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CRACR2B (calcium release activated channel regulator 2B)

Identity

Alias (NCBI)EFCAB4A
HGNC (Hugo) CRACR2B
HGNC Alias symbMGC45840
HGNC Alias nameCa2+ release-activated Ca2+ (CRAC) channel regulator 2B
 CRAC regulator 2B
HGNC Previous nameEFCAB4A
HGNC Previous nameEF-hand calcium binding domain 4A
LocusID (NCBI) 283229
Atlas_Id 54235
Location 11p15.5  [Link to chromosome band 11p15]
Location_base_pair Starts at 828260 and ends at 831991 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CD151 (11p15.5) / CRACR2B (11p15.5)CRACR2B (11p15.5) / WDTC1 (1p36.11)PRKRIP1 (7q22.1) / CRACR2B (11p15.5)
WDTC1 (1p36.11) / CRACR2B (11p15.5)

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  t(1;11)(p36;p15) CRACR2B/WDTC1
t(1;11)(p36;p15) WDTC1/CRACR2B
t(7;11)(q22;p15) PRKRIP1/CRACR2B
CD151/CRACR2B (11p15)

External links

Nomenclature
HGNC (Hugo)CRACR2B   28703
Cards
Entrez_Gene (NCBI)CRACR2B  283229  calcium release activated channel regulator 2B
AliasesEFCAB4A
GeneCards (Weizmann)CRACR2B
Ensembl hg19 (Hinxton)ENSG00000177685 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000177685 [Gene_View]  ENSG00000177685 [Sequence]  chr11:828260-831991 [Contig_View]  CRACR2B [Vega]
ICGC DataPortalENSG00000177685
TCGA cBioPortalCRACR2B
AceView (NCBI)CRACR2B
Genatlas (Paris)CRACR2B
WikiGenes283229
SOURCE (Princeton)CRACR2B
Genetics Home Reference (NIH)CRACR2B
Genomic and cartography
GoldenPath hg38 (UCSC)CRACR2B  -     chr11:828260-831991 +  11p15.5   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CRACR2B  -     11p15.5   [Description]    (hg19-Feb_2009)
GoldenPathCRACR2B - 11p15.5 [CytoView hg19]  CRACR2B - 11p15.5 [CytoView hg38]
ImmunoBaseENSG00000177685
genome Data Viewer NCBICRACR2B [Mapview hg19]  
OMIM614177   
Gene and transcription
Genbank (Entrez)AK075180 AK097334 AK127926 AK304093 BC033196
RefSeq transcript (Entrez)NM_001286606 NM_173584
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CRACR2B
Alternative Splicing GalleryENSG00000177685
Gene ExpressionCRACR2B [ NCBI-GEO ]   CRACR2B [ EBI - ARRAY_EXPRESS ]   CRACR2B [ SEEK ]   CRACR2B [ MEM ]
Gene Expression Viewer (FireBrowse)CRACR2B [ Firebrowse - Broad ]
GenevisibleExpression of CRACR2B in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)283229
GTEX Portal (Tissue expression)CRACR2B
Human Protein AtlasENSG00000177685-CRACR2B [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N4Y2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N4Y2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N4Y2
Splice isoforms : SwissVarQ8N4Y2
PhosPhoSitePlusQ8N4Y2
Domaine pattern : Prosite (Expaxy)EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_hand_dom   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)CRACR2B
DMDM Disease mutations283229
Blocks (Seattle)CRACR2B
SuperfamilyQ8N4Y2
Human Protein Atlas [tissue]ENSG00000177685-CRACR2B [tissue]
Peptide AtlasQ8N4Y2
HPRD14645
IPIIPI00166814   IPI00844333   IPI00969076   IPI00908517   IPI00444172   IPI00976103   IPI00975741   IPI00980008   
Protein Interaction databases
DIP (DOE-UCLA)Q8N4Y2
IntAct (EBI)Q8N4Y2
FunCoupENSG00000177685
BioGRIDCRACR2B
STRING (EMBL)CRACR2B
ZODIACCRACR2B
Ontologies - Pathways
QuickGOQ8N4Y2
Ontology : AmiGOstore-operated calcium entry  calcium ion binding  protein binding  cytoplasm  cellular protein localization  regulation of store-operated calcium entry  
Ontology : EGO-EBIstore-operated calcium entry  calcium ion binding  protein binding  cytoplasm  cellular protein localization  regulation of store-operated calcium entry  
NDEx NetworkCRACR2B
Atlas of Cancer Signalling NetworkCRACR2B
Wikipedia pathwaysCRACR2B
Orthology - Evolution
OrthoDB283229
GeneTree (enSembl)ENSG00000177685
Phylogenetic Trees/Animal Genes : TreeFamCRACR2B
HOGENOMQ8N4Y2
Homologs : HomoloGeneCRACR2B
Homology/Alignments : Family Browser (UCSC)CRACR2B
Gene fusions - Rearrangements
Fusion : MitelmanCD151/CRACR2B [11p15.5/11p15.5]  
Fusion : MitelmanCRACR2B/WDTC1 [11p15.5/1p36.11]  
Fusion : MitelmanPRKRIP1/CRACR2B [7q22.1/11p15.5]  
Fusion : MitelmanWDTC1/CRACR2B [1p36.11/11p15.5]  
Fusion : QuiverCRACR2B
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCRACR2B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CRACR2B
dbVarCRACR2B
ClinVarCRACR2B
MonarchCRACR2B
1000_GenomesCRACR2B 
Exome Variant ServerCRACR2B
GNOMAD BrowserENSG00000177685
Varsome BrowserCRACR2B
Genetic variants : HAPMAP283229
Genomic Variants (DGV)CRACR2B [DGVbeta]
DECIPHERCRACR2B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCRACR2B 
Mutations
ICGC Data PortalCRACR2B 
TCGA Data PortalCRACR2B 
Broad Tumor PortalCRACR2B
OASIS PortalCRACR2B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCRACR2B  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCRACR2B
Mutations and Diseases : HGMDCRACR2B
BioMutasearch CRACR2B
DgiDB (Drug Gene Interaction Database)CRACR2B
DoCM (Curated mutations)CRACR2B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CRACR2B (select a term)
intoGenCRACR2B
Cancer3DCRACR2B(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614177   
Orphanet
DisGeNETCRACR2B
MedgenCRACR2B
Genetic Testing Registry CRACR2B
NextProtQ8N4Y2 [Medical]
TSGene283229
GENETestsCRACR2B
Target ValidationCRACR2B
Huge Navigator CRACR2B [HugePedia]
snp3D : Map Gene to Disease283229
BioCentury BCIQCRACR2B
ClinGenCRACR2B
Clinical trials, drugs, therapy
Protein Interactions : CTD283229
Pharm GKB GenePA144596437
Clinical trialCRACR2B
Miscellaneous
canSAR (ICR)CRACR2B (select the gene name)
HarmonizomeCRACR2B
DataMed IndexCRACR2B
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCRACR2B
EVEXCRACR2B
GoPubMedCRACR2B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 14 14:07:12 CEST 2020
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