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Aliases for ETFDH Gene

Aliases for ETFDH Gene

  • Electron Transfer Flavoprotein Dehydrogenase 2 3
  • Electron-Transferring-Flavoprotein Dehydrogenase 2 3 4 5
  • ETF-Ubiquinone Oxidoreductase 3 4
  • ETF Dehydrogenase 3 4
  • EC 1.5.5.1 4 63
  • ETF-QO 3 4
  • 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, mild type. Among its related pathways are Signaling by GPCR 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ETFDH Gene

Genomics for ETFDH Gene

Regulatory Elements for ETFDH Gene

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

Proteomics data for ETFDH Gene at MOPED

Post-translational modifications for ETFDH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ETFDH Gene

Antibody Products

Domains & Families for ETFDH Gene

Graphical View of Domain Structure for InterPro Entry

Q16134

UniProtKB/Swiss-Prot:

ETFD_HUMAN :
  • Contains 1 4Fe-4S ferredoxin-type domain.
  • Belongs to the ETF-QO/FixC family.
Domain:
  • Contains 1 4Fe-4S ferredoxin-type domain.
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:0050660 flavin adenine dinucleotide binding ISS 17050691
GO:0051536 iron-sulfur cluster 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 Model Products

No data available for Animal Models , 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
Jensen Localization Image for ETFDH Gene COMPARTMENTS Subcellular localization image for ETFDH gene
Compartment Confidence
mitochondrion 5
cytosol 2
endoplasmic reticulum 1

No data available for Gene Ontology (GO) - Cellular Components for ETFDH Gene

Pathways & Interactions for ETFDH Gene

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

Gene Ontology (GO) - Biological Process for ETFDH Gene

None

No data available for SIGNOR curated interactions for ETFDH Gene

Drugs & Compounds for ETFDH Gene

(10) Drugs for ETFDH Gene - From: HMDB, DrugBank, 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 Nutra 104

(14) 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:

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 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, MOPED, and MaxQB for ETFDH Gene



SOURCE GeneReport for Unigene cluster for ETFDH Gene Hs.155729

genes like me logo Genes that share expression patterns with ETFDH: view

Protein tissue co-expression partners for ETFDH Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia ETFDH 35
  • 86.71 (n)
  • 94.17 (a)
ETFDH 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ETFDH 35
  • 92.22 (n)
  • 94.98 (a)
ETFDH 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Etfdh 35
  • 88.64 (n)
  • 92.53 (a)
Etfdh 16
Etfdh 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ETFDH 35
  • 99.62 (n)
  • 99.68 (a)
ETFDH 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Etfdh 35
  • 89.66 (n)
  • 93.51 (a)
oppossum
(Monodelphis domestica)
Mammalia ETFDH 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ETFDH 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves ETFDH 35
  • 78.18 (n)
  • 85.05 (a)
ETFDH 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ETFDH 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia etfdh 35
  • 76.04 (n)
  • 83.41 (a)
Str.5283 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.19071 35
zebrafish
(Danio rerio)
Actinopterygii etfdh 35
  • 71.66 (n)
  • 80.78 (a)
wufa05a11 35
etfdh 36
  • 80 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4011 35
fruit fly
(Drosophila melanogaster)
Insecta CG12140 37
  • 66 (a)
Etf-QO 35
  • 60.95 (n)
  • 66.55 (a)
CG12140 36
  • 66 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005894 35
  • 60.76 (n)
  • 69.88 (a)
worm
(Caenorhabditis elegans)
Secernentea let-721 37
  • 63 (a)
let-721 35
  • 62 (n)
  • 63.75 (a)
let-721 36
  • 62 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR387W 35
  • 53.77 (n)
  • 50.34 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C12991g 35
  • 57.8 (n)
  • 52.3 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CIR2 35
  • 57.07 (n)
  • 54.74 (a)
CIR2 36
  • 50 (a)
OneToOne
CIR2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons ETFQO 35
  • 57.89 (n)
  • 53.17 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7097 35
rice
(Oryza sativa)
Liliopsida Os.15767 35
Os10g0516300 35
  • 59.55 (n)
  • 56.49 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13772 35
bread mold
(Neurospora crassa)
Ascomycetes NCU04768 35
  • 54.07 (n)
  • 55.5 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC20G8.04c 35
  • 57.83 (n)
  • 55.06 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5971 36
  • 70 (a)
OneToOne
Species with no ortholog for ETFDH:
  • 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
VAR_036134 A colorectal cancer sample
rs1140065 - 158,682,300(+) GGCAC(A/G)TGAAA reference, missense
rs11559290 - 158,680,524(+) TGCTA(C/T)AAGAT intron-variant, upstream-variant-2KB, reference, missense
VAR_075438 -
VAR_075439 -

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

HapMap Linkage Disequilibrium report
ETFDH
Human Gene Mutation Database (HGMD)
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, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

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 48 67
  2. Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations. (PMID: 19758981) Wen B. … Yan C. (J. Neurol. Neurosurg. Psychiatr. 2010) 3 23
  3. High resolution melting analysis facilitates mutation screening of ETFDH gene: applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. (PMID: 20138856) Er T.K. … Jong Y.J. (Clin. Chim. Acta 2010) 3 23
  4. 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 23
  5. Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. (PMID: 19265687) Law L.K. … Lam C.W. (Clin. Chim. Acta 2009) 3 23

Products for ETFDH Gene

Sources for ETFDH Gene

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