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    CASQ2 calsequestrin 2 [ Homo sapiens (human) ]

    Gene ID: 845, updated on 20-Apr-2017
    Official Symbol
    CASQ2provided by HGNC
    Official Full Name
    calsequestrin 2provided by HGNC
    Primary source
    HGNC:HGNC:1513
    See related
    Ensembl:ENSG00000118729 MIM:114251; Vega:OTTHUMG00000011970
    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
    PDIB2
    Summary
    The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    1p13.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (115700003..115768805, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (116242624..116311426, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 420, pseudogene Neighboring gene VANGL planar cell polarity protein 1 Neighboring gene nescient helix-loop-helix 2 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 43

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ26321, FLJ93514

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium-dependent protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    Purkinje myocyte to ventricular cardiac muscle cell signaling NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cardiac muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to caffeine IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    detection of calcium ion TAS
    Traceable Author Statement
    more info
    PubMed 
    ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    negative regulation of potassium ion transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    negative regulation of potassium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    negative regulation of ryanodine-sensitive calcium-release channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of ryanodine-sensitive calcium-release channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein polymerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cardiac conduction TAS
    Traceable Author Statement
    more info
     
    regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cell communication by electrical coupling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of heart rate IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of membrane repolarization ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sarcomere organization IEA
    Inferred from Electronic Annotation
    more info
     
    sequestering of calcium ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sequestering of calcium ion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    striated muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    Z disc ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    calcium channel complex TAS
    Traceable Author Statement
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    junctional membrane complex IEA
    Inferred from Electronic Annotation
    more info
     
    junctional sarcoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    sarcoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sarcoplasmic reticulum lumen IC
    Inferred by Curator
    more info
    PubMed 
    sarcoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    colocalizes_with voltage-gated calcium channel complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    calsequestrin-2
    Names
    calsequestrin 2 (cardiac muscle)
    calsequestrin 2, fast-twitch, cardiac muscle
    calsequestrin, cardiac muscle isoform

    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_008802.1 RefSeqGene

      Range
      5001..73803
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_404

    mRNA and Protein(s)

    1. NM_001232.3NP_001223.2  calsequestrin-2 precursor

      See identical proteins and their annotated locations for NP_001223.2

      Status: REVIEWED

      Source sequence(s)
      BM679349, D55655, DC423064
      Consensus CDS
      CCDS884.1
      UniProtKB/Swiss-Prot
      O14958
      Related
      ENSP00000261448.5, OTTHUMP00000013749, ENST00000261448.5, OTTHUMT00000033091
      Conserved Domains (4) summary
      cd03065
      Location:24143
      PDI_b_Calsequestrin_N; PDIb family, Calsequestrin subfamily, N-terminal TRX-fold domain; Calsequestrin is the major calcium storage protein in the sarcoplasmic reticulum (SR) of skeletal and cardiac muscle. It stores calcium ions in sufficient quantities (up to 20 mM) to allow ...
      cd03066
      Location:145246
      PDI_b_Calsequestrin_middle; PDIb family, Calsequestrin subfamily, Middle TRX-fold domain; Calsequestrin is the major calcium storage protein in the sarcoplasmic reticulum (SR) of skeletal and cardiac muscle. It stores calcium ions in sufficient quantities (up to 20 mM) to allow ...
      cd03074
      Location:247366
      PDI_b'_Calsequestrin_C; Protein Disulfide Isomerase (PDIb') family, Calsequestrin subfamily, C-terminal TRX-fold domain; Calsequestrin is the major calcium storage protein in the sarcoplasmic reticulum (SR) of skeletal and cardiac muscle. It stores calcium ions in sufficient ...
      pfam01216
      Location:22371
      Calsequestrin; Calsequestrin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      115700003..115768805 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      116357421..116426262 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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