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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 1.5.5.1 4 61
  • 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 Dehydrogenation Deficiency, Severe Neonatal Type. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. 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

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
GH04G158721 1.4 FANTOM5 ENCODE 31.3 +50.9 50889 2.7 PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ETFDH PPID FNIP2 ENSG00000271817
GH04G158540 1.3 FANTOM5 Ensembl ENCODE 28.9 -130.5 -130539 3.9 CTCF CBX3 TAL1 JUN ZNF175 FOSL1 ZNF316 GATA2 NFE2 FOS ETFDH FNIP2 PPID ENSG00000249901 GC04P158622
GH04G158663 1.1 Ensembl ENCODE 31.1 -8.2 -8151 1.5 HDAC1 HDGF PKNOX1 ATF1 ARNT AGO1 NFRKB NFXL1 ZBTB40 TCF12 ETFDH GC04P158665 GC04P158622
GH04G158808 2 FANTOM5 Ensembl ENCODE dbSUPER 13.2 +139.7 139729 7.2 HDGF PKNOX1 FOXA2 ARNT ZFP64 WRNIP1 FEZF1 YBX1 ZNF2 YY1 FNIP2 PPID ETFDH RAPGEF2 RNU6-128P GC04M158795 GC04P158864
GH04G158605 0.7 ENCODE 21.9 -66.6 -66620 0.3 RFX1 ARNT MAFG MAX YY1 ZNF316 JUND IKZF1 NFE2L1 NFE2 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

Promoters for ETFDH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000175456 -201 2601 MLX CREB3L1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC SSRP1 ZNF610

Genomic Location for ETFDH Gene

Chromosome:
4
Start:
158,672,101 bp from pter
End:
158,709,623 bp from pter
Size:
37,523 bases
Orientation:
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:
    Q16134-ETFD_HUMAN
    Recommended name:
    Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial
    Protein Accession:
    Q16134
    Secondary Accessions:
    • B4E3R9
    • J3KND9
    • Q7Z347

    Protein attributes for ETFDH Gene

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

    Alternative splice isoforms for ETFDH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ETFDH Gene

Selected DME Specific Peptides for ETFDH Gene

Q16134:
  • ELFPDWKE
  • DKRWEGVNMERFAEEADVVIVGAGPAGLSAA
  • HTAMKSG
  • VRNIRPS
  • NHGNYIVRLG
  • VTEYEDNLK
  • SIFNQLT
  • NCEPQTYG
  • TYGIGLKELW
  • RVCLVEKAA
  • LKPAKDCTPIEYPKPDGQISFDLLSSVALSGTNHEHDQP
  • VRLGHLVSWMGEQAEALGVEVYPGYAAAE
  • IGAHTLSGACLDP
  • HCKTCDIK
  • PWTLKHKG
  • NEGGFQSIPKL
  • PKLTFPGG
  • QLTSENLQSKT
  • ARALNEGG
  • DGSVKGIATNDVGIQKDGAPK
  • TIFAEGC

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

Graphical View of Domain Structure for InterPro Entry

Q16134

UniProtKB/Swiss-Prot:

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

No data available for Gene Families for ETFDH Gene

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

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

CRISPR Products

Inhibitory RNA 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

COMPARTMENTS
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

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 --
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 121

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
QH(2)
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • Sulfanediide
  • Sulfide
  • Sulfur
  • Sulphide
18496-25-8
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:

CRISPR Products

Inhibitory RNA Products

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: - - - -
SP6:
SP7:
SP8: - - -

ExUns: 15
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for ETFDH Gene

GeneLoc Exon Structure for
ETFDH
ECgene alternative splicing isoforms for
ETFDH

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:

ETFDH

SOURCE GeneReport for Unigene cluster for ETFDH Gene:

Hs.155729

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)

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

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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia ETFDH 34 35
  • 99.62 (n)
dog
(Canis familiaris)
Mammalia ETFDH 34 35
  • 92.22 (n)
rat
(Rattus norvegicus)
Mammalia Etfdh 34
  • 89.66 (n)
mouse
(Mus musculus)
Mammalia Etfdh 34 16 35
  • 88.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ETFDH 35
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ETFDH 34 35
  • 86.71 (n)
oppossum
(Monodelphis domestica)
Mammalia ETFDH 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ETFDH 34 35
  • 78.18 (n)
lizard
(Anolis carolinensis)
Reptilia ETFDH 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia etfdh 34
  • 76.04 (n)
Str.5283 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.19071 34
zebrafish
(Danio rerio)
Actinopterygii etfdh 34 35
  • 71.66 (n)
wufa05a11 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4011 34
fruit fly
(Drosophila melanogaster)
Insecta CG12140 36 35
  • 66 (a)
Etf-QO 34
  • 60.95 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005894 34
  • 60.76 (n)
worm
(Caenorhabditis elegans)
Secernentea let-721 36 34 35
  • 62 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C12991g 34
  • 57.8 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CIR2 34 35 37
  • 57.07 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR387W 34
  • 53.77 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ETFQO 34
  • 57.89 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7097 34
rice
(Oryza sativa)
Liliopsida Os10g0516300 34
  • 59.55 (n)
Os.15767 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5971 35
  • 70 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC20G8.04c 34
  • 57.83 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04768 34
  • 54.07 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13772 34
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

ENSEMBL:
Gene Tree for ETFDH (if available)
TreeFam:
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)
ETFDH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ETFDH

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

Disorders for ETFDH Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search ETFDH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ETFD_HUMAN
  • 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)
ETFDH
Human Genome Epidemiology (HuGE) Navigator
ETFDH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ETFDH
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 M.Y. … Chen S.S. (Clin. Genet. 2010) 3 4 46 64
  2. ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. (PMID: 19249206) Liang W.C. … Nishino I. (Neuromuscul. Disord. 2009) 3 4 22 64
  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 2007) 3 4 22 64
  4. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. (PMID: 12815589) Olsen R.K.J. … Gregersen N. (Hum. Mutat. 2003) 3 4 22 64
  5. Molecular cloning and expression of a cDNA encoding human electron transfer flavoprotein-ubiquinone oxidoreductase. (PMID: 8306995) Goodman S.I. … Frerman F.E. (Eur. J. Biochem. 1994) 3 4 22 64

Products for ETFDH Gene

Sources for ETFDH Gene

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