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ETFDH electron transfer flavoprotein dehydrogenase [ Homo sapiens (human) ]

Gene ID: 2110, updated on 11-Apr-2024

Summary

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Official Symbol
ETFDHprovided by HGNC
Official Full Name
electron transfer flavoprotein dehydrogenaseprovided by HGNC
Primary source
HGNC:HGNC:3483
See related
Ensembl:ENSG00000171503 MIM:231675; AllianceGenome:HGNC:3483
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MADD; ETFQO
Summary
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]
Expression
Ubiquitous expression in liver (RPKM 42.8), duodenum (RPKM 28.5) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
4q32.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (158672296..158709623)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (162023044..162060372)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (159593448..159630775)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900802 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22084 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:159461287-159462486 Neighboring gene relaxin family peptide receptor 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:159501162-159501738 Neighboring gene Sharpr-MPRA regulatory region 15067 Neighboring gene NANOG hESC enhancer GRCh37_chr4:159577538-159578061 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:159580614-159581120 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:159592018-159592654 Neighboring gene H3K27ac hESC enhancers GRCh37_chr4:159592655-159593291 and GRCh37_chr4:159593295-159593796 Neighboring gene small nucleolar RNA U3 Neighboring gene chromosome 4 open reading frame 46 Neighboring gene hESC enhancers GRCh37_chr4:159643958-159644541 and GRCh37_chr4:159644542-159645126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15773 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:159690086-159690823 Neighboring gene peptidylprolyl isomerase D Neighboring gene Sharpr-MPRA regulatory region 12747 Neighboring gene RNA, U6 small nuclear 128, pseudogene Neighboring gene folliculin interacting protein 2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:159766516-159767164 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:159802306-159803286 Neighboring gene Sharpr-MPRA regulatory region 14183 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:159823055-159823920 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:159823921-159824786 Neighboring gene uncharacterized LOC124900178 Neighboring gene sperm microtubule inner protein 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. ETF dehydrogenase advances in molecular genetics and impact on treatment. Missaglia S, et al. Crit Rev Biochem Mol Biol, 2021 Aug. PMID 33823724
  2. Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency. Wang C, et al. Mol Med Rep, 2020 Nov. PMID 33000234, Free PMC Article
  3. A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family. Ou M, et al. BMC Med Genet, 2020 May 11. PMID 32393189, Free PMC Article
  4. Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations. Chen W, et al. BMC Neurol, 2019 Dec 18. PMID 31852447, Free PMC Article
  5. Expression and significance of ETFDH in hepatocellular carcinoma. Wu Y, et al. Pathol Res Pract, 2019 Dec. PMID 31704152

See all (54) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Multiple acyl-CoA dehydrogenase deficiency kills Mycobacterium tuberculosis in vitro and during infection.
    Title: Multiple acyl-CoA dehydrogenase deficiency kills Mycobacterium tuberculosis in vitro and during infection.
  2. Screening of multiple acyl-CoA dehydrogenase deficiency in newborns and follow-up of patients.
    Title: Screening of multiple acyl-CoA dehydrogenase deficiency in newborns and follow-up of patients.
  3. ETF dehydrogenase advances in molecular genetics and impact on treatment.
    Title: ETF dehydrogenase advances in molecular genetics and impact on treatment.
  4. Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.
    Title: Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.
  5. Clinical characteristics and gene mutation analysis of an adult patient with ETFDHrelated multiple acylCoA dehydrogenase deficiency.
    Title: Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency.
  6. Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.
    Title: Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.
  7. the two variants of ETFDH gene identified probably underlie the pathogenesis of Glutaric acidemia type II in this family, and also enlarge ETFDH genotype-phenotype correlations spectrum.
    Title: A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family.
  8. Low tumor expression of ETFDH was associated with a poorer overall survival in patients with hepatocellular carcinoma.
    Title: Expression and significance of ETFDH in hepatocellular carcinoma.
  9. A mutation is the most common EFTDH mutation in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency and is most prevalent in China and South-East Asia where its epidemiology correlates with the distribution and migration patterns of the southern Min population in Southern China and neighbouring countries
    Title: Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations.
  10. Mutations of the ETFDH gene probably underlie the pathogenesis of lipid storage myopathy in this family
    Title: [Analysis of ETFDH gene variation in a Chinese family affected with lipid storage myopathy].
Submit: New GeneRIF Correction See all GeneRIFs (32)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide perspective of genetic variation in human metabolism.
EBI GWAS Catalog
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Human metabolic individuality in biomedical and pharmaceutical research.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ18477

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 4 iron, 4 sulfur cluster binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables electron transfer activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables electron-transferring-flavoprotein dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables electron-transferring-flavoprotein dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables electron-transferring-flavoprotein dehydrogenase activity TAS
Traceable Author Statement
more info
  
enables flavin adenine dinucleotide binding ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables oxidoreductase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables quinone binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables ubiquinone binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in electron transport chain IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in electron transport chain IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in respiratory electron transport chain TAS
Traceable Author Statement
more info
  
involved_in response to oxidative stress ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrial membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial
Names
ETF dehydrogenase
ETF-QO
ETF-ubiquinone oxidoreductase
electron-transferring-flavoprotein dehydrogenase
mutant electron transfer flavoprotein dehydrogenase
NP_001268666.1
NP_001268667.1
NP_004444.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007078.2 RefSeqGene

    Range
    4955..42282
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001281737.2 → NP_001268666.1  electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an an alternate in-frame exon in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.
    Source sequence(s)
    AC107219, AK293737, AK304838, DA798232
    Consensus CDS
    CCDS64090.1
    UniProtKB/TrEMBL
    Q547S8
    Related
    ENSP00000303552.5, ENST00000307738.5
    Conserved Domains (3) summary
    COG0644
    Location:20 → 482
    FixC; Dehydrogenase (flavoprotein) [Energy production and conversion]
    pfam05187
    Location:465 → 568
    ETF_QO; Electron transfer flavoprotein-ubiquinone oxidoreductase, 4Fe-4S
    cl21454
    Location:21 → 170
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

  2. NM_001281738.1 → NP_001268667.1  electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial isoform 3

    See identical proteins and their annotated locations for NP_001268667.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents use of an alternate promoter, differs in the 5' UTR, and uses a downstream start codon compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK293737, DB221748
    Consensus CDS
    CCDS93661.1
    UniProtKB/TrEMBL
    B4DEQ0, Q547S8
    Related
    ENSP00000508043.1, ENST00000683305.1
    Conserved Domains (2) summary
    COG0644
    Location:6 → 468
    FixC; Dehydrogenase (flavoprotein) [Energy production and conversion]
    pfam05187
    Location:451 → 554
    ETF_QO; Electron transfer flavoprotein-ubiquinone oxidoreductase, 4Fe-4S

  3. NM_004453.4 → NP_004444.2  electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_004444.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
    Source sequence(s)
    AC107219, AK293737, BC011890, BX957055, DA798232
    Consensus CDS
    CCDS3800.1
    UniProtKB/Swiss-Prot
    B4E3R9, J3KND9, Q16134, Q7Z347
    UniProtKB/TrEMBL
    A0A2I6U1K5, A0A2I6U1Q3, Q547S8
    Related
    ENSP00000426638.1, ENST00000511912.6
    Conserved Domains (3) summary
    COG0644
    Location:67 → 529
    FixC; Dehydrogenase (flavoprotein) [Energy production and conversion]
    pfam05187
    Location:512 → 615
    ETF_QO; Electron transfer flavoprotein-ubiquinone oxidoreductase, 4Fe-4S
    cl21454
    Location:68 → 217
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    158672296..158709623
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    162023044..162060372
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q16134.2 GenPept UniProtKB/Swiss-Prot:Q16134

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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