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ATP2A2 Gene

protein-coding   GIFtS: 71
GCID: GC12P110719

ATPase, Ca++ Transporting, Cardiac Muscle, Slow Twitch 2


(Previous symbols: ATP2B, DAR)
  See ATP2A2-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, Cardiac Muscle, Slow Twitch 21 2     SERCA22 3
ATP2B1 2 3 5     SR Ca(2+)-ATPase 22 3
Calcium Pump 21 2 3     EC 3.6.3.83 8
DAR1 2 5     DD2
Sarcoplasmic/Endoplasmic Reticulum Calcium ATPase 21 2     ATPase, Ca++ Dependent, Slow-Twitch, Cardiac Muscle-22
Calcium-Transporting ATPase Sarcoplasmic Reticulum Type, Slow Twitch
Skeletal Muscle Isoform2 3
     Cardiac Ca2+ ATPase2
Endoplasmic Reticulum Class 1/2 Ca(2+) ATPase2 3     EC 3.6.38

External Ids:    HGNC: 8121   Entrez Gene: 4882   Ensembl: ENSG000001744377   OMIM: 1087405   UniProtKB: P166153   

Export aliases for ATP2A2 gene to outside databases

Previous GC identifers: GC12P109794 GC12P110566 GC12P109182 GC12P107737


(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 ATP2A2 Gene:
This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or
endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation
of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the
contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis
follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and
abnormal keratinization. Alternative splicing results in multiple transcript variants encoding different
isoforms. (provided by RefSeq, Oct 2008)

GeneCards Summary for ATP2A2 Gene:
ATP2A2 (ATPase, Ca++ transporting, cardiac muscle, slow twitch 2) is a protein-coding gene. Diseases associated with ATP2A2 include mongolian spot, and mitral valve stenosis. GO annotations related to this gene include calcium-transporting ATPase activity and enzyme binding. An important paralog of this gene is ATP2C1.

UniProtKB/Swiss-Prot: AT2A2_HUMAN, P16615
Function: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of
calcium from the cytosol to the sarcoplasmic reticulum lumen. Isoform 2 is involved in the regulation of the
contraction/relaxation cycle

summary for ATP2A2 Gene:
Ca2+-ATPases function to maintain a low cytoplasmic conentration of Ca2+ ions. They are high affinity, low
capacitance transporters and compliment the actions of the low affinity, high capacitance Na+/Ca2+
exchanger. Ca2+-ATPases are P-type ATPases and there are two varients; a plasma membrane-bound Ca2+-ATPase
(PMCA) and a sacroplasmic reticulum Ca2+-ATPase (SERCA). PMCA exists as a dimer within the plasma membrane
of a wide variety of cell types and, using the energy released from ATP hydrolysis, transports Ca2+ ions out
of the cell against the concentration gradient. SERCA is located in the sarcoplasmic reticulum (SR) of
muscle cells and transports Ca2+ ions from the cytoplasm into the SR lumen during muscle relaxation. PMCA
transports one Ca2+ ion per ATP molecule hydrolyzed, whilst SERCA can transport two. PMCAs are regulated by
calmodulin and the phospholipid composition of the surrounding plasma membrane. Furthermore, PMCA can be
phosphorylated by PKA, PKC, Src and FAK at specific residues to influence activity. So far, only one human
pathology has been linked to PMCA defects; deafness. However, SERCA defects have been implicated in a wide
array of pathologies including heart failure, sperm motility defects, cataract formation, carcinogenesis,
diabetes, and cardiac hypertension and hypertrophy.




(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_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP2A2 gene promoter:
         Sp1   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ATP2A2 promoter sequence
   Search Chromatin IP Primers for ATP2A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP2A2


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

Entrez Gene cytogenetic band: 12q24.11   Ensembl cytogenetic band:  12q24.11   HGNC cytogenetic band: 12q24.11

ATP2A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP2A2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P110719:  view genomic region     (about GC identifiers)

Start:
110,718,561 bp from pter      End:
110,788,898 bp from pter
Size:
70,338 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: AT2A2_HUMAN, P16615 (See protein sequence)
Recommended Name: Sarcoplasmic/endoplasmic reticulum calcium ATPase 2  
Size: 1042 amino acids; 114757 Da
Subunit: Associated with phospholamban (PLN) (By similarity). Isoform 1 interacts with TRAM2 (via C-terminus).
Interacts with HAX1. Interacts with S100A8 and S100A9 (By similarity)
Sequence caution: Sequence=BAG57266.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A6NDN7 B4DF05 P16614 Q86VJ2
Alternative splicing: 5 isoforms:  P16615-1   P16615-2   P16615-3   P16615-4   P16615-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATP2A2: NX_P16615

Explore proteomics data for ATP2A2 at MOPED

Post-translational modifications: 

  • Nitrated under oxidative stress. Nitration on the two tyrosine residues inhibits catalytic activity1
  • Ubiquitination2 at Lys143, Lys205, Lys352, Lys436, Lys460, Lys481, Lys628, Lys650, Lys712, Lys995
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ATP2A2 (P16615) (see all 69)
     VPGDIVE  AICRRIG  TGSTYAP  HKSKIVE 


    See ATP2A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001672.1  NP_733765.1  

    ENSEMBL proteins: 
     ENSP00000447406   ENSP00000311186   ENSP00000366913   ENSP00000440045   ENSP00000449454  
     ENSP00000450407   ENSP00000378872  
    Reactome Protein details: P16615

    ATP2A2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for ATP2A2

     
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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: SERCA2
    Ca2+-ATPases

    Selected InterPro protein domains (see all 9):
     IPR023298 ATPase_P-typ_TM_dom
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR005782 ATPase_P-typ_Ca-transp_IIA
     IPR023214 HAD-like_dom
     IPR004014 ATPase_P-typ_cation-transptr_N

    Graphical View of Domain Structure for InterPro Entry P16615

    ProtoNet protein and cluster: P16615

    4 Blocks protein domains:
    IPB000695 H+-transporting ATPase (proton pump) signature
    IPB001757 ATPase
    IPB006068 Cation transporting ATPase
    IPB008250 E1-E2 ATPase-associated region


    UniProtKB/Swiss-Prot: AT2A2_HUMAN, P16615
    Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily


    Find genes that share domains with ATP2A2           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: AT2A2_HUMAN, P16615
    Function: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of
    calcium from the cytosol to the sarcoplasmic reticulum lumen. Isoform 2 is involved in the regulation of the
    contraction/relaxation cycle
    Catalytic activity: ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2)
    Enzyme regulation: Reversibly inhibited by phospholamban (PLN) at low calcium concentrations. Dephosphorylated PLN
    decreases the apparent affinity of the ATPase for calcium. This inhibition is regulated by the phosphorylation of
    PLN (By similarity)

         Genatlas biochemistry entry for ATP2A2:
    ATPase,Ca++ transporting,expressed in the sarcoplasmic reticullum of the heart (SERCA2A) rate determining factor
    of Ca2+ reuptake into the SR,regulated by phospholamban,also expressed in the heart,slow-twitch muscle,highly
    expressed in keratinocytes,including two isoforms,a (D12S2026),b (D12S1965). Ca2+ pump,playing a pivotal role in
    intracellular Ca2+ signaling

         Enzyme Numbers (IUBMB): EC 3.6.3.81 2 EC 3.6.32

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005388calcium-transporting ATPase activity TAS2844796
    GO:0005515protein binding IPI17526652
    GO:0005524ATP binding IEA--
    GO:0008022protein C-terminus binding IPI14749390
         
    Find genes that share ontologies with ATP2A2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ATP2A2:
     Synthetic lethal with Ras 

         Selected MGI mutant phenotypes (inferred from 3 alleles(MGI details for Atp2a2) (see all 16):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  integument  mortality/aging 
     muscle  renal/urinary system  reproductive system  respiratory system  skeleton 

    Find genes that share phenotypes with ATP2A2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ATP2A2: Atp2a2tm1Fwuy Atp2a2tm1Ges

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATP2A2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATP2A2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ATP2A2

    miRNA
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    miRTarBase miRNAs that target ATP2A2:
    hsa-let-7c-5p (MIRT051808), hsa-mir-31-5p (MIRT049871), hsa-mir-100-5p (MIRT048397), hsa-let-7b-5p (MIRT032246), hsa-mir-30a-5p (MIRT005137), hsa-mir-671-5p (MIRT039280), hsa-mir-142-3p (MIRT021642), hsa-let-7f-5p (MIRT051398), hsa-mir-221-3p (MIRT046967), hsa-let-7a-5p (MIRT052513), hsa-mir-484 (MIRT042367), hsa-mir-197-3p (MIRT048071), hsa-mir-26b-5p (MIRT028977), hsa-mir-1226-3p (MIRT036518), hsa-mir-15b-5p (MIRT046495)

    Block miRNA regulation of human, mouse, rat ATP2A2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATP2A2 (see all 117):
    hsa-miR-579 hsa-miR-576-3p hsa-miR-3152-3p hsa-miR-300 hsa-miR-1258 hsa-miR-200a hsa-miR-30d hsa-miR-138-2*
    SwitchGear 3'UTR luciferase reporter plasmidATP2A2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP2A2


    (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
    AT2A2_HUMAN, P16615: Endoplasmic reticulum membrane; Multi-pass membrane protein. Sarcoplasmic reticulum
    membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane4
    cytoskeleton2
    cytosol2
    mitochondrion1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum ----
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005887integral component of plasma membrane TAS2844796
    GO:0016020membrane IDA--
    GO:0016021integral component of membrane ----

    Find genes that share ontologies with ATP2A2           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 ATP2A2 About   (see all 28)  
    See pathways by source

    SuperPathContained pathways About
    1Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Dilated cardiomyopathy0.75
    Arrhythmogenic right ventricular cardiomyopathy0.54
    2Alzheimer's disease
    Alzheimers Disease0.44
    Alzheimer's disease0.44
    3Ion transport by P-type ATPases
    Ion transport by P-type ATPases
    calcium transport I0.00
    4Platelet homeostasis
    Platelet homeostasis
    Platelet calcium homeostasis0.00
    Reduction of cytosolic Ca++ levels0.00
    5Pre-NOTCH Expression and Processing
    Pre-NOTCH Expression and Processing0.62
    Pre-NOTCH Processing in Golgi0.00


    Find genes that share SuperPaths with ATP2A2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ATP2A2
        Calcium Mediated T-Cell Apoptosis
    Intracellular Calcium Signaling
    Beta-Adrenergic Signaling
    Dopamine-DARPP32 Feedback onto cAMP Pathway

    3 Cell Signaling Technology (CST) Pathways for ATP2A2
        Translational Control
    Ca, cAMP and Lipid Signaling
    Glucose / Energy Metabolism

    2 GeneGo (Thomson Reuters) Pathways for ATP2A2
        Development Beta-adrenergic receptors signaling via cAMP
    Signal transduction Calcium signaling

    Selected BioSystems Pathways for ATP2A2 (see all 6)
        Myometrial Relaxation and Contraction Pathways
    Calcium Regulation in the Cardiac Cell
    Arrhythmogenic right ventricular cardiomyopathy
    Alzheimers Disease
    Endothelin

    3 Reactome Pathways for ATP2A2
        Pre-NOTCH Processing in Golgi
    Ion transport by P-type ATPases
    Reduction of cytosolic Ca++ levels

    3 PharmGKB Pathways for ATP2A2
        Antiarrhythmic Pathway, Pharmacodynamics
    Celecoxib Pathway, Pharmacodynamics
    Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for ATP2A2) (see all 9):
        Calcium signaling pathway
    Cardiac muscle contraction
    Adrenergic signaling in cardiomyocytes
    Thyroid hormone signaling pathway
    Pancreatic secretion

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATP2A2
    Interactions:

        GeneGlobe Interaction Network for ATP2A2

    Selected Interacting proteins for ATP2A2 (P166151, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 54)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OPRD1P411431, 2, 3EBI-358933,EBI-2624456 MINT-7889342 MINT-7889483 MINT-7889371 I2D: score=1 
    TNFRSF1AP194382, 3MINT-49362 I2D: score=2 
    TNFRSF1BP203332, 3MINT-49456 I2D: score=2 
    TRADDQ156282, 3MINT-49496 I2D: score=2 
    TRAF6Q9Y4K32, 3MINT-49609 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002026regulation of the force of heart contraction IEA--
    GO:0006810transport TAS2844796
    GO:0006812cation transport ----
    GO:0006816calcium ion transport ----
    GO:0006874cellular calcium ion homeostasis TAS--

    Find genes that share ontologies with ATP2A2           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 

    Compounds for ATP2A2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    ArtemisininAntimalarial; inhibits P-type ATPase (PfATP6) of P.falciparum[63968-64-9]
    BHQInhibitor of SERCA ATPase[88-58-4]
    Ochratoxin AStimulates SERCA-ATP-dependent Ca2+ pump activity[303-47-9]
    Cyclopiazonic acidInhibitor of SERCA ATPase[18172-33-3]
    ThapsigarginPotent inhibitor of SERCA ATPase[67526-95-8]

    2 HMDB Compounds for ATP2A2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    MagnesiumMagnesium (see all 2)7439-95-4--

    Selected Novoseek inferred chemical compound relationships for ATP2A2 gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 66.8 179 9244202 (5), 16105684 (4), 2146166 (4), 15840101 (4) (see all 75)
    etomoxir 63.1 1 11866664 (1)
    ryanodine 62.2 8 11489771 (2), 11576540 (1), 19458227 (1), 15792839 (1) (see all 7)
    thapsigargin 52.8 3 18971376 (1), 19556421 (1)
    inositol 1,4,5 trisphosphate 19.6 1 19458227 (1)
    ribonucleic acid 5.41 1 15582321 (1)
    nadh 0 2 10603952 (1), 9833153 (1)
    oxygen 0 1 18172601 (1)
    nitric oxide 0 1 17257557 (1)
    glycogen 0 1 18528823 (1)



    Find genes that share compounds with ATP2A2           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 ATP2A2 gene (3 alternative transcripts): 
    NM_001681.3  NM_170665.3  NM_001135765.1  

    Unigene Cluster for ATP2A2:

    ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
    Hs.506759  [show with all ESTs]
    Unigene Representative Sequence: NM_170665
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000552636 ENST00000308664(uc001tql.4) ENST00000377685(uc009zvn.3)
    ENST00000539276 ENST00000548169 ENST00000550248 ENST00000547050 ENST00000549840
    ENST00000550262 ENST00000547792 ENST00000313432(uc001tqn.4) ENST00000553144
    ENST00000395494(uc001tqk.4 uc021rdt.1)
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat ATP2A2
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    Additional mRNA sequence: 

    AK000300.1 AK095382.1 AK293877.1 AL117505.1 AY186578.1 BC035588.1 BC065753.1 BX648282.1 
    M23114.1 M23115.1 

    Selected DOTS entries (see all 25):

    DT.100038203  DT.95109821  DT.91701524  DT.80100763  DT.121180770  DT.92464965  DT.121180724  DT.100798281 
    DT.100798282  DT.95264928  DT.121180743  DT.92464936  DT.100798277  DT.121180727  DT.121180816  DT.40192639 
    DT.91662034  DT.92011905  DT.92464952  DT.95264914  DT.100726768  DT.121180689  DT.40133548  DT.91651181 

    Selected AceView cDNA sequences (see all 903):

    BM680123 BU181586 BM722638 M23114 AU125920 BQ631924 T07171 BM924379 
    H08318 F02601 F06597 BG232091 F08846 BM830540 N40435 F00016 
    BQ437500 CB108057 BU728904 CA395151 BQ937937 F29241 AI299720 N85727 

    GeneLoc Exon Structure


    (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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    ATP2A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTTCAGGTA
    ATP2A2 Expression
    About this image


    ATP2A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 17) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Thalamus
     
     Heart (Cardiovascular System)
             Cardiomyocytes Outer Curvature
     
     Eye (Sensory Organs)
             Glycinergic Amacrine Cells Inner Nuclear Layer
     
     Neurons
             Glycinergic Amacrine Cells Inner Nuclear Layer
     
     Colon (Gastrointestinal Tract)
    ATP2A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP2A2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.506759

    UniProtKB/Swiss-Prot: AT2A2_HUMAN, P16615
    Tissue specificity: Isoform 1 is widely expressed in smooth muscle and nonmuscle tissues such as in adult skin
    epidermis, with highest expression in liver, pancreas and lung, and intermediate expression in brain, kidney and
    placenta. Also expressed at lower levels in heart and skeletal muscle. Isoforms 2 and 3 are highly expressed in
    the heart and slow twitch skeletal muscle. Expression of isoform 3 is predominantly restricted to cardiomyocytes
    and in close proximity to the sarcolemma. Both isoforms are mildly expressed in lung, kidney, liver, pancreas and
    placenta. Expression of isoform 3 is amplified during monocytic differentiation and also observed in the fetal
    heart

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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 ATP2A2 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp2a21 , 5 ATPase, Ca++ transporting, cardiac muscle, slow twitch more1, 5 90.34(n)1
    98.85(a)1
      5 (62.38 cM)5
    119381  NM_001110140.31  NP_001103610.11 
     1224535135 
    chicken
    (Gallus gallus)
    Aves ATP2A21 ATPase, Ca++ transporting, cardiac muscle, slow twitch more 81.77(n)
    93.95(a)
      396446  NM_001271974.1  NP_001258903.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP2A26
    ATPase, Ca++ transporting, cardiac muscle, slow tw...
    93(a)
    1 ↔ 1
    LGb(2169271-2203709)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.108432 Transcribed sequence with strong similarity to protein more 79.22(n)    BX742414.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atp2a2a1 ATPase, Ca++ transporting, cardiac muscle, slow twitch more 76.15(n)
    87.84(a)
      393940  NM_200965.1  NP_957259.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ca-P60A3 calcium ion transport
    calcium-transporting ATPase
    72(a)   60A11   --
    worm
    (Caenorhabditis elegans)
    Secernentea sca-16
    Protein SCA-1, isoform b (sca-1) mRNA, complete cd...
    67(a)
    1 → many
    III(10811906-10816844) WBGene00004736
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PMR16
    High affinity Ca2+/Mn2+ P-type ATPase required for...
    31(a)
    1 → many
    VII(187616-190468) YGL167C
    soybean
    (Glycine max)
    eudicotyledons 444826162   -- 70.25(n)  
    barley
    (Hordeum vulgare)
    Liliopsida AJ310845.12   -- 73.65(n)    AJ310845.1 


    ENSEMBL Gene Tree for ATP2A2 (if available)
    TreeFam Gene Tree for ATP2A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATP2A2 gene
    ATP2C12  ATP2A32  ATP2C22  ATP2A12  
    8 SIMAP similar genes for ATP2A2 using alignment to 6 protein entries:     AT2A2_HUMAN (see all proteins):
    ATP2A1    ATP2A3    DKFZp779G2251    DKFZp779O2152    ATP2C1    ATP2C2
    ATP1A2    DKFZp686I0955

    Find genes that share paralogs with ATP2A2           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ATP2A2
    PGOHUM00000238367


    (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 ATP2A2 (see all 1551)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289294781,2,,4
    CDarier disease (DD)4 pathogenic1110516836(+) TACGGA/GGCTGA 4 E G mis1 ese30--------
    VAR_0086274
    Darier disease (DD)4--see VAR_0086272 A D mis40--------
    VAR_0086264
    Darier disease (DD)4--see VAR_0086262 D N mis40--------
    VAR_0086244
    Darier disease (DD)4--see VAR_0086242 F S mis40--------
    VAR_0086174
    Darier disease (DD)4--see VAR_0086172 C F mis40--------
    VAR_0086224
    Darier disease (DD)4--see VAR_0086222 S F mis40--------
    VAR_0086234
    Darier disease (DD)4--see VAR_0086232 C R mis40--------
    VAR_0175324
    Acrokeratosis verruciformis (AKV)4--see VAR_0175322 P L mis40--------
    VAR_0095084
    Darier disease (DD)4--see VAR_0095082 T K mis40--------
    VAR_0086124
    Darier disease (DD)4--see VAR_0086122 R Q mis40--------

    HapMap Linkage Disequilibrium report for ATP2A2 (110718561 - 110788898 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ATP2A2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv28186CNV Loss19812545

    Human Gene Mutation Database (HGMD): ATP2A2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP2A2
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP2A2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 108740   
    OMIM disorders: 124200  101900  
    UniProtKB/Swiss-Prot: AT2A2_HUMAN, P16615
  • Acrokeratosis verruciformis (AKV) [MIM:101900]: A localized disorder of keratinization, which is
    inherited as an autosomal dominant trait. Its onset is early in life with multiple flat-topped, flesh-colored
    papules on the hands and feet, punctate keratoses on the palms and soles, with varying degrees of nail
    involvement. The histopathology shows a distinctive pattern of epidermal features with hyperkeratosis,
    hypergranulosis and acanthosis together with papillomatosis. These changes are frequently associated with
    circumscribed elevations of the epidermis that are said to resemble church spires. There are no features of
    dyskeratosis or acantholysis, the typical findings in lesions of Darier disease. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Darier disease (DD) [MIM:124200]: A skin disorder characterized by warty papules and plaques in
    seborrheic areas (central trunk, flexures, scalp and forehead), palmoplantar pits and distinctive nail
    abnormalities. It is due to loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization.
    Patients with mild disease may have no more than a few scattered keratotic papules or subtle nail changes,
    whereas those with severe disease are handicapped by widespread malodorous keratotic plaques. Some patients
    present with hemorrhage into acantholytic vesicles on the palms and dorsal aspects of the fingers which gives
    rise to black macules. In a few families affected by Darier disease, neuropsychiatric abnormalities such as mild
    mental retardation, schizophrenia, bipolar disorder and epilepsy have been reported. Stress, UV exposure, heat,
    sweat, friction and oral contraception exacerbate disease symptoms. Clinical variants of Darier disease include
    hypertrophic, vesicobullous, hypopigmented, cornifying, zosteriform or linear, acute and comedonal subtypes.
    Comedonal Darier disease is characterized by the coexistence of acne-like comedonal lesions with typical Darier
    hyperkeratotic papules on light-exposed areas. At histopathologic level, comedonal Darier disease differs from
    classic Darier disease in the prominent follicular involvement and the presence of greatly elongated dermal
    villi. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 8 diseases for ATP2A2:    
    About MalaCards
    mongolian spot    mitral valve stenosis    acrokeratosis verruciformis    hailey-hailey disease
    keratosis follicularis    epidermolysis bullosa simplex with mottled pigmentation    keratosis    hypertension

    4 diseases from the University of Copenhagen DISEASES database for ATP2A2:
    Keratosis follicularis     Acrokeratosis verruciformis     Hailey-Hailey disease     Heart disease

    Find genes that share disorders with ATP2A2           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ATP2A2 gene (see all 19)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    darier disease 97.5 103 12890216 (4), 12974140 (4), 11244492 (2), 12542527 (2) (see all 68)
    hailey-hailey disease 84.5 6 18060195 (1), 15888147 (1), 16029335 (1), 15149492 (1) (see all 5)
    acrokeratosis verruciformis 79.6 2 12542527 (2)
    skin diseases 66 11 11389134 (1), 15327552 (1), 16397524 (1), 15888147 (1) (see all 9)
    heart failure 58.8 14 16902596 (3), 9476544 (1), 10603952 (1), 9244202 (1) (see all 11)
    affective disorder major 43.8 2 11986988 (1)
    bipolar disorder 43.4 4 11244492 (2), 11986988 (1)
    mood disorders 40.1 1 11986988 (1)
    cardiac hypertrophy 40.1 4 9587474 (1), 16902596 (1), 8930809 (1), 10750595 (1)
    hypertrophy 25.9 2 11489771 (1), 16902596 (1)

    Genetic Association Database (GAD): ATP2A2
    Human Genome Epidemiology (HuGE) Navigator: ATP2A2 (9 documents)

    Export disorders for ATP2A2 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

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    PubMed articles for ATP2A2 gene, integrated from 10 sources (see all 317):
    (articles sorted by number of sources associating them with ATP2A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class. (PubMed id 10441324)1, 2, 4, 9 Ruiz-Perez V.L.... Strachan T. (Hum. Mol. Genet. 1999)
    2. Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. (PubMed id 10080178)1, 2, 3, 9 Sakuntabhai A.... Hovnanian A. (Nat. Genet. 1999)
    3. A724A polymorphism of sarco(endo)plasmic reticulum Ca2+-ATPase 2 (SERCA2) in hypertensive patients. (PubMed id 17439322)1, 4, 9 Kiec-Wilk B....Kawecka-Jaszcz K. (Clin. Chem. Lab. Med. 2007)
    4. Alterations in the ATP2A2 gene in correlation with colon and lung cancer. (PubMed id 17116488)1, 4, 9 Korosec B....Ravnik-Glavac M. (Cancer Genet. Cytogenet. 2006)
    5. The anti-apoptotic protein HAX-1 interacts with SERCA2 and regulates its protein levels to promote cell survival. (PubMed id 18971376)1, 2, 9 Vafiadaki E.... Kranias E.G. (Mol. Biol. Cell 2009)
    6. ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes. (PubMed id 10441325)1, 2, 9 Jacobsen N.J.O.... Owen M.J. (Hum. Mol. Genet. 1999)
    7. Spectrum of novel ATP2A2 mutations in patients with Darier's disease. (PubMed id 10441323)1, 2, 9 Sakuntabhai A.... Hovnanian A. (Hum. Mol. Genet. 1999)
    8. Exclusion of the Darier's disease gene, ATP2A2, as a common susceptibility gene for bipolar disorder. (PubMed id 11244492)1, 4, 9 Jacobsen N.J....Craddock N. (Mol. Psychiatry 2001)
    9. Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease. (PubMed id 12542527)1, 2, 9 Dhitavat J.... Hovnanian A. (J. Invest. Dermatol. 2003)
    10. Ca2+-ATPases in non-failing and failing heart: evidence for a novel cardiac sarco/endoplasmic reticulum Ca2+-ATPase 2 isoform (SERCA2c). (PubMed id 16402920)1, 2, 9 Dally S.... Enouf J. (Biochem. J. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 488 HGNC: 812 AceView: ATP2A2 Ensembl:ENSG00000174437 euGenes: HUgn488
    ECgene: ATP2A2 Kegg: 488 H-InvDB: ATP2A2

    (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 ATP2A2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ATP2A2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ATP2A2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ATP2A2 gene:
    Search GeneIP for patents involving ATP2A2

    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
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