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ETFDH (electron transfer flavoprotein dehydrogenase)

Identity

Alias (NCBI)ETFQO
MADD
HGNC (Hugo) ETFDH
HGNC Alias symbETFQO
HGNC Previous nameelectron-transferring-flavoprotein dehydrogenase
LocusID (NCBI) 2110
Atlas_Id 62928
Location 4q32.1  [Link to chromosome band 4q32]
Location_base_pair Starts at 158672296 and ends at 158709623 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)
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    electron transfer flavoprotein dehydrogenase
AliasesETFQO; MADD
GeneCards (Weizmann)ETFDH
Ensembl hg19 (Hinxton)ENSG00000171503 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000171503 [Gene_View]  ENSG00000171503 [Sequence]  chr4:158672296-158709623 [Contig_View]  ETFDH [Vega]
ICGC DataPortalENSG00000171503
TCGA cBioPortalETFDH
AceView (NCBI)ETFDH
Genatlas (Paris)ETFDH
SOURCE (Princeton)ETFDH
Genetics Home Reference (NIH)ETFDH
Genomic and cartography
GoldenPath hg38 (UCSC)ETFDH  -     chr4:158672296-158709623 +  4q32.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ETFDH  -     4q32.1   [Description]    (hg19-Feb_2009)
GoldenPathETFDH - 4q32.1 [CytoView hg19]  ETFDH - 4q32.1 [CytoView hg38]
ImmunoBaseENSG00000171503
Genome Data Viewer NCBIETFDH [Mapview hg19]  
OMIM231675   231680   
Gene and transcription
Genbank (Entrez)AK293737 AK304838 AK311435 AK314803 BC011890
RefSeq transcript (Entrez)NM_001281737 NM_001281738 NM_004453
Consensus coding sequences : CCDS (NCBI)ETFDH
Gene ExpressionETFDH [ NCBI-GEO ]   ETFDH [ EBI - ARRAY_EXPRESS ]   ETFDH [ SEEK ]   ETFDH [ MEM ]
Gene Expression Viewer (FireBrowse)ETFDH [ Firebrowse - Broad ]
GenevisibleExpression of ETFDH in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2110
GTEX Portal (Tissue expression)ETFDH
Human Protein AtlasENSG00000171503-ETFDH [pathology]   [cell]   [tissue]
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
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 ]   [ MEROPS ]
PhosPhoSitePlusQ16134
Domaine pattern : Prosite (Expaxy)4FE4S_FER_2 (PS51379)   
Domains : Interpro (EBI)4Fe4S_Fe-S-bd    ETF-QO    FAD/NAD-bd_sf   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)ETFDH
SuperfamilyQ16134
AlphaFold pdb e-kbQ16134   
Human Protein Atlas [tissue]ENSG00000171503-ETFDH [tissue]
HPRD01978
Protein Interaction databases
DIP (DOE-UCLA)Q16134
IntAct (EBI)Q16134
BioGRIDETFDH
STRING (EMBL)ETFDH
ZODIACETFDH
Ontologies - Pathways
QuickGOQ16134
Ontology : AmiGOelectron-transferring-flavoprotein dehydrogenase activity  electron-transferring-flavoprotein dehydrogenase activity  protein binding  mitochondrial matrix  response to oxidative stress  electron transfer activity  oxidoreductase activity  electron transport chain  electron transport chain  respiratory electron transport chain  integral component of mitochondrial inner membrane  integral component of mitochondrial inner membrane  mitochondrial membrane  fatty acid beta-oxidation using acyl-CoA dehydrogenase  oxidoreductase activity, acting on metal ions, flavin as acceptor  metal ion binding  quinone binding  ubiquinone binding  ubiquinone binding  flavin adenine dinucleotide binding  4 iron, 4 sulfur cluster binding  4 iron, 4 sulfur cluster binding  
Ontology : EGO-EBIelectron-transferring-flavoprotein dehydrogenase activity  electron-transferring-flavoprotein dehydrogenase activity  protein binding  mitochondrial matrix  response to oxidative stress  electron transfer activity  oxidoreductase activity  electron transport chain  electron transport chain  respiratory electron transport chain  integral component of mitochondrial inner membrane  integral component of mitochondrial inner membrane  mitochondrial membrane  fatty acid beta-oxidation using acyl-CoA dehydrogenase  oxidoreductase activity, acting on metal ions, flavin as acceptor  metal ion binding  quinone binding  ubiquinone binding  ubiquinone binding  flavin adenine dinucleotide binding  4 iron, 4 sulfur cluster 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
Homologs : HomoloGeneETFDH
Homology/Alignments : Family Browser (UCSC)ETFDH
Gene fusions - Rearrangements
Fusion : QuiverETFDH
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerETFDH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ETFDH
dbVarETFDH
ClinVarETFDH
MonarchETFDH
1000_GenomesETFDH 
Exome Variant ServerETFDH
GNOMAD BrowserENSG00000171503
Varsome BrowserETFDH
ACMGETFDH variants
VarityQ16134
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]  
Somatic Mutations in Cancer : COSMIC3DETFDH
Mutations and Diseases : HGMDETFDH
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaETFDH
DgiDB (Drug Gene Interaction Database)ETFDH
DoCM (Curated mutations)ETFDH
CIViC (Clinical Interpretations of Variants in Cancer)ETFDH
Cancer3DETFDH
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM231675    231680   
Orphanet22660    22659   
DisGeNETETFDH
MedgenETFDH
Genetic Testing Registry ETFDH
NextProtQ16134 [Medical]
GENETestsETFDH
Target ValidationETFDH
Huge Navigator ETFDH [HugePedia]
ClinGenETFDH
Clinical trials, drugs, therapy
MyCancerGenomeETFDH
Protein Interactions : CTDETFDH
Pharm GKB GenePA27899
PharosQ16134
Clinical trialETFDH
Miscellaneous
canSAR (ICR)ETFDH
HarmonizomeETFDH
DataMed IndexETFDH
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXETFDH
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 15:49:16 CEST 2021

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