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EFHB (EF-hand domain family member B)

Identity

Alias (NCBI)CFAP21
HGNC (Hugo) EFHB
HGNC Alias symbFLJ25200
CFAP21
HGNC Alias namecilia and flagella associated protein 21
HGNC Previous nameEF-hand domain family, member B
LocusID (NCBI) 151651
Atlas_Id 62748
Location 3p24.3  [Link to chromosome band 3p24]
Location_base_pair Starts at 19879474 and ends at 19934217 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)
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    EF-hand domain family member B
AliasesCFAP21
GeneCards (Weizmann)EFHB
Ensembl hg19 (Hinxton)ENSG00000163576 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163576 [Gene_View]  ENSG00000163576 [Sequence]  chr3:19879474-19934217 [Contig_View]  EFHB [Vega]
ICGC DataPortalENSG00000163576
TCGA cBioPortalEFHB
AceView (NCBI)EFHB
Genatlas (Paris)EFHB
SOURCE (Princeton)EFHB
Genetics Home Reference (NIH)EFHB
Genomic and cartography
GoldenPath hg38 (UCSC)EFHB  -     chr3:19879474-19934217 -  3p24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EFHB  -     3p24.3   [Description]    (hg19-Feb_2009)
GoldenPathEFHB - 3p24.3 [CytoView hg19]  EFHB - 3p24.3 [CytoView hg38]
ImmunoBaseENSG00000163576
Genome Data Viewer NCBIEFHB [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AK057929 AK097644 AK122616 BC028198
RefSeq transcript (Entrez)NM_001330688 NM_144715
Consensus coding sequences : CCDS (NCBI)EFHB
Gene ExpressionEFHB [ NCBI-GEO ]   EFHB [ EBI - ARRAY_EXPRESS ]   EFHB [ SEEK ]   EFHB [ MEM ]
Gene Expression Viewer (FireBrowse)EFHB [ Firebrowse - Broad ]
GenevisibleExpression of EFHB in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)151651
GTEX Portal (Tissue expression)EFHB
Human Protein AtlasENSG00000163576-EFHB [pathology]   [cell]   [tissue]
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
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    EFHC1/EFHC2/EFHB   
Domain families : Pfam (Sanger)EF-hand_7 (PF13499)   
Domain families : Pfam (NCBI)pfam13499   
Domain families : Smart (EMBL)EFh (SM00054)  
Conserved Domain (NCBI)EFHB
SuperfamilyQ8N7U6
AlphaFold pdb e-kbQ8N7U6   
Human Protein Atlas [tissue]ENSG00000163576-EFHB [tissue]
HPRD08054
Protein Interaction databases
DIP (DOE-UCLA)Q8N7U6
IntAct (EBI)Q8N7U6
BioGRIDEFHB
STRING (EMBL)EFHB
ZODIACEFHB
Ontologies - Pathways
QuickGOQ8N7U6
Ontology : AmiGOprotein binding  cytoplasm  calcium ion transport  negative regulation of protein binding  calcium ion sensor activity  regulation of calcineurin-NFAT signaling cascade  regulation of store-operated calcium entry  
Ontology : EGO-EBIprotein binding  cytoplasm  calcium ion transport  negative regulation of protein binding  calcium ion sensor activity  regulation of calcineurin-NFAT signaling cascade  regulation of store-operated calcium entry  
NDEx NetworkEFHB
Atlas of Cancer Signalling NetworkEFHB
Wikipedia pathwaysEFHB
Orthology - Evolution
OrthoDB151651
GeneTree (enSembl)ENSG00000163576
Phylogenetic Trees/Animal Genes : TreeFamEFHB
Homologs : HomoloGeneEFHB
Homology/Alignments : Family Browser (UCSC)EFHB
Gene fusions - Rearrangements
Fusion : QuiverEFHB
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEFHB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EFHB
dbVarEFHB
ClinVarEFHB
MonarchEFHB
1000_GenomesEFHB 
Exome Variant ServerEFHB
GNOMAD BrowserENSG00000163576
Varsome BrowserEFHB
ACMGEFHB variants
VarityQ8N7U6
Genomic Variants (DGV)EFHB [DGVbeta]
DECIPHEREFHB [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DEFHB
Mutations and Diseases : HGMDEFHB
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaEFHB
DgiDB (Drug Gene Interaction Database)EFHB
DoCM (Curated mutations)EFHB
CIViC (Clinical Interpretations of Variants in Cancer)EFHB
Cancer3DEFHB
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETEFHB
MedgenEFHB
Genetic Testing Registry EFHB
NextProtQ8N7U6 [Medical]
GENETestsEFHB
Target ValidationEFHB
Huge Navigator EFHB [HugePedia]
ClinGenEFHB
Clinical trials, drugs, therapy
MyCancerGenomeEFHB
Protein Interactions : CTDEFHB
Pharm GKB GenePA134987079
PharosQ8N7U6
Clinical trialEFHB
Miscellaneous
canSAR (ICR)EFHB
HarmonizomeEFHB
ARCHS4EFHB
DataMed IndexEFHB
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXEFHB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun Jan 16 18:51:28 CET 2022

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