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    ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 [ Homo sapiens ]

    Gene ID: 488, updated on 19-May-2012

    Summary

    Official Symbol
    ATP2A2provided by HGNC
    Official Full Name
    ATPase, Ca++ transporting, cardiac muscle, slow twitch 2provided by HGNC
    Primary source
    HGNC:812
    See related
    Ensembl:ENSG00000174437; HPRD:00161; MIM:108740; Vega:OTTHUMG00000169327
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DD; DAR; ATP2B; SERCA2; FLJ20293; FLJ38063; MGC45367; DKFZp686P0211
    Summary
    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]

    Genomic context

    Location :
    12q24.11
    Sequence :
    Chromosome: 12; NC_000012.11 (110719032..110788898)
    See ATP2A2 in Epigenomics, MapViewer

    Chromosome 12 - NC_000012.11Genomic Context describing neighboring genes Neighboring gene chromosome 12 open reading frame 76 Neighboring gene intraflagellar transport 81 homolog (Chlamydomonas) Neighboring gene anaphase promoting complex subunit 7 Neighboring gene high mobility group AT-hook 1 pseudogene 3

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_733765.1     BIND  PubMed SERCA2 interacts with GSH. 
    P16615 P16615 ATP2A2    HPRD  PubMed  
    P16615 P10415 BCL2    HPRD  PubMed  
    P16615 Q9UQM7 CAMK2A    HPRD  PubMed  
    P16615 P35568 IRS1    HPRD  PubMed  
    P16615 Q9Y4H2 IRS2    HPRD  PubMed  
    P16615 P26678 PLN    HPRD  PubMed  
    P16615 P23297 S100A1    HPRD  PubMed  
    BioGRID:106978 BioGRID:106764 AMFR    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106978 BioGRID:115331 HDAC5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106978 BioGRID:114593 HGS    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106978 BioGRID:111365 PLN    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:106978 BioGRID:116327 PTP4A3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106978 BioGRID:112179 S100A1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106978 BioGRID:112474 SLN    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106978 BioGRID:113188 SUMO1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106978 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106978 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Alzheimer's disease, organism-specific biosystem (from KEGG)
      Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimer's disease, conserved biosystem (from KEGG)
      Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Calcium Regulation in the Cardiac Cell, organism-specific biosystem (from WikiPathways)
      Calcium Regulation in the Cardiac Cell, organism-specific biosystemCalcium is a common signaling mechanism, as once it enters the cytoplasm it exerts allosteric regulatory affects on many enzymes and proteins. Calcium can act in signal transduction after influx resu...
    • Calcium signaling pathway, organism-specific biosystem (from KEGG)
      Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Calcium signaling pathway, conserved biosystem (from KEGG)
      Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Cardiac muscle contraction, organism-specific biosystem (from KEGG)
      Cardiac muscle contraction, organism-specific biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Cardiac muscle contraction, conserved biosystem (from KEGG)
      Cardiac muscle contraction, conserved biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
      Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Dilated cardiomyopathy, conserved biosystem (from KEGG)
      Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Ion channel transport, organism-specific biosystem (from REACTOME)
      Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
    • Ion transport by P-type ATPases, organism-specific biosystem (from REACTOME)
      Ion transport by P-type ATPases, organism-specific biosystemThe P-type ATPases (E1-E2 ATPases) are a large group of evolutionarily related ion pumps that are found in bacteria, archaea and eukaryotes. They are referred to as P-type ATPases because they catal...
    • Myometrial Relaxation and Contraction Pathways, organism-specific biosystem (from WikiPathways)
      Myometrial Relaxation and Contraction Pathways, organism-specific biosystemThis pathway illustrates signaling networks implicated in uterine muscle contraction at labor and quiescence throughout gestation (pregnancy). The muscle of the uterus, responsible for contractile ac...
    • Pancreatic secretion, organism-specific biosystem (from KEGG)
      Pancreatic secretion, organism-specific biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
    • Pancreatic secretion, conserved biosystem (from KEGG)
      Pancreatic secretion, conserved biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
    • Platelet calcium homeostasis, organism-specific biosystem (from REACTOME)
      Platelet calcium homeostasis, organism-specific biosystemCa2+ homeostasis is controlled by processes that elevate or counter the elevation of cytosolic Ca2+. During steady state conditions, cytoplasmic Ca2+ is reduced by the accumulation of Ca2+ in intrac...
    • Platelet homeostasis, organism-specific biosystem (from REACTOME)
      Platelet homeostasis, organism-specific biosystemUnder normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhesion and activation, suppresses coagulation, enhances fibrin cleavage and is anti-inflammatory in charact...
    • Pre-NOTCH Expression and Processing, organism-specific biosystem (from REACTOME)
      Pre-NOTCH Expression and Processing, organism-specific biosystemIn humans and other mammals the NOTCH gene family has four members, NOTCH1, NOTCH2, NOTCH3 and NOTCH4, encoded on four different chromosomes. Their transcription is developmentally regulated and tiss...
    • Pre-NOTCH Processing in Golgi, organism-specific biosystem (from REACTOME)
      Pre-NOTCH Processing in Golgi, organism-specific biosystemNOTCH undergoes final posttranslational processing in the Golgi apparatus (Lardelli et al. 1994, Blaumueller et al. 1997, Weinmaster et al. 1991, Weinmaster et al. 1992, Uyttendaele et al. 1996). Mov...
    • Reduction of cytosolic Ca++ levels, organism-specific biosystem (from REACTOME)
      Reduction of cytosolic Ca++ levels, organism-specific biosystemDuring steady state conditions, cytoplasmic [Ca2+] is reduced by the accumulation of Ca2+ in intracellular stores and Ca2+ extrusion.
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by NOTCH, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH, organism-specific biosystemThe Notch Signaling Pathway (NSP) is a highly conserved pathway for cell-cell communication. NSP is involved in the regulation of cellular differentiation, proliferation, and specification. For exam...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    S100 alpha binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    calcium-transporting ATPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein C-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    ATP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    cation transport IEA
    Inferred from Electronic Annotation
    more info
     
    cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    epidermis development TAS
    Traceable Author Statement
    more info
    PubMed 
    ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    sarcoplasmic reticulum calcium ion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    transport TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral to plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane fraction TAS
    Traceable Author Statement
    more info
    PubMed 
    microsome TAS
    Traceable Author Statement
    more info
    PubMed 
    platelet dense tubular network membrane TAS
    Traceable Author Statement
    more info
     
    sarcoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sarcoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    sarcoplasmic/endoplasmic reticulum calcium ATPase 2
    Names
    sarcoplasmic/endoplasmic reticulum calcium ATPase 2
    calcium pump 2
    SR Ca(2+)-ATPase 2
    cardiac Ca2+ ATPase
    endoplasmic reticulum class 1/2 Ca(2+) ATPase
    ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2
    calcium-transporting ATPase sarcoplasmic reticulum type, slow twitch skeletal muscle isoform
    NP_001672.1
    NP_733765.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007097.2 RefSeqGene

      Range
      4601..74467
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001681.3NP_001672.1  sarcoplasmic/endoplasmic reticulum calcium ATPase 2 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a) differs in the 3' coding region and 3' UTR, resulting in an alternate termination codon, compared to variant 1. The encoded isoform (a, also known as SERCA2a, S2a or HK2) has a shorter and distinct C-terminus, compared to isoform b.
      Source sequence(s)
      AK000300, BG773489, BI553880, M23115
      Consensus CDS
      CCDS9143.1
      UniProtKB/Swiss-Prot
      P16615
      Related
      ENSP00000311186, OTTHUMP00000240820, ENST00000308664, OTTHUMT00000403537
      Conserved Domains (6) summary
      TIGR01116
      Location:53988
      Blast Score: 4346
      ATPase-IIA1_Ca; sarco/endoplasmic reticulum calcium-translocating P-type ATPase
      pfam00122
      Location:93341
      Blast Score: 546
      E1-E2_ATPase; E1-E2 ATPase
      pfam00689
      Location:783986
      Blast Score: 399
      Cation_ATPase_C; Cation transporting ATPase, C-terminus
      pfam13246
      Location:418527
      Blast Score: 257
      Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
      cl02930
      Location:472
      Blast Score: 198
      Cation_ATPase_N; Cation transporter/ATPase, N-terminus
      cl11391
      Location:597711
      Blast Score: 107
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    2. NM_170665.3NP_733765.1  sarcoplasmic/endoplasmic reticulum calcium ATPase 2 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b) represents the longer transcript and encodes the longer isoform (b, also known as SERCA2b, S2b or HK1).
      Source sequence(s)
      AK000300, BC035588, BG773489, BI553880, BX648282
      Consensus CDS
      CCDS9144.1
      UniProtKB/Swiss-Prot
      P16615
      Related
      ENSP00000440045, OTTHUMP00000240822, ENST00000539276, OTTHUMT00000403539
      Conserved Domains (6) summary
      TIGR01116
      Location:53988
      Blast Score: 4348
      ATPase-IIA1_Ca; sarco/endoplasmic reticulum calcium-translocating P-type ATPase
      pfam00122
      Location:93341
      Blast Score: 550
      E1-E2_ATPase; E1-E2 ATPase
      pfam00689
      Location:783986
      Blast Score: 398
      Cation_ATPase_C; Cation transporting ATPase, C-terminus
      pfam13246
      Location:418527
      Blast Score: 258
      Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
      cl02930
      Location:472
      Blast Score: 199
      Cation_ATPase_N; Cation transporter/ATPase, N-terminus
      cl11391
      Location:597711
      Blast Score: 108
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000012.11 Reference GRCh37.p5 Primary Assembly

      Range
      110719032..110788898
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000144.1 Alternate HuRef

      Range
      107737670..107807502
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001135765.1: Suppressed sequence

      Description
      NM_001135765.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC006088.1 (42272..111735) None
    genomic CH471054.1 EAW97902.1
      EAW97903.1
      EAW97904.1
      EAW97905.1
      EAW97906.1
      EAW97907.1
    genomic M23116.1 AAA52757.1
      AAA52758.1
    genomic M23278.1 AAA52758.1
    mRNA AK000300.1 None
    mRNA AK095382.1 None
    mRNA AK293877.1 BAG57266.1
    mRNA AY186578.1 AAO47398.1
    mRNA BC035588.1 AAH35588.1
    mRNA BC065753.1 None
    mRNA BG773489.1 None
    mRNA BI553880.1 None
    mRNA BX648282.1 None
    mRNA M23114.1 AAA53193.1
    mRNA M23115.1 AAA53194.1
    mRNA AL117505.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    P16615.1 GenPept UniProtKB/Swiss-Prot:P16615

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