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CASQ2 (calsequestrin 2)

Identity

Alias_namescalsequestrin 2 (cardiac muscle)
Alias_symbol (synonym)PDIB2
Other alias
HGNC (Hugo) CASQ2
LocusID (NCBI) 845
Atlas_Id 54979
Location 1p13.1  [Link to chromosome band 1p13]
Location_base_pair Starts at 116242626 and ends at 116311426 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ARHGDIB (12p12.3) / CASQ2 (1p13.1)GNAI3 (1p13.3) / CASQ2 (1p13.1)LRP5 (11q13.2) / CASQ2 (1p13.1)
GNAI3 1p13.3 / CASQ2 1p13.1LRP5 11q13.2 / CASQ2 1p13.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CASQ2   1513
LRG (Locus Reference Genomic)LRG_404
Cards
Entrez_Gene (NCBI)CASQ2  845  calsequestrin 2
AliasesPDIB2
GeneCards (Weizmann)CASQ2
Ensembl hg19 (Hinxton)ENSG00000118729 [Gene_View]  chr1:116242626-116311426 [Contig_View]  CASQ2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000118729 [Gene_View]  chr1:116242626-116311426 [Contig_View]  CASQ2 [Vega]
ICGC DataPortalENSG00000118729
TCGA cBioPortalCASQ2
AceView (NCBI)CASQ2
Genatlas (Paris)CASQ2
WikiGenes845
SOURCE (Princeton)CASQ2
Genetics Home Reference (NIH)CASQ2
Genomic and cartography
GoldenPath hg19 (UCSC)CASQ2  -     chr1:116242626-116311426 -  1p13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CASQ2  -     1p13.1   [Description]    (hg38-Dec_2013)
EnsemblCASQ2 - 1p13.1 [CytoView hg19]  CASQ2 - 1p13.1 [CytoView hg38]
Mapping of homologs : NCBICASQ2 [Mapview hg19]  CASQ2 [Mapview hg38]
OMIM114251   604772   611938   
Gene and transcription
Genbank (Entrez)AK129831 AK129891 AK225959 AK293595 AK295502
RefSeq transcript (Entrez)NM_001232
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_008802 NT_032977 NW_004929290
Consensus coding sequences : CCDS (NCBI)CASQ2
Cluster EST : UnigeneHs.57975 [ NCBI ]
CGAP (NCI)Hs.57975
Alternative Splicing GalleryENSG00000118729
Gene ExpressionCASQ2 [ NCBI-GEO ]   CASQ2 [ EBI - ARRAY_EXPRESS ]   CASQ2 [ SEEK ]   CASQ2 [ MEM ]
Gene Expression Viewer (FireBrowse)CASQ2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)845
GTEX Portal (Tissue expression)CASQ2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14958   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14958  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14958
Splice isoforms : SwissVarO14958
PhosPhoSitePlusO14958
Domaine pattern : Prosite (Expaxy)CALSEQUESTRIN_1 (PS00863)    CALSEQUESTRIN_2 (PS00864)   
Domains : Interpro (EBI)Calsequestrin    Calsequestrin_CS    Thioredoxin-like_fold   
Domain families : Pfam (Sanger)Calsequestrin (PF01216)   
Domain families : Pfam (NCBI)pfam01216   
Conserved Domain (NCBI)CASQ2
DMDM Disease mutations845
Blocks (Seattle)CASQ2
PDB (SRS)2VAF   
PDB (PDBSum)2VAF   
PDB (IMB)2VAF   
PDB (RSDB)2VAF   
Structural Biology KnowledgeBase2VAF   
SCOP (Structural Classification of Proteins)2VAF   
CATH (Classification of proteins structures)2VAF   
SuperfamilyO14958
Human Protein AtlasENSG00000118729
Peptide AtlasO14958
HPRD00256
IPIIPI00298933   IPI00908384   IPI00909474   
Protein Interaction databases
DIP (DOE-UCLA)O14958
IntAct (EBI)O14958
FunCoupENSG00000118729
BioGRIDCASQ2
STRING (EMBL)CASQ2
ZODIACCASQ2
Ontologies - Pathways
QuickGOO14958
Ontology : AmiGOregulation of heart rate  calcium ion binding  detection of calcium ion  protein binding  intracellular  cytoplasm  voltage-gated calcium channel complex  striated muscle contraction  regulation of cell communication by electrical coupling  regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  junctional sarcoplasmic reticulum membrane  sarcoplasmic reticulum  Z disc  junctional membrane complex  sarcoplasmic reticulum membrane  sarcoplasmic reticulum lumen  ion transmembrane transport  calcium channel complex  protein homodimerization activity  negative regulation of potassium ion transport  sarcomere organization  calcium-dependent protein binding  sequestering of calcium ion  sequestering of calcium ion  protein polymerization  cardiac muscle contraction  regulation of membrane repolarization  negative regulation of ryanodine-sensitive calcium-release channel activity  negative regulation of ryanodine-sensitive calcium-release channel activity  cellular response to caffeine  Purkinje myocyte to ventricular cardiac muscle cell signaling  negative regulation of potassium ion transmembrane transporter activity  regulation of cardiac conduction  
Ontology : EGO-EBIregulation of heart rate  calcium ion binding  detection of calcium ion  protein binding  intracellular  cytoplasm  voltage-gated calcium channel complex  striated muscle contraction  regulation of cell communication by electrical coupling  regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  junctional sarcoplasmic reticulum membrane  sarcoplasmic reticulum  Z disc  junctional membrane complex  sarcoplasmic reticulum membrane  sarcoplasmic reticulum lumen  ion transmembrane transport  calcium channel complex  protein homodimerization activity  negative regulation of potassium ion transport  sarcomere organization  calcium-dependent protein binding  sequestering of calcium ion  sequestering of calcium ion  protein polymerization  cardiac muscle contraction  regulation of membrane repolarization  negative regulation of ryanodine-sensitive calcium-release channel activity  negative regulation of ryanodine-sensitive calcium-release channel activity  cellular response to caffeine  Purkinje myocyte to ventricular cardiac muscle cell signaling  negative regulation of potassium ion transmembrane transporter activity  regulation of cardiac conduction  
NDEx NetworkCASQ2
Atlas of Cancer Signalling NetworkCASQ2
Wikipedia pathwaysCASQ2
Orthology - Evolution
OrthoDB845
GeneTree (enSembl)ENSG00000118729
Phylogenetic Trees/Animal Genes : TreeFamCASQ2
HOVERGENO14958
HOGENOMO14958
Homologs : HomoloGeneCASQ2
Homology/Alignments : Family Browser (UCSC)CASQ2
Gene fusions - Rearrangements
Fusion : MitelmanGNAI3/CASQ2 [1p13.3/1p13.1]  [t(1;1)(p13;p13)]  
Fusion : MitelmanLRP5/CASQ2 [11q13.2/1p13.1]  [t(1;11)(p13;q13)]  
Fusion: TCGAGNAI3 1p13.3 CASQ2 1p13.1 BRCA
Fusion: TCGALRP5 11q13.2 CASQ2 1p13.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCASQ2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CASQ2
dbVarCASQ2
ClinVarCASQ2
1000_GenomesCASQ2 
Exome Variant ServerCASQ2
ExAC (Exome Aggregation Consortium)CASQ2 (select the gene name)
Genetic variants : HAPMAP845
Genomic Variants (DGV)CASQ2 [DGVbeta]
DECIPHER (Syndromes)1:116242626-116311426  ENSG00000118729
CONAN: Copy Number AnalysisCASQ2 
Mutations
ICGC Data PortalCASQ2 
TCGA Data PortalCASQ2 
Broad Tumor PortalCASQ2
OASIS PortalCASQ2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCASQ2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCASQ2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch CASQ2
DgiDB (Drug Gene Interaction Database)CASQ2
DoCM (Curated mutations)CASQ2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CASQ2 (select a term)
intoGenCASQ2
Cancer3DCASQ2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114251    604772    611938   
Orphanet3525   
MedgenCASQ2
Genetic Testing Registry CASQ2
NextProtO14958 [Medical]
TSGene845
GENETestsCASQ2
Huge Navigator CASQ2 [HugePedia]
snp3D : Map Gene to Disease845
BioCentury BCIQCASQ2
ClinGenCASQ2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD845
Chemical/Pharm GKB GenePA26096
Clinical trialCASQ2
Miscellaneous
canSAR (ICR)CASQ2 (select the gene name)
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCASQ2
EVEXCASQ2
GoPubMedCASQ2
iHOPCASQ2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Mar 30 14:55:07 CEST 2017

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