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EFTUD2 (elongation factor Tu GTP binding domain containing 2)

Identity

Alias_names116 kD
Alias_symbol (synonym)U5-116KD
Snrp116
Snu114
SNRNP116
Other aliasMFDGA
MFDM
HGNC (Hugo) EFTUD2
LocusID (NCBI) 9343
Atlas_Id 54275
Location 17q21.31  [Link to chromosome band 17q21]
Location_base_pair Starts at 42927655 and ends at 42976993 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CYP19A1 (15q21.2) / EFTUD2 (17q21.31)EFTUD2 (17q21.31) / C1QL1 (17q21.31)EFTUD2 (17q21.31) / KIF18B (17q21.31)
EFTUD2 (17q21.31) / KRT24 (17q21.2)EFTUD2 (17q21.31) / MAP2 (2q34)EFTUD2 (17q21.31) / MAP3K14 (17q21.31)
EFTUD2 (17q21.31) / PDE4DIP (1q21.1)EFTUD2 (17q21.31) / PLCD3 (17q21.31)EFTUD2 (17q21.31) / S1PR2 (19p13.2)
ZNF566 (19q13.12) / EFTUD2 (17q21.31)EFTUD2 17q21.31 / C1QL1 17q21.31EFTUD2 17q21.31 / KRT24 17q21.2

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)EFTUD2   30858
Cards
Entrez_Gene (NCBI)EFTUD2  9343  elongation factor Tu GTP binding domain containing 2
AliasesMFDGA; MFDM; SNRNP116; Snrp116; 
Snu114; U5-116KD
GeneCards (Weizmann)EFTUD2
Ensembl hg19 (Hinxton)ENSG00000108883 [Gene_View]  chr17:42927655-42976993 [Contig_View]  EFTUD2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000108883 [Gene_View]  chr17:42927655-42976993 [Contig_View]  EFTUD2 [Vega]
ICGC DataPortalENSG00000108883
TCGA cBioPortalEFTUD2
AceView (NCBI)EFTUD2
Genatlas (Paris)EFTUD2
WikiGenes9343
SOURCE (Princeton)EFTUD2
Genetics Home Reference (NIH)EFTUD2
Genomic and cartography
GoldenPath hg19 (UCSC)EFTUD2  -     chr17:42927655-42976993 -  17q21.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EFTUD2  -     17q21.31   [Description]    (hg38-Dec_2013)
EnsemblEFTUD2 - 17q21.31 [CytoView hg19]  EFTUD2 - 17q21.31 [CytoView hg38]
Mapping of homologs : NCBIEFTUD2 [Mapview hg19]  EFTUD2 [Mapview hg38]
OMIM603892   610536   
Gene and transcription
Genbank (Entrez)AB095268 AJ505017 AK126193 AK126464 AK126652
RefSeq transcript (Entrez)NM_001142605 NM_001258353 NM_001258354 NM_004247
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_032674 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)EFTUD2
Cluster EST : UnigeneHs.151787 [ NCBI ]
CGAP (NCI)Hs.151787
Alternative Splicing GalleryENSG00000108883
Gene ExpressionEFTUD2 [ NCBI-GEO ]   EFTUD2 [ EBI - ARRAY_EXPRESS ]   EFTUD2 [ SEEK ]   EFTUD2 [ MEM ]
Gene Expression Viewer (FireBrowse)EFTUD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9343
GTEX Portal (Tissue expression)EFTUD2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15029   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15029  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15029
Splice isoforms : SwissVarQ15029
PhosPhoSitePlusQ15029
Domaine pattern : Prosite (Expaxy)G_TR_2 (PS51722)   
Domains : Interpro (EBI)EFG_III-V    EFG_V    EFTUD2_N    P-loop_NTPase    Ribosomal_S5_D2-typ_fold    Ribosomal_S5_D2-typ_fold_subgr    Small_GTP-bd_dom    TF_GTP-bd_dom    Transl_B-barrel    Transl_elong_EFG/EF2_IV    Transl_elong_EFTu/EF1A_2   
Domain families : Pfam (Sanger)EFG_C (PF00679)    EFG_II (PF14492)    EFG_IV (PF03764)    EFTUD2 (PF16004)    GTP_EFTU_D2 (PF03144)   
Domain families : Pfam (NCBI)pfam00679    pfam14492    pfam03764    pfam16004    pfam03144   
Domain families : Smart (EMBL)EFG_C (SM00838)  EFG_IV (SM00889)  
Conserved Domain (NCBI)EFTUD2
DMDM Disease mutations9343
Blocks (Seattle)EFTUD2
SuperfamilyQ15029
Human Protein AtlasENSG00000108883
Peptide AtlasQ15029
HPRD04869
IPIIPI00003519   IPI01012385   IPI00917777   
Protein Interaction databases
DIP (DOE-UCLA)Q15029
IntAct (EBI)Q15029
FunCoupENSG00000108883
BioGRIDEFTUD2
STRING (EMBL)EFTUD2
ZODIACEFTUD2
Ontologies - Pathways
QuickGOQ15029
Ontology : AmiGOmRNA splicing, via spliceosome  mRNA splicing, via spliceosome  GTPase activity  protein binding  GTP binding  nucleoplasm  nucleoplasm  spliceosomal complex  cytoplasm  mRNA processing  translation  RNA splicing  Cajal body  membrane  nuclear speck  cellular response to drug  response to cocaine  poly(A) RNA binding  catalytic step 2 spliceosome  
Ontology : EGO-EBImRNA splicing, via spliceosome  mRNA splicing, via spliceosome  GTPase activity  protein binding  GTP binding  nucleoplasm  nucleoplasm  spliceosomal complex  cytoplasm  mRNA processing  translation  RNA splicing  Cajal body  membrane  nuclear speck  cellular response to drug  response to cocaine  poly(A) RNA binding  catalytic step 2 spliceosome  
Pathways : KEGGSpliceosome   
NDEx NetworkEFTUD2
Atlas of Cancer Signalling NetworkEFTUD2
Wikipedia pathwaysEFTUD2
Orthology - Evolution
OrthoDB9343
GeneTree (enSembl)ENSG00000108883
Phylogenetic Trees/Animal Genes : TreeFamEFTUD2
HOVERGENQ15029
HOGENOMQ15029
Homologs : HomoloGeneEFTUD2
Homology/Alignments : Family Browser (UCSC)EFTUD2
Gene fusions - Rearrangements
Fusion : MitelmanEFTUD2/C1QL1 [17q21.31/17q21.31]  
Fusion : MitelmanEFTUD2/KIF18B [17q21.31/17q21.31]  [del(17)(q21q21)]  
Fusion : MitelmanEFTUD2/KRT24 [17q21.31/17q21.2]  [t(17;17)(q21;q21)]  
Fusion: TCGAEFTUD2 17q21.31 C1QL1 17q21.31 LUAD
Fusion: TCGAEFTUD2 17q21.31 KRT24 17q21.2 HNSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEFTUD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EFTUD2
dbVarEFTUD2
ClinVarEFTUD2
1000_GenomesEFTUD2 
Exome Variant ServerEFTUD2
ExAC (Exome Aggregation Consortium)EFTUD2 (select the gene name)
Genetic variants : HAPMAP9343
Genomic Variants (DGV)EFTUD2 [DGVbeta]
DECIPHER (Syndromes)17:42927655-42976993  ENSG00000108883
CONAN: Copy Number AnalysisEFTUD2 
Mutations
ICGC Data PortalEFTUD2 
TCGA Data PortalEFTUD2 
Broad Tumor PortalEFTUD2
OASIS PortalEFTUD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEFTUD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEFTUD2
intOGen PortalEFTUD2
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 EFTUD2
DgiDB (Drug Gene Interaction Database)EFTUD2
DoCM (Curated mutations)EFTUD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EFTUD2 (select a term)
intoGenEFTUD2
Cancer3DEFTUD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603892    610536   
Orphanet11150   
MedgenEFTUD2
Genetic Testing Registry EFTUD2
NextProtQ15029 [Medical]
TSGene9343
GENETestsEFTUD2
Huge Navigator EFTUD2 [HugePedia]
snp3D : Map Gene to Disease9343
BioCentury BCIQEFTUD2
ClinGenEFTUD2 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9343
Chemical/Pharm GKB GenePA142671915
Clinical trialEFTUD2
Miscellaneous
canSAR (ICR)EFTUD2 (select the gene name)
Probes
Litterature
PubMed87 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEFTUD2
EVEXEFTUD2
GoPubMedEFTUD2
iHOPEFTUD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Mar 30 14:59:47 CEST 2017

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