Human Gene ETFDH (uc010iqr.3)
Description: Homo sapiens electron-transferring-flavoprotein dehydrogenase (ETFDH), nuclear gene encoding mitochondrial protein, mRNA.RefSeq Summary (NM_004453): 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].Transcript (Including UTRs) Position: hg19 chr4:159,593,277-159,629,841 Size: 36,565 Total Exon Count: 5 Strand: +Coding Region Position: hg19 chr4:159,624,668-159,629,679 Size: 5,012 Coding Exon Count: 4
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
Primer design for this transcript
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): ETFDH
CDC HuGE Published Literature: ETFDH
Positive Disease Associations: serum metabolites
Related Studies: serum metabolites 20037589 ]
MalaCards Disease Associations
MalaCards Gene Search: ETFDH
Diseases sorted by gene-association score: glutaric acidemia iic * (1431), multiple acyl-coa dehydrogenase deficiency, severe neonatal type * (350), multiple acyl-coa dehydrogenase deficiency, mild type * (202), isobutyryl-coa dehydrogenase deficiency (13), carnitine deficiency, systemic primary (10), chanarin-dorfman syndrome (7), carnitine palmitoyltransferase ii deficiency (7), riboflavin deficiency (7), 3-hydroxyacyl-coa dehydrogenase deficiency (5)* = Manually curated disease association
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Descriptions from all associated GenBank mRNAs
AK314803 - Homo sapiens cDNA, FLJ95677, Homo sapiens electron-transferring-flavoprotein dehydrogenase(ETFDH), nuclear gene encoding mitochondrial protein, mRNA.LF383797 - JP 2014500723-A/191300: Polycomb-Associated Non-Coding RNAs.BC011890 - Homo sapiens electron-transferring-flavoprotein dehydrogenase, mRNA (cDNA clone MGC:20062 IMAGE:3938660), complete cds.AK311435 - Homo sapiens cDNA, FLJ18477.BX538129 - Homo sapiens mRNA; cDNA DKFZp686J18235 (from clone DKFZp686J18235).AK304838 - Homo sapiens cDNA FLJ52419 complete cds, highly similar to Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial precursor (EC 1.5.5.1).S69232 - electron transfer flavoprotein-ubiquinone oxidoreductase [human, fetal liver, mRNA, 2124 nt].EU093082 - Homo sapiens isolate MADD-1(a) mutant electron-transferring flavoprotein dehydrogenase (ETFDH) mRNA, complete cds.EU093083 - Homo sapiens isolate MADD-1(b) mutant electron-transferring flavoprotein dehydrogenase (ETFDH) mRNA, complete cds, alternatively spliced.KJ896787 - Synthetic construct Homo sapiens clone ccsbBroadEn_06181 ETFDH gene, encodes complete protein.KR710434 - Synthetic construct Homo sapiens clone CCSBHm_00012518 ETFDH (ETFDH) mRNA, encodes complete protein.KR710435 - Synthetic construct Homo sapiens clone CCSBHm_00012527 ETFDH (ETFDH) mRNA, encodes complete protein.KR710436 - Synthetic construct Homo sapiens clone CCSBHm_00012536 ETFDH (ETFDH) mRNA, encodes complete protein.KR710437 - Synthetic construct Homo sapiens clone CCSBHm_00012550 ETFDH (ETFDH) mRNA, encodes complete protein.KY419094 - Homo sapiens electron transfer flavoprotein dehydrogenase mRNA, complete cds.KY419095 - Homo sapiens electron transfer flavoprotein dehydrogenase mRNA, complete cds.AK293737 - Homo sapiens cDNA FLJ59482 complete cds, highly similar to Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial precursor (EC 1.5.5.1).LF351946 - JP 2014500723-A/159449: Polycomb-Associated Non-Coding RNAs.JD063388 - Sequence 44412 from Patent EP1572962.MA619374 - JP 2018138019-A/191300: Polycomb-Associated Non-Coding RNAs.MA587523 - JP 2018138019-A/159449: Polycomb-Associated Non-Coding RNAs.
Other Names for This Gene
Alternate Gene Symbols: EU093083UCSC ID: uc010iqr.3RefSeq Accession: NM_004453
GeneReviews for This Gene
GeneReviews article(s) related to gene ETFDH:madd
Gene Model Information
category:
coding
nonsense-mediated-decay:
no
RNA accession:
EU093083.1
exon count:
5 CDS single in 3' UTR:
no
RNA size:
865 ORF size:
645 CDS single in intron:
no
Alignment % ID:
100.00 txCdsPredict score:
1310.00 frame shift in genome:
no
% Coverage:
100.00 has start codon:
yes
stop codon in genome:
no
# of Alignments:
1 has end codon:
yes
retained intron:
no
# AT/AC introns
0 selenocysteine:
no
end bleed into intron:
0 # strange splices:
0
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Methods, Credits, and Use Restrictions
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US Server
