Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

EFHD2 (EF-hand domain family member D2)

Identity

Alias_namesEF hand domain containing 2
Alias_symbol (synonym)MGC4342
Other aliasSWS1
HGNC (Hugo) EFHD2
LocusID (NCBI) 79180
Atlas_Id 54274
Location 1p36.21  [Link to chromosome band 1p36]
Location_base_pair Starts at 15736391 and ends at 15756839 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
DDI2 (1p36.21) / EFHD2 (1p36.21)EFHD2 (1p36.21) / SP3 (2q31.1)KLK1 (19q13.33) / EFHD2 (1p36.21)
SPEN (1p36.21) / EFHD2 (1p36.21)SPEN 1p36.21 / EFHD2 1p36.21

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)EFHD2   28670
Cards
Entrez_Gene (NCBI)EFHD2  79180  EF-hand domain family member D2
AliasesSWS1
GeneCards (Weizmann)EFHD2
Ensembl hg19 (Hinxton)ENSG00000142634 [Gene_View]  chr1:15736391-15756839 [Contig_View]  EFHD2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000142634 [Gene_View]  chr1:15736391-15756839 [Contig_View]  EFHD2 [Vega]
ICGC DataPortalENSG00000142634
TCGA cBioPortalEFHD2
AceView (NCBI)EFHD2
Genatlas (Paris)EFHD2
WikiGenes79180
SOURCE (Princeton)EFHD2
Genetics Home Reference (NIH)EFHD2
Genomic and cartography
GoldenPath hg19 (UCSC)EFHD2  -     chr1:15736391-15756839 +  1p36.21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EFHD2  -     1p36.21   [Description]    (hg38-Dec_2013)
EnsemblEFHD2 - 1p36.21 [CytoView hg19]  EFHD2 - 1p36.21 [CytoView hg38]
Mapping of homologs : NCBIEFHD2 [Mapview hg19]  EFHD2 [Mapview hg38]
OMIM616450   
Gene and transcription
Genbank (Entrez)AI624416 BC003033 BC007233 BC013648 BC014923
RefSeq transcript (Entrez)NM_024329
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_032977 NW_004929289
Consensus coding sequences : CCDS (NCBI)EFHD2
Cluster EST : UnigeneHs.465374 [ NCBI ]
CGAP (NCI)Hs.465374
Alternative Splicing GalleryENSG00000142634
Gene ExpressionEFHD2 [ NCBI-GEO ]   EFHD2 [ EBI - ARRAY_EXPRESS ]   EFHD2 [ SEEK ]   EFHD2 [ MEM ]
Gene Expression Viewer (FireBrowse)EFHD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79180
GTEX Portal (Tissue expression)EFHD2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96C19   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96C19  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96C19
Splice isoforms : SwissVarQ96C19
PhosPhoSitePlusQ96C19
Domaine pattern : Prosite (Expaxy)EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)EF-hand-dom_pair    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)EFHD2
DMDM Disease mutations79180
Blocks (Seattle)EFHD2
SuperfamilyQ96C19
Human Protein AtlasENSG00000142634
Peptide AtlasQ96C19
HPRD13266
IPIIPI00060181   IPI00552365   IPI00978585   
Protein Interaction databases
DIP (DOE-UCLA)Q96C19
IntAct (EBI)Q96C19
FunCoupENSG00000142634
BioGRIDEFHD2
STRING (EMBL)EFHD2
ZODIACEFHD2
Ontologies - Pathways
QuickGOQ96C19
Ontology : AmiGOcalcium ion binding  membrane raft  
Ontology : EGO-EBIcalcium ion binding  membrane raft  
NDEx NetworkEFHD2
Atlas of Cancer Signalling NetworkEFHD2
Wikipedia pathwaysEFHD2
Orthology - Evolution
OrthoDB79180
GeneTree (enSembl)ENSG00000142634
Phylogenetic Trees/Animal Genes : TreeFamEFHD2
HOVERGENQ96C19
HOGENOMQ96C19
Homologs : HomoloGeneEFHD2
Homology/Alignments : Family Browser (UCSC)EFHD2
Gene fusions - Rearrangements
Fusion : MitelmanDDI2/EFHD2 [1p36.21/1p36.21]  [dup(1)(p36p36)]  
Fusion : MitelmanSPEN/EFHD2 [1p36.21/1p36.21]  [t(1;1)(p36;p36)]  
Fusion: TCGASPEN 1p36.21 EFHD2 1p36.21 BLCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEFHD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EFHD2
dbVarEFHD2
ClinVarEFHD2
1000_GenomesEFHD2 
Exome Variant ServerEFHD2
ExAC (Exome Aggregation Consortium)EFHD2 (select the gene name)
Genetic variants : HAPMAP79180
Genomic Variants (DGV)EFHD2 [DGVbeta]
DECIPHER (Syndromes)1:15736391-15756839  ENSG00000142634
CONAN: Copy Number AnalysisEFHD2 
Mutations
ICGC Data PortalEFHD2 
TCGA Data PortalEFHD2 
Broad Tumor PortalEFHD2
OASIS PortalEFHD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEFHD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEFHD2
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 EFHD2
DgiDB (Drug Gene Interaction Database)EFHD2
DoCM (Curated mutations)EFHD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EFHD2 (select a term)
intoGenEFHD2
Cancer3DEFHD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616450   
Orphanet
MedgenEFHD2
Genetic Testing Registry EFHD2
NextProtQ96C19 [Medical]
TSGene79180
GENETestsEFHD2
Huge Navigator EFHD2 [HugePedia]
snp3D : Map Gene to Disease79180
BioCentury BCIQEFHD2
ClinGenEFHD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79180
Chemical/Pharm GKB GenePA134942316
Clinical trialEFHD2
Miscellaneous
canSAR (ICR)EFHD2 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEFHD2
EVEXEFHD2
GoPubMedEFHD2
iHOPEFHD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Mar 30 14:59:45 CEST 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.