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Aliases for ETFDH Gene

Aliases for ETFDH Gene

  • Electron Transfer Flavoprotein Dehydrogenase 2 3 5
  • Electron-Transferring-Flavoprotein Dehydrogenase 2 3 4
  • ETF-Ubiquinone Oxidoreductase 3 4
  • ETF Dehydrogenase 3 4
  • EC 4 58
  • ETF-QO 3 4
  • Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase, Mitochondrial 3
  • ETFQO 3
  • MADD 3

External Ids for ETFDH Gene

Previous GeneCards Identifiers for ETFDH Gene

  • GC04P160443
  • GC04P160022
  • GC04P160171
  • GC04P160145
  • GC04P159951
  • GC04P159812
  • GC04P159593
  • GC04P155343

Summaries for ETFDH Gene

Entrez Gene Summary for ETFDH Gene

  • This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]

GeneCards Summary for ETFDH Gene

ETFDH (Electron Transfer Flavoprotein Dehydrogenase) is a Protein Coding gene. Diseases associated with ETFDH include Glutaric Acidemia Iic and Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include oxidoreductase activity and flavin adenine dinucleotide binding.

UniProtKB/Swiss-Prot for ETFDH Gene

  • Accepts electrons from ETF and reduces ubiquinone.

Gene Wiki entry for ETFDH Gene

Additional gene information for ETFDH Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ETFDH Gene

Genomics for ETFDH Gene

Regulatory Elements for ETFDH Gene

Enhancers for ETFDH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04H158721 1.4 FANTOM5 ENCODE 31.3 +50.9 50889 2.7 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 ETFDH PPID FNIP2 ENSG00000271817
GH04H158540 1.3 FANTOM5 Ensembl ENCODE 28.9 -130.5 -130539 3.9 TAL1 JUN ZNF175 BATF FOSL1 ZNF316 NFE2 RUNX3 MAFK RFX1 ETFDH FNIP2 PPID ENSG00000249901 GC04P158622
GH04H158663 1.1 Ensembl ENCODE 31.1 -8.2 -8151 1.5 HDAC1 HDGF PKNOX1 ATF1 ARNT NFRKB NFXL1 ZBTB40 TCF12 ATF7 ETFDH GC04P158665 GC04P158622
GH04H158808 2 FANTOM5 Ensembl ENCODE dbSUPER 13.3 +139.7 139729 7.2 HDGF PKNOX1 FOXA2 ARNT ZFP64 SIN3A FEZF1 YBX1 ZNF2 YY1 FNIP2 PPID ETFDH C4orf46 RAPGEF2 GC04M158795 RNU6-128P GC04P158864
GH04H158605 0.6 ENCODE 21.9 -66.6 -66620 0.3 ZNF316 RFX1 ARNT IKZF1 MAFG NFE2 EMSY ETFDH GC04P158622 ENSG00000249901
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ETFDH on UCSC Golden Path with GeneCards custom track

Genomic Locations for ETFDH Gene

Genomic Locations for ETFDH Gene
37,523 bases
Plus strand

Genomic View for ETFDH Gene

Genes around ETFDH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ETFDH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ETFDH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ETFDH Gene

Proteins for ETFDH Gene

  • Protein details for ETFDH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B4E3R9
    • J3KND9
    • Q7Z347

    Protein attributes for ETFDH Gene

    617 amino acids
    Molecular mass:
    68495 Da
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Quaternary structure:
    • Monomer.
    • Sequence=CAD98030.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Alternative splice isoforms for ETFDH Gene


neXtProt entry for ETFDH Gene

Selected DME Specific Peptides for ETFDH Gene


Post-translational modifications for ETFDH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ETFDH Gene

Domains & Families for ETFDH Gene

Gene Families for ETFDH Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ETF-QO/FixC family.
  • Belongs to the ETF-QO/FixC family.
genes like me logo Genes that share domains with ETFDH: view

Function for ETFDH Gene

Molecular function for ETFDH Gene

GENATLAS Biochemistry:
electron transfer flavoprotein-ubiquinone reductase,inner mitochondrial membrane,oxidative phosphorylation (OXPHOS)
UniProtKB/Swiss-Prot CatalyticActivity:
Reduced electron-transferring flavoprotein + ubiquinone = electron-transferring flavoprotein + ubiquinol.
UniProtKB/Swiss-Prot Function:
Accepts electrons from ETF and reduces ubiquinone.

Enzyme Numbers (IUBMB) for ETFDH Gene

Phenotypes From GWAS Catalog for ETFDH Gene

Gene Ontology (GO) - Molecular Function for ETFDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004174 electron-transferring-flavoprotein dehydrogenase activity TAS --
GO:0009055 electron carrier activity IDA 8306995
GO:0016491 oxidoreductase activity IDA 14640977
GO:0043783 oxidoreductase activity, oxidizing metal ions with flavin as acceptor IBA,ISS --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ETFDH: view
genes like me logo Genes that share phenotypes with ETFDH: view

Human Phenotype Ontology for ETFDH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ETFDH Gene

MGI Knock Outs for ETFDH:

Animal Model Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ETFDH Gene

Localization for ETFDH Gene

Subcellular locations from UniProtKB/Swiss-Prot for ETFDH Gene

Mitochondrion inner membrane.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ETFDH gene
Compartment Confidence
mitochondrion 5
cytosol 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ETFDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ETFDH: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ETFDH Gene

Pathways & Interactions for ETFDH Gene

genes like me logo Genes that share pathways with ETFDH: view

Interacting Proteins for ETFDH Gene

Gene Ontology (GO) - Biological Process for ETFDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006979 response to oxidative stress ISS --
GO:0022900 electron transport chain IDA 8306995
GO:0022904 respiratory electron transport chain TAS,IBA --
GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase IMP 17412732
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with ETFDH: view

No data available for SIGNOR curated interactions for ETFDH Gene

Drugs & Compounds for ETFDH Gene

(11) Drugs for ETFDH Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol Experimental Pharma Target 0
Ubiquinone-1 Experimental Pharma 0
Ubiquinone-2 Experimental Pharma 0
Coenzyme Q10 Experimental Nutra 126

(13) Additional Compounds for ETFDH Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
  • Sulfanediide
  • Sulfide
  • Sulfur
  • Sulphide
genes like me logo Genes that share compounds with ETFDH: view

Transcripts for ETFDH Gene

Unigene Clusters for ETFDH Gene

Electron-transferring-flavoprotein dehydrogenase:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ETFDH Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - - - - - - - -
SP4: -
SP5: - - - -
SP8: - - -

ExUns: 15

Relevant External Links for ETFDH Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ETFDH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ETFDH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ETFDH Gene

This gene is overexpressed in Heart - Left Ventricle (x6.4) and Liver (x4.2).

Protein differential expression in normal tissues from HIPED for ETFDH Gene

This gene is overexpressed in Heart (13.7), Nasal epithelium (11.9), and Liver (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ETFDH Gene

Protein tissue co-expression partners for ETFDH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ETFDH Gene:


SOURCE GeneReport for Unigene cluster for ETFDH Gene:


Evidence on tissue expression from TISSUES for ETFDH Gene

  • Liver(4.5)
  • Intestine(4.2)
  • Lung(4.2)
  • Muscle(2.9)
  • Nervous system(2.9)
  • Heart(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ETFDH Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • mouth
  • nose
  • outer ear
  • skull
  • esophagus
  • heart
  • lung
  • adrenal gland
  • kidney
  • liver
  • stomach
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with ETFDH: view

No data available for mRNA Expression by UniProt/SwissProt for ETFDH Gene

Orthologs for ETFDH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ETFDH Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ETFDH 34 33
  • 99.62 (n)
(Canis familiaris)
Mammalia ETFDH 33 34
  • 92.22 (n)
(Rattus norvegicus)
Mammalia Etfdh 33
  • 89.66 (n)
(Mus musculus)
Mammalia Etfdh 33 16 34
  • 88.64 (n)
(Ornithorhynchus anatinus)
Mammalia ETFDH 34
  • 88 (a)
(Bos Taurus)
Mammalia ETFDH 33 34
  • 86.71 (n)
(Monodelphis domestica)
Mammalia ETFDH 34
  • 78 (a)
(Gallus gallus)
Aves ETFDH 33 34
  • 78.18 (n)
(Anolis carolinensis)
Reptilia ETFDH 34
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia etfdh 33
  • 76.04 (n)
Str.5283 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.19071 33
(Danio rerio)
Actinopterygii etfdh 34 33
  • 71.66 (n)
wufa05a11 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4011 33
fruit fly
(Drosophila melanogaster)
Insecta CG12140 34 35
  • 66 (a)
Etf-QO 33
  • 60.95 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005894 33
  • 60.76 (n)
(Caenorhabditis elegans)
Secernentea let-721 33 34 35
  • 62 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C12991g 33
  • 57.8 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CIR2 33 34 36
  • 57.07 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR387W 33
  • 53.77 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ETFQO 33
  • 57.89 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7097 33
(Oryza sativa)
Liliopsida Os10g0516300 33
  • 59.55 (n)
Os.15767 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5971 34
  • 70 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC20G8.04c 33
  • 57.83 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04768 33
  • 54.07 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13772 33
Species where no ortholog for ETFDH was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ETFDH Gene

Gene Tree for ETFDH (if available)
Gene Tree for ETFDH (if available)

Paralogs for ETFDH Gene

No data available for Paralogs for ETFDH Gene

Variants for ETFDH Gene

Sequence variations from dbSNP and Humsavar for ETFDH Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs121964954 Pathogenic, Glutaric aciduria 2C (GA2C) [MIM:231680] 158,682,269(+) CTGCA(A/G)CTGTT reference, missense
rs121964955 Pathogenic, Glutaric aciduria 2C (GA2C) [MIM:231680], Glutaric aciduria 2C (GA2C) [MIM:231680] 158,685,137(+) TGTAC(A/C/G/T)CTTGG reference, missense
rs121964956 Pathogenic, Glutaric aciduria 2C (GA2C) [MIM:231680] 158,682,399(+) AGAAC(A/C/T)CTTCC reference, missense
rs377656387 Pathogenic, Glutaric aciduria 2C (GA2C) [MIM:231680] 158,706,351(+) GGAGC(C/T)GTGGA reference, missense
rs377686388 Pathogenic, Glutaric aciduria 2C (GA2C) [MIM:231680] 158,699,015(+) ATACC(C/T)GAGTC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ETFDH Gene

Variant ID Type Subtype PubMed ID
nsv830125 CNV gain 17160897

Variation tolerance for ETFDH Gene

Residual Variation Intolerance Score: 15.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.40; 27.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ETFDH Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ETFDH Gene

Disorders for ETFDH Gene

MalaCards: The human disease database

(9) MalaCards diseases for ETFDH Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glutaric acidemia iic
  • glutaric acidemia iia
multiple acyl-coa dehydrogenase deficiency, severe neonatal type
  • glutaric aciduria type 2, severe neonatal type
multiple acyl-coa dehydrogenase deficiency, mild type
  • glutaric aciduria type 2, mild type
isobutyryl-coa dehydrogenase deficiency
  • acad8 deficiency
carnitine deficiency, systemic primary
  • systemic primary carnitine deficiency disease
- elite association - COSMIC cancer census association via MalaCards
Search ETFDH in MalaCards View complete list of genes associated with diseases


  • Glutaric aciduria 2C (GA2C) [MIM:231680]: An autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. {ECO:0000269 PubMed:12359134, ECO:0000269 PubMed:12815589, ECO:0000269 PubMed:16527485, ECO:0000269 PubMed:17412732, ECO:0000269 PubMed:19249206, ECO:0000269 PubMed:20370797}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ETFDH Gene

glutaric acidemia,type II

Relevant External Links for ETFDH

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ETFDH: view

Publications for ETFDH Gene

  1. High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy. (PMID: 20370797) Lan MY … Chen SS (Clinical genetics 2010) 3 4 45 60
  2. ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. (PMID: 19249206) Liang WC … Nishino I (Neuromuscular disorders : NMD 2009) 3 4 22 60
  3. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. (PMID: 17412732) Gempel K … Horvath R (Brain : a journal of neurology 2007) 3 4 22 60
  4. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. (PMID: 12815589) Olsen RK … Gregersen N (Human mutation 2003) 3 4 22 60
  5. Molecular cloning and expression of a cDNA encoding human electron transfer flavoprotein-ubiquinone oxidoreductase. (PMID: 8306995) Goodman SI … Frerman FE (European journal of biochemistry 1994) 3 4 22 60

Products for ETFDH Gene

Sources for ETFDH Gene

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