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EFCAB5 (EF-hand calcium binding domain 5)

Identity

Other names-
HGNC (Hugo) EFCAB5
LocusID (NCBI) 374786
Location 17q11.2
Location_base_pair Starts at 28256874 and ends at 28401643 bp from pter ( according to hg19-Feb_2009)
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

External links

Nomenclature
HGNC (Hugo)EFCAB5   24801
Cards
Entrez_Gene (NCBI)EFCAB5  374786  EF-hand calcium binding domain 5
GeneCards (Weizmann)EFCAB5
Ensembl (Hinxton)ENSG00000176927 [Gene_View]  chr17:28256874-28401643 [Contig_View]  EFCAB5 [Vega]
ICGC DataPortalENSG00000176927
cBioPortalEFCAB5
AceView (NCBI)EFCAB5
Genatlas (Paris)EFCAB5
WikiGenes374786
SOURCE (Princeton)NM_001033562 NM_001145053 NM_198529
Genomic and cartography
GoldenPath (UCSC)EFCAB5  -  17q11.2   chr17:28256874-28401643 +  17q11.2   [Description]    (hg19-Feb_2009)
EnsemblEFCAB5 - 17q11.2 [CytoView]
Mapping of homologs : NCBIEFCAB5 [Mapview]
Gene and transcription
Genbank (Entrez)AK128126 AK299608 AK302745 AK303060 AL833911
RefSeq transcript (Entrez)NM_001033562 NM_001145053 NM_198529
RefSeq genomic (Entrez)AC_000149 NC_000017 NC_018928 NT_010783 NW_001838430 NW_004929407
Consensus coding sequences : CCDS (NCBI)EFCAB5
Cluster EST : UnigeneHs.662411 [ NCBI ]
CGAP (NCI)Hs.662411
Alternative Splicing : Fast-db (Paris)GSHG0012361
Alternative Splicing GalleryENSG00000176927
Gene ExpressionEFCAB5 [ NCBI-GEO ]     EFCAB5 [ SEEK ]   EFCAB5 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtA4FU69 (Uniprot)
NextProtA4FU69  [Medical]
With graphics : InterProA4FU69
Splice isoforms : SwissVarA4FU69 (Swissvar)
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)EF-hand-dom_pair [organisation]   EF_Hand_1_Ca_BS [organisation]   EF_hand_dom [organisation]   GAF [organisation]   GAF_dom_like [organisation]  
Related proteins : CluSTrA4FU69
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)GAF (SM00065)  
DMDM Disease mutations374786
Blocks (Seattle)A4FU69
Human Protein AtlasENSG00000176927 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasA4FU69
HPRD13528
IPIIPI00791236   IPI00394857   IPI00874210   IPI01012592   IPI00879363   IPI00984678   IPI01012188   IPI01011229   IPI00913929   IPI00878520   IPI00871427   
Protein Interaction databases
DIP (DOE-UCLA)A4FU69
IntAct (EBI)A4FU69
FunCoupENSG00000176927
BioGRIDEFCAB5
InParanoidA4FU69
Interologous Interaction database A4FU69
IntegromeDBEFCAB5
STRING (EMBL)EFCAB5
Ontologies - Pathways
Ontology : AmiGOcalcium ion binding  
Ontology : EGO-EBIcalcium ion binding  
Protein Interaction DatabaseEFCAB5
Wikipedia pathwaysEFCAB5
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)EFCAB5
snp3D : Map Gene to Disease374786
SNP (GeneSNP Utah)EFCAB5
SNP : HGBaseEFCAB5
Genetic variants : HAPMAPEFCAB5
Exome VariantEFCAB5
1000_GenomesEFCAB5 
ICGC programENSG00000176927 
Somatic Mutations in Cancer : COSMICEFCAB5 
CONAN: Copy Number AnalysisEFCAB5 
Mutations and Diseases : HGMDEFCAB5
Mutations and Diseases : intOGenEFCAB5
Genomic VariantsEFCAB5  EFCAB5 [DGVbeta]
dbVarEFCAB5
ClinVarEFCAB5
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM
MedgenEFCAB5
GENETestsEFCAB5
Disease Genetic AssociationEFCAB5
Huge Navigator EFCAB5 [HugePedia]  EFCAB5 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneEFCAB5
Homology/Alignments : Family Browser (UCSC)EFCAB5
Phylogenetic Trees/Animal Genes : TreeFamEFCAB5
Chemical/Protein Interactions : CTD374786
Chemical/Pharm GKB GenePA145008457
Clinical trialEFCAB5
Cancer Resource (Charite)ENSG00000176927
Other databases
Probes
Litterature
PubMed5 Pubmed reference(s) in Entrez
CoreMineEFCAB5
iHOPEFCAB5
OncoSearchEFCAB5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:45:25 CEST 2014

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