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ETFDH (electron transfer flavoprotein dehydrogenase)

Identity

Alias_nameselectron-transferring-flavoprotein dehydrogenase
Alias_symbol (synonym)ETFQO
Other aliasMADD
HGNC (Hugo) ETFDH
LocusID (NCBI) 2110
Atlas_Id 62928
Location 4q32.1  [Link to chromosome band 4q32]
Location_base_pair Starts at 158672101 and ends at 158708713 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BOLA2 (16p11.2) / ETFDH (4q32.1)

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)ETFDH   3483
Cards
Entrez_Gene (NCBI)ETFDH  2110  electron transfer flavoprotein dehydrogenase
AliasesETFQO; MADD
GeneCards (Weizmann)ETFDH
Ensembl hg19 (Hinxton)ENSG00000171503 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000171503 [Gene_View]  chr4:158672101-158708713 [Contig_View]  ETFDH [Vega]
ICGC DataPortalENSG00000171503
TCGA cBioPortalETFDH
AceView (NCBI)ETFDH
Genatlas (Paris)ETFDH
WikiGenes2110
SOURCE (Princeton)ETFDH
Genetics Home Reference (NIH)ETFDH
Genomic and cartography
GoldenPath hg38 (UCSC)ETFDH  -     chr4:158672101-158708713 +  4q32.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ETFDH  -     4q32.1   [Description]    (hg19-Feb_2009)
EnsemblETFDH - 4q32.1 [CytoView hg19]  ETFDH - 4q32.1 [CytoView hg38]
Mapping of homologs : NCBIETFDH [Mapview hg19]  ETFDH [Mapview hg38]
OMIM231675   231680   
Gene and transcription
Genbank (Entrez)AK293737 AK304838 AK311435 AK314803 BC011890
RefSeq transcript (Entrez)NM_001281737 NM_001281738 NM_004453
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ETFDH
Cluster EST : UnigeneHs.155729 [ NCBI ]
CGAP (NCI)Hs.155729
Alternative Splicing GalleryENSG00000171503
Gene ExpressionETFDH [ NCBI-GEO ]   ETFDH [ EBI - ARRAY_EXPRESS ]   ETFDH [ SEEK ]   ETFDH [ MEM ]
Gene Expression Viewer (FireBrowse)ETFDH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2110
GTEX Portal (Tissue expression)ETFDH
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16134   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16134  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16134
Splice isoforms : SwissVarQ16134
Catalytic activity : Enzyme1.5.5.1 [ Enzyme-Expasy ]   1.5.5.11.5.5.1 [ IntEnz-EBI ]   1.5.5.1 [ BRENDA ]   1.5.5.1 [ KEGG ]   
PhosPhoSitePlusQ16134
Domaine pattern : Prosite (Expaxy)4FE4S_FER_2 (PS51379)   
Domains : Interpro (EBI)4Fe4S_Fe-S-bd    FAD/NAD-binding_dom    Pyridine_nuc-diS_OxRdtase_2   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)ETFDH
DMDM Disease mutations2110
Blocks (Seattle)ETFDH
SuperfamilyQ16134
Human Protein AtlasENSG00000171503
Peptide AtlasQ16134
HPRD01978
IPIIPI00032875   IPI00867550   IPI00455179   IPI00965641   IPI00966717   IPI00967546   
Protein Interaction databases
DIP (DOE-UCLA)Q16134
IntAct (EBI)Q16134
FunCoupENSG00000171503
BioGRIDETFDH
STRING (EMBL)ETFDH
ZODIACETFDH
Ontologies - Pathways
QuickGOQ16134
Ontology : AmiGOelectron-transferring-flavoprotein dehydrogenase activity  electron-transferring-flavoprotein dehydrogenase activity  mitochondrial matrix  response to oxidative stress  electron carrier activity  oxidoreductase activity  mitochondrial electron transfer flavoprotein complex  electron transport chain  respiratory electron transport chain  respiratory electron transport chain  integral component of mitochondrial inner membrane  mitochondrial membrane  fatty acid beta-oxidation using acyl-CoA dehydrogenase  oxidoreductase activity, oxidizing metal ions with flavin as acceptor  oxidoreductase activity, oxidizing metal ions with flavin as acceptor  metal ion binding  quinone binding  ubiquinone binding  flavin adenine dinucleotide binding  4 iron, 4 sulfur cluster binding  
Ontology : EGO-EBIelectron-transferring-flavoprotein dehydrogenase activity  electron-transferring-flavoprotein dehydrogenase activity  mitochondrial matrix  response to oxidative stress  electron carrier activity  oxidoreductase activity  mitochondrial electron transfer flavoprotein complex  electron transport chain  respiratory electron transport chain  respiratory electron transport chain  integral component of mitochondrial inner membrane  mitochondrial membrane  fatty acid beta-oxidation using acyl-CoA dehydrogenase  oxidoreductase activity, oxidizing metal ions with flavin as acceptor  oxidoreductase activity, oxidizing metal ions with flavin as acceptor  metal ion binding  quinone binding  ubiquinone binding  flavin adenine dinucleotide binding  4 iron, 4 sulfur cluster binding  
NDEx NetworkETFDH
Atlas of Cancer Signalling NetworkETFDH
Wikipedia pathwaysETFDH
Orthology - Evolution
OrthoDB2110
GeneTree (enSembl)ENSG00000171503
Phylogenetic Trees/Animal Genes : TreeFamETFDH
HOVERGENQ16134
HOGENOMQ16134
Homologs : HomoloGeneETFDH
Homology/Alignments : Family Browser (UCSC)ETFDH
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerETFDH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ETFDH
dbVarETFDH
ClinVarETFDH
1000_GenomesETFDH 
Exome Variant ServerETFDH
ExAC (Exome Aggregation Consortium)ETFDH (select the gene name)
Genetic variants : HAPMAP2110
Genomic Variants (DGV)ETFDH [DGVbeta]
DECIPHERETFDH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisETFDH 
Mutations
ICGC Data PortalETFDH 
TCGA Data PortalETFDH 
Broad Tumor PortalETFDH
OASIS PortalETFDH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICETFDH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDETFDH
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
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ETFDH
DgiDB (Drug Gene Interaction Database)ETFDH
DoCM (Curated mutations)ETFDH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ETFDH (select a term)
intoGenETFDH
Cancer3DETFDH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM231675    231680   
Orphanet22660    22659   
MedgenETFDH
Genetic Testing Registry ETFDH
NextProtQ16134 [Medical]
TSGene2110
GENETestsETFDH
Huge Navigator ETFDH [HugePedia]
snp3D : Map Gene to Disease2110
BioCentury BCIQETFDH
ClinGenETFDH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2110
Chemical/Pharm GKB GenePA27899
Clinical trialETFDH
Miscellaneous
canSAR (ICR)ETFDH (select the gene name)
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineETFDH
EVEXETFDH
GoPubMedETFDH
iHOPETFDH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 11:10:13 CEST 2017

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