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EFHB (EF-hand domain family, member B)

Identity

Alias_namesEF-hand domain family, member B
Alias_symbol (synonym)FLJ25200
CFAP21
Other alias
HGNC (Hugo) EFHB
LocusID (NCBI) 151651
Atlas_Id 62748
Location 3p24.3  [Link to chromosome band 3p24]
Location_base_pair Starts at 19920966 and ends at 19975706 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
EFHB (3p24.3) / EXOC4 (7q33)EFHB (3p24.3) / PLCL2 (3p24.3)EFHB (3p24.3) / TYR (11q14.3)
ZNF43 (19p12) / EFHB (3p24.3)

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)EFHB   26330
Cards
Entrez_Gene (NCBI)EFHB  151651  EF-hand domain family, member B
AliasesCFAP21
GeneCards (Weizmann)EFHB
Ensembl hg19 (Hinxton)ENSG00000163576 [Gene_View]  chr3:19920966-19975706 [Contig_View]  EFHB [Vega]
Ensembl hg38 (Hinxton)ENSG00000163576 [Gene_View]  chr3:19920966-19975706 [Contig_View]  EFHB [Vega]
ICGC DataPortalENSG00000163576
TCGA cBioPortalEFHB
AceView (NCBI)EFHB
Genatlas (Paris)EFHB
WikiGenes151651
SOURCE (Princeton)EFHB
Genetics Home Reference (NIH)EFHB
Genomic and cartography
GoldenPath hg19 (UCSC)EFHB  -     chr3:19920966-19975706 -  3p24.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EFHB  -     3p24.3   [Description]    (hg38-Dec_2013)
EnsemblEFHB - 3p24.3 [CytoView hg19]  EFHB - 3p24.3 [CytoView hg38]
Mapping of homologs : NCBIEFHB [Mapview hg19]  EFHB [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK057929 AK097644 AK122616 BC028198
RefSeq transcript (Entrez)NM_144715
RefSeq genomic (Entrez)NC_000003 NC_018914 NT_022517 NW_004929309
Consensus coding sequences : CCDS (NCBI)EFHB
Cluster EST : UnigeneHs.733920 [ NCBI ]
CGAP (NCI)Hs.733920
Alternative Splicing GalleryENSG00000163576
Gene ExpressionEFHB [ NCBI-GEO ]   EFHB [ EBI - ARRAY_EXPRESS ]   EFHB [ SEEK ]   EFHB [ MEM ]
Gene Expression Viewer (FireBrowse)EFHB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)151651
GTEX Portal (Tissue expression)EFHB
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N7U6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N7U6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N7U6
Splice isoforms : SwissVarQ8N7U6
PhosPhoSitePlusQ8N7U6
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom   
Domain families : Pfam (Sanger)EF-hand_7 (PF13499)   
Domain families : Pfam (NCBI)pfam13499   
Domain families : Smart (EMBL)EFh (SM00054)  
Conserved Domain (NCBI)EFHB
DMDM Disease mutations151651
Blocks (Seattle)EFHB
SuperfamilyQ8N7U6
Human Protein AtlasENSG00000163576
Peptide AtlasQ8N7U6
HPRD08054
IPIIPI00783995   IPI00786910   IPI00743497   IPI00926981   
Protein Interaction databases
DIP (DOE-UCLA)Q8N7U6
IntAct (EBI)Q8N7U6
FunCoupENSG00000163576
BioGRIDEFHB
STRING (EMBL)EFHB
ZODIACEFHB
Ontologies - Pathways
QuickGOQ8N7U6
Ontology : AmiGOcalcium ion binding  
Ontology : EGO-EBIcalcium ion binding  
NDEx NetworkEFHB
Atlas of Cancer Signalling NetworkEFHB
Wikipedia pathwaysEFHB
Orthology - Evolution
OrthoDB151651
GeneTree (enSembl)ENSG00000163576
Phylogenetic Trees/Animal Genes : TreeFamEFHB
HOVERGENQ8N7U6
HOGENOMQ8N7U6
Homologs : HomoloGeneEFHB
Homology/Alignments : Family Browser (UCSC)EFHB
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEFHB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EFHB
dbVarEFHB
ClinVarEFHB
1000_GenomesEFHB 
Exome Variant ServerEFHB
ExAC (Exome Aggregation Consortium)EFHB (select the gene name)
Genetic variants : HAPMAP151651
Genomic Variants (DGV)EFHB [DGVbeta]
DECIPHER (Syndromes)3:19920966-19975706  ENSG00000163576
CONAN: Copy Number AnalysisEFHB 
Mutations
ICGC Data PortalEFHB 
TCGA Data PortalEFHB 
Broad Tumor PortalEFHB
OASIS PortalEFHB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEFHB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEFHB
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 EFHB
DgiDB (Drug Gene Interaction Database)EFHB
DoCM (Curated mutations)EFHB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EFHB (select a term)
intoGenEFHB
Cancer3DEFHB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenEFHB
Genetic Testing Registry EFHB
NextProtQ8N7U6 [Medical]
TSGene151651
GENETestsEFHB
Huge Navigator EFHB [HugePedia]
snp3D : Map Gene to Disease151651
BioCentury BCIQEFHB
ClinGenEFHB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD151651
Chemical/Pharm GKB GenePA134987079
Clinical trialEFHB
Miscellaneous
canSAR (ICR)EFHB (select the gene name)
Probes
Litterature
PubMed4 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEFHB
EVEXEFHB
GoPubMedEFHB
iHOPEFHB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Mar 14 12:02:35 CET 2017

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