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CASQ2 calsequestrin 2 [ Homo sapiens (human) ]

Gene ID: 845, updated on 7-Oct-2018

Summary

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]
Expression
Biased expression in heart (RPKM 404.6), urinary bladder (RPKM 24.0) and 2 other tissues See more
Orthologs

Genomic context

See CASQ2 in Genome Data Viewer
Location:
1p13.1
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

Genomic regions, transcripts, and products

Expression

  • 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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ26321, FLJ93514

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcoplasmic reticulum lumen IC
Inferred by Curator
more info
PubMed 
sarcoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
calsequestrin-2
Names
calsequestrin 2 (cardiac muscle)
calsequestrin 2, fast-twitch, cardiac muscle
calsequestrin, cardiac muscle isoform

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_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 (1) summary
    cl26077
    Location:22371
    Thioredoxin_6; Thioredoxin-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

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