GIFtS: 68
GCID: GC0XP152783

ATPase, Ca++ Transporting, Plasma Membrane 3

(Previous names: spinocerebellar ataxia, X-linked 1, cerebellar ataxia 2...)
(Previous symbols: SCAX1, CLA2)
  See ATP2B3-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)
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Aliases
ATPase, Ca++ Transporting, Plasma Membrane 31 2     OPCA2
SCAX11 2 5     PMCA3a2
PMCA32 3 5     Plasma Membrane Calcium ATPase2
CLA21 2     Plasma Membrane Calcium Pump2
Cerebellar Ataxia 2 (X-Linked)1 2     Plasma Membrane Calcium ATPase Isoform 33
Plasma Membrane Calcium-Transporting ATPase 31 2     Plasma Membrane Calcium Pump Isoform 33
EC 3.6.3.83 8     EC 3.6.38
Spinocerebellar Ataxia, X-Linked 11     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 spinocerebellar ataxia, x-linked 1, and x-linked non progressive cerebellar ataxia. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_011681.17  NC_018934.2  
Regulatory elements:
   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 Chromatin IP Primers for ATP2B3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: AT2B3_HUMAN, Q16720 (See protein sequence)
Recommended Name: Plasma membrane calcium-transporting ATPase 3  
Size: 1220 amino acids; 134197 Da
Subunit: Interacts with PDZD11
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: 

  • Ubiquitination2 at Lys194, Lys803
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ATP2B3 (Q16720) (see all 57)
     QFQLTVN  SSLTGES  PGSPLHS  IRNEKGE 


    See ATP2B3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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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    (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: PMCA3
    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 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


    Find genes that share domains with ATP2B3           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: 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): Selected molecular function terms (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 ----
         
    Find genes that share ontologies with ATP2B3           About GenesLikeMe


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    SwitchGear 3'UTR luciferase reporter plasmidATP2B3 3' UTR sequence
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    (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
    AT2B3_HUMAN, Q16720: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum1
    golgi apparatus1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IDA--
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with ATP2B3           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 ATP2B3 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 ATP2B3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    1 BioSystems Pathway for ATP2B3
        Calcium Regulation in the Cardiac Cell

    2 Reactome Pathways for ATP2B3
        Ion transport by P-type ATPases
    Reduction of cytosolic Ca++ levels


    4 Kegg Pathways  (Kegg details for ATP2B3):
        Calcium signaling pathway
    Adrenergic signaling in cardiomyocytes
    Salivary secretion
    Pancreatic secretion

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATP2B3
    Interactions:

        Search GeneGlobe Interaction Network for ATP2B3

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

    Selected Interacting proteins for ATP2B3 (Q167202, 3 ENSP000002635194) via UniProtKB, MINT, STRING, and/or I2D (see all 60)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAEP622582, 3, ENSP000002643354MINT-8008077 I2D: score=1 STRING: ENSP00000264335
    AARSD1Q9BTE63I2D: score=1 
    PTGES3L-AARSD1Q9BTE63I2D: score=1 
    ATP2C1P981943, ENSP000003526654I2D: score=1 STRING: ENSP00000352665
    FCF1Q9Y3243, ENSP000003443934I2D: score=4 STRING: ENSP00000344393
    About this table

    Gene Ontology (GO): Selected biological process terms (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--

    Find genes that share ontologies with ATP2B3           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
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    Browse Tocris compounds for ATP2B3 (AT2B3)

    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--



    (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 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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    hsa-miR-26a-2* hsa-miR-4272 hsa-miR-15a hsa-miR-938 hsa-miR-301a hsa-miR-1276 hsa-miR-424 hsa-miR-155
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    Additional mRNA sequence: AK130194.1 

    6 DOTS entries:

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

    Selected AceView cDNA sequences (see all 49):

    BU183973 NM_001001344 U15690 T33731 BM728091 BU790224 BM680649 Z38888 
    BG739902 BM986989 BM695792 NM_021949 AK090838 BQ878721 AA904199 U60414 
    AK094500 Z42732 BM805938 BE208608 BU736416 AK130194 BX102687 BX283977 

    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™, 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)
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    ATP2B3 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 3) fully expand
     
     Eye (Sensory Organs)
             Lens
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
             Cerebral Cortex
    ATP2B3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP2B3 Protein Expression

    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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    In Situ
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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 ATP2B3 gene from Selected species (see all 18)    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)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia atp2b31 ATPase, Ca++ transporting, plasma membrane 3 75.02(n)
    87.38(a)
      100125191  NM_001131043.1  NP_001124515.1 
    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
    59.24(n)1
    65.88(a)1
      102B53
    437871  NM_001201589.21  NP_001188518.11 
    worm
    (Caenorhabditis elegans)
    Secernentea R05C11.33
    mca-31
    ATPase3
    mca-31
    58(a)
    (best of 2)3
    60.21(n)1
    66.45(a)1
      IV(2084056-2091420)3
    1770891  NM_001268315.11  NP_001255244.11 
    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)
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    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

    Find genes that share paralogs with ATP2B3           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 ATP2B3 (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

    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300014   
    OMIM disorders: 302500  
    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

  • 4 diseases for ATP2B3:    
    About MalaCards
    spinocerebellar ataxia, x-linked 1    x-linked non progressive cerebellar ataxia    cerebellar ataxia    ataxia


    Find genes that share disorders with ATP2B3           About GenesLikeMe

    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)
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    PubMed articles for ATP2B3 gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with ATP2B3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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, 3 Zanni G.... Carafoli E. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    2. 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. (Cytogenet. Cell Genet. 1994)
    3. Case-control study of six genes asymmetrically expressed in the two cerebral hemispheres: association of BAIAP2 with attention-deficit/hyperactivity disorder. (PubMed id 19733838)1, 4 RibasAcs M....Cormand B. (Biol. Psychiatry 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. (Genome Res. 2000)
    5. Primary structure of human plasma membrane Ca(2+)-ATPase isoform 3. (PubMed id 8765088)1, 2 Brown B.... Strehler E.E. (Biochim. Biophys. Acta 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. (J. Biol. Chem. 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. (J. Biol. Chem. 1993)
    8. Profiling of Parkin-binding partners using tandem affinity purification. (PubMed id 24244333)1 Zanon A....Pichler I. (PLoS ONE 2013)
    9. Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. (PubMed id 23416519)1 Beuschlein F....Reincke M. (Nat. Genet. 2013)
    10. 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. (Nat. Cell Biol. 2012)

    (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: 492 HGNC: 816 AceView: ATP2B3 Ensembl:ENSG00000067842 euGenes: HUgn492
    ECgene: ATP2B3 Kegg: 492 H-InvDB: ATP2B3

    (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)
    About This Section

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    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.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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