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EFHC2 (EF-hand domain containing 2)

Identity

Other aliasMRX74
dJ1158H2.1
HGNC (Hugo) EFHC2
LocusID (NCBI) 80258
Atlas_Id 57039
Location Xp11.3  [Link to chromosome band Xp11]
Location_base_pair Starts at 44147882 and ends at 44343677 bp from pter ( according to hg38-Dec_2013)

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)EFHC2   26233
Cards
Entrez_Gene (NCBI)EFHC2  80258  EF-hand domain containing 2
AliasesMRX74; dJ1158H2.1
GeneCards (Weizmann)EFHC2
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chrX:44147882-44343677 [Contig_View]  EFHC2 [Vega]
TCGA cBioPortalEFHC2
AceView (NCBI)EFHC2
Genatlas (Paris)EFHC2
WikiGenes80258
SOURCE (Princeton)EFHC2
Genetics Home Reference (NIH)EFHC2
Genomic and cartography
GoldenPath hg38 (UCSC)EFHC2  -     chrX:44147882-44343677 -  Xp11.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EFHC2  -     Xp11.3   [Description]    (hg19-Feb_2009)
EnsemblEFHC2 - Xp11.3 [CytoView hg19]  EFHC2 - Xp11.3 [CytoView hg38]
Mapping of homologs : NCBIEFHC2 [Mapview hg19]  EFHC2 [Mapview hg38]
OMIM300817   
Gene and transcription
Genbank (Entrez)AK026254 AK026496 AK291187 AK292967 AK297714
RefSeq transcript (Entrez)NM_025184
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EFHC2
Cluster EST : UnigeneHs.521953 [ NCBI ]
CGAP (NCI)Hs.521953
Gene ExpressionEFHC2 [ NCBI-GEO ]   EFHC2 [ EBI - ARRAY_EXPRESS ]   EFHC2 [ SEEK ]   EFHC2 [ MEM ]
Gene Expression Viewer (FireBrowse)EFHC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80258
GTEX Portal (Tissue expression)EFHC2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5JST6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5JST6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5JST6
Splice isoforms : SwissVarQ5JST6
PhosPhoSitePlusQ5JST6
Domaine pattern : Prosite (Expaxy)DM10 (PS51336)    EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)DUF1126    EF-hand-dom_pair    EF_hand_dom    Uncharacterised_DM10   
Domain families : Pfam (Sanger)DUF1126 (PF06565)   
Domain families : Pfam (NCBI)pfam06565   
Domain families : Smart (EMBL)DM10 (SM00676)  
Conserved Domain (NCBI)EFHC2
DMDM Disease mutations80258
Blocks (Seattle)EFHC2
PDB (SRS)2Z13    2Z14   
PDB (PDBSum)2Z13    2Z14   
PDB (IMB)2Z13    2Z14   
PDB (RSDB)2Z13    2Z14   
Structural Biology KnowledgeBase2Z13    2Z14   
SCOP (Structural Classification of Proteins)2Z13    2Z14   
CATH (Classification of proteins structures)2Z13    2Z14   
SuperfamilyQ5JST6
Peptide AtlasQ5JST6
IPIIPI00171599   IPI00646148   IPI00910309   IPI00941843   
Protein Interaction databases
DIP (DOE-UCLA)Q5JST6
IntAct (EBI)Q5JST6
BioGRIDEFHC2
STRING (EMBL)EFHC2
ZODIACEFHC2
Ontologies - Pathways
QuickGOQ5JST6
Ontology : AmiGOcalcium ion binding  protein binding  cellular response to leukemia inhibitory factor  
Ontology : EGO-EBIcalcium ion binding  protein binding  cellular response to leukemia inhibitory factor  
NDEx NetworkEFHC2
Atlas of Cancer Signalling NetworkEFHC2
Wikipedia pathwaysEFHC2
Orthology - Evolution
OrthoDB80258
Phylogenetic Trees/Animal Genes : TreeFamEFHC2
HOVERGENQ5JST6
HOGENOMQ5JST6
Homologs : HomoloGeneEFHC2
Homology/Alignments : Family Browser (UCSC)EFHC2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEFHC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EFHC2
dbVarEFHC2
ClinVarEFHC2
1000_GenomesEFHC2 
Exome Variant ServerEFHC2
ExAC (Exome Aggregation Consortium)EFHC2 (select the gene name)
Genetic variants : HAPMAP80258
Genomic Variants (DGV)EFHC2 [DGVbeta]
DECIPHEREFHC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEFHC2 
Mutations
ICGC Data PortalEFHC2 
TCGA Data PortalEFHC2 
Broad Tumor PortalEFHC2
OASIS PortalEFHC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEFHC2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEFHC2
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 EFHC2
DgiDB (Drug Gene Interaction Database)EFHC2
DoCM (Curated mutations)EFHC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EFHC2 (select a term)
intoGenEFHC2
Cancer3DEFHC2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300817   
Orphanet
MedgenEFHC2
Genetic Testing Registry EFHC2
NextProtQ5JST6 [Medical]
TSGene80258
GENETestsEFHC2
Target ValidationEFHC2
Huge Navigator EFHC2 [HugePedia]
snp3D : Map Gene to Disease80258
BioCentury BCIQEFHC2
ClinGenEFHC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80258
Chemical/Pharm GKB GenePA134938637
Clinical trialEFHC2
Miscellaneous
canSAR (ICR)EFHC2 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEFHC2
EVEXEFHC2
GoPubMedEFHC2
iHOPEFHC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:52:19 CEST 2017

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