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EFCAB2 (EF-hand calcium binding domain 2)

Identity

Alias_symbol (synonym)MGC12458
DRC8
CFAP200
Other alias
HGNC (Hugo) EFCAB2
LocusID (NCBI) 84288
Atlas_Id 62741
Location 1q44  [Link to chromosome band 1q44]
Location_base_pair Starts at 244970329 and ends at 245125228 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)
BBS2 (16q12.2) / EFCAB2 (1q44)EFCAB2 (1q44) / SDCCAG8 (1q43)FGR (1p36.11) / EFCAB2 (1q44)

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)EFCAB2   28166
Cards
Entrez_Gene (NCBI)EFCAB2  84288  EF-hand calcium binding domain 2
AliasesCFAP200; DRC8
GeneCards (Weizmann)EFCAB2
Ensembl hg19 (Hinxton)ENSG00000203666 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000203666 [Gene_View]  chr1:244970329-245125228 [Contig_View]  EFCAB2 [Vega]
ICGC DataPortalENSG00000203666
TCGA cBioPortalEFCAB2
AceView (NCBI)EFCAB2
Genatlas (Paris)EFCAB2
WikiGenes84288
SOURCE (Princeton)EFCAB2
Genetics Home Reference (NIH)EFCAB2
Genomic and cartography
GoldenPath hg38 (UCSC)EFCAB2  -     chr1:244970329-245125228 +  1q44   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EFCAB2  -     1q44   [Description]    (hg19-Feb_2009)
EnsemblEFCAB2 - 1q44 [CytoView hg19]  EFCAB2 - 1q44 [CytoView hg38]
Mapping of homologs : NCBIEFCAB2 [Mapview hg19]  EFCAB2 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB209286 AI038779 AI796049 AI911515 AK001393
RefSeq transcript (Entrez)NM_001143943 NM_001290327 NM_032328
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EFCAB2
Cluster EST : UnigeneHs.134857 [ NCBI ]
CGAP (NCI)Hs.134857
Alternative Splicing GalleryENSG00000203666
Gene ExpressionEFCAB2 [ NCBI-GEO ]   EFCAB2 [ EBI - ARRAY_EXPRESS ]   EFCAB2 [ SEEK ]   EFCAB2 [ MEM ]
Gene Expression Viewer (FireBrowse)EFCAB2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84288
GTEX Portal (Tissue expression)EFCAB2
Human Protein AtlasENSG00000203666-EFCAB2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5VUJ9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5VUJ9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5VUJ9
Splice isoforms : SwissVarQ5VUJ9
PhosPhoSitePlusQ5VUJ9
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)
Domain families : Smart (EMBL)EFh (SM00054)  
Conserved Domain (NCBI)EFCAB2
DMDM Disease mutations84288
Blocks (Seattle)EFCAB2
SuperfamilyQ5VUJ9
Human Protein Atlas [tissue]ENSG00000203666-EFCAB2 [tissue]
Peptide AtlasQ5VUJ9
HPRD14423
IPIIPI00031574   IPI00874172   IPI00964660   IPI00479504   IPI00646485   IPI00942573   
Protein Interaction databases
DIP (DOE-UCLA)Q5VUJ9
IntAct (EBI)Q5VUJ9
FunCoupENSG00000203666
BioGRIDEFCAB2
STRING (EMBL)EFCAB2
ZODIACEFCAB2
Ontologies - Pathways
QuickGOQ5VUJ9
Ontology : AmiGOcalcium ion binding  
Ontology : EGO-EBIcalcium ion binding  
NDEx NetworkEFCAB2
Atlas of Cancer Signalling NetworkEFCAB2
Wikipedia pathwaysEFCAB2
Orthology - Evolution
OrthoDB84288
GeneTree (enSembl)ENSG00000203666
Phylogenetic Trees/Animal Genes : TreeFamEFCAB2
HOVERGENQ5VUJ9
HOGENOMQ5VUJ9
Homologs : HomoloGeneEFCAB2
Homology/Alignments : Family Browser (UCSC)EFCAB2
Gene fusions - Rearrangements
Tumor Fusion PortalEFCAB2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEFCAB2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EFCAB2
dbVarEFCAB2
ClinVarEFCAB2
1000_GenomesEFCAB2 
Exome Variant ServerEFCAB2
ExAC (Exome Aggregation Consortium)ENSG00000203666
GNOMAD BrowserENSG00000203666
Genetic variants : HAPMAP84288
Genomic Variants (DGV)EFCAB2 [DGVbeta]
DECIPHEREFCAB2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEFCAB2 
Mutations
ICGC Data PortalEFCAB2 
TCGA Data PortalEFCAB2 
Broad Tumor PortalEFCAB2
OASIS PortalEFCAB2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEFCAB2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEFCAB2
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
BioMutasearch EFCAB2
DgiDB (Drug Gene Interaction Database)EFCAB2
DoCM (Curated mutations)EFCAB2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EFCAB2 (select a term)
intoGenEFCAB2
Cancer3DEFCAB2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETEFCAB2
MedgenEFCAB2
Genetic Testing Registry EFCAB2
NextProtQ5VUJ9 [Medical]
TSGene84288
GENETestsEFCAB2
Target ValidationEFCAB2
Huge Navigator EFCAB2 [HugePedia]
snp3D : Map Gene to Disease84288
BioCentury BCIQEFCAB2
ClinGenEFCAB2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84288
Chemical/Pharm GKB GenePA142671914
Clinical trialEFCAB2
Miscellaneous
canSAR (ICR)EFCAB2 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEFCAB2
EVEXEFCAB2
GoPubMedEFCAB2
iHOPEFCAB2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Nov 20 19:27:18 CET 2017

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