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EFCAB5 (EF-hand calcium binding domain 5)

Identity

Alias (NCBI)-
HGNC (Hugo) EFCAB5
HGNC Alias symbFLJ46247
LocusID (NCBI) 374786
Atlas_Id 43065
Location 17q11.2  [Link to chromosome band 17q11]
Location_base_pair Starts at 29941634 and ends at 30108452 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)
ATAD5 (17q11.2) / EFCAB5 (17q11.2)CBX4 (17q25.3) / EFCAB5 (17q11.2)EFCAB5 (17q11.2) / SUZ12 (17q11.2)
KSR1 (17q11.1) / EFCAB5 (17q11.2)MSI2 (17q22) / EFCAB5 (17q11.2)NSRP1 (17q11.2) / EFCAB5 (17q11.2)
SSH2 (17q11.2) / EFCAB5 (17q11.2)ATAD5 17q11.2 / EFCAB5 17q11.2CBX4 17q25.3 / EFCAB5 17q11.2
KSR1 17q11.1 / EFCAB5 17q11.2MSI2 17q22 / EFCAB5 17q11.2NSRP1 17q11.2 / EFCAB5 17q11.2

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)EFCAB5   24801
Cards
Entrez_Gene (NCBI)EFCAB5    EF-hand calcium binding domain 5
Aliases
GeneCards (Weizmann)EFCAB5
Ensembl hg19 (Hinxton)ENSG00000176927 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000176927 [Gene_View]  ENSG00000176927 [Sequence]  chr17:29941634-30108452 [Contig_View]  EFCAB5 [Vega]
ICGC DataPortalENSG00000176927
TCGA cBioPortalEFCAB5
AceView (NCBI)EFCAB5
Genatlas (Paris)EFCAB5
SOURCE (Princeton)EFCAB5
Genetics Home Reference (NIH)EFCAB5
Genomic and cartography
GoldenPath hg38 (UCSC)EFCAB5  -     chr17:29941634-30108452 +  17q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EFCAB5  -     17q11.2   [Description]    (hg19-Feb_2009)
GoldenPathEFCAB5 - 17q11.2 [CytoView hg19]  EFCAB5 - 17q11.2 [CytoView hg38]
ImmunoBaseENSG00000176927
Genome Data Viewer NCBIEFCAB5 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AK128126 AK299608 AK302745 AK303060 AL833911
RefSeq transcript (Entrez)NM_001033562 NM_001145053 NM_198529
Consensus coding sequences : CCDS (NCBI)EFCAB5
Gene ExpressionEFCAB5 [ NCBI-GEO ]   EFCAB5 [ EBI - ARRAY_EXPRESS ]   EFCAB5 [ SEEK ]   EFCAB5 [ MEM ]
Gene Expression Viewer (FireBrowse)EFCAB5 [ Firebrowse - Broad ]
GenevisibleExpression of EFCAB5 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)374786
GTEX Portal (Tissue expression)EFCAB5
Human Protein AtlasENSG00000176927-EFCAB5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtA4FU69   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA4FU69  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA4FU69
PhosPhoSitePlusA4FU69
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)EF_Hand_1_Ca_BS    EF_hand_dom    GAF-like_dom_sf   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)EFCAB5
SuperfamilyA4FU69
AlphaFold pdb e-kbA4FU69   
Human Protein Atlas [tissue]ENSG00000176927-EFCAB5 [tissue]
HPRD13528
Protein Interaction databases
DIP (DOE-UCLA)A4FU69
IntAct (EBI)A4FU69
BioGRIDEFCAB5
STRING (EMBL)EFCAB5
ZODIACEFCAB5
Ontologies - Pathways
QuickGOA4FU69
Ontology : AmiGOcalcium ion binding  
Ontology : EGO-EBIcalcium ion binding  
NDEx NetworkEFCAB5
Atlas of Cancer Signalling NetworkEFCAB5
Wikipedia pathwaysEFCAB5
Orthology - Evolution
OrthoDB374786
GeneTree (enSembl)ENSG00000176927
Phylogenetic Trees/Animal Genes : TreeFamEFCAB5
Homologs : HomoloGeneEFCAB5
Homology/Alignments : Family Browser (UCSC)EFCAB5
Gene fusions - Rearrangements
Fusion : MitelmanATAD5/EFCAB5 [17q11.2/17q11.2]  
Fusion : MitelmanCBX4/EFCAB5 [17q25.3/17q11.2]  
Fusion : MitelmanKSR1/EFCAB5 [17q11.1/17q11.2]  
Fusion : MitelmanMSI2/EFCAB5 [17q22/17q11.2]  
Fusion : MitelmanNSRP1/EFCAB5 [17q11.2/17q11.2]  
Fusion : QuiverEFCAB5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEFCAB5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EFCAB5
dbVarEFCAB5
ClinVarEFCAB5
MonarchEFCAB5
1000_GenomesEFCAB5 
Exome Variant ServerEFCAB5
GNOMAD BrowserENSG00000176927
Varsome BrowserEFCAB5
ACMGEFCAB5 variants
VarityA4FU69
Genomic Variants (DGV)EFCAB5 [DGVbeta]
DECIPHEREFCAB5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEFCAB5 
Mutations
ICGC Data PortalEFCAB5 
TCGA Data PortalEFCAB5 
Broad Tumor PortalEFCAB5
OASIS PortalEFCAB5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEFCAB5  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DEFCAB5
Mutations and Diseases : HGMDEFCAB5
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaEFCAB5
DgiDB (Drug Gene Interaction Database)EFCAB5
DoCM (Curated mutations)EFCAB5
CIViC (Clinical Interpretations of Variants in Cancer)EFCAB5
Cancer3DEFCAB5
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETEFCAB5
MedgenEFCAB5
Genetic Testing Registry EFCAB5
NextProtA4FU69 [Medical]
GENETestsEFCAB5
Target ValidationEFCAB5
Huge Navigator EFCAB5 [HugePedia]
ClinGenEFCAB5
Clinical trials, drugs, therapy
MyCancerGenomeEFCAB5
Protein Interactions : CTDEFCAB5
Pharm GKB GenePA145008457
PharosA4FU69
Clinical trialEFCAB5
Miscellaneous
canSAR (ICR)EFCAB5
HarmonizomeEFCAB5
DataMed IndexEFCAB5
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXEFCAB5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:07:44 CEST 2021

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