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Aliases for ETFA Gene

Aliases for ETFA Gene

  • Electron Transfer Flavoprotein Alpha Subunit 2 3 5
  • Glutaric Aciduria II 2 3
  • Alpha-ETF 3 4
  • Electron Transfer Flavoprotein Subunit Alpha, Mitochondrial 3
  • Electron-Transfer-Flavoprotein, Alpha Polypeptide 2
  • Electron Transfer Flavoprotein, Alpha Polypeptide 3
  • MADD 3
  • EMA 3
  • GA2 3

External Ids for ETFA Gene

Previous GeneCards Identifiers for ETFA Gene

  • GC15M072396
  • GC15M069598
  • GC15M074084
  • GC15M074224
  • GC15M074295
  • GC15M076508
  • GC15M053265

Summaries for ETFA Gene

Entrez Gene Summary for ETFA Gene

  • ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for ETFA Gene

ETFA (Electron Transfer Flavoprotein Alpha Subunit) is a Protein Coding gene. Diseases associated with ETFA include Glutaric Acidemia Iic and Multiple Acyl-Coa Dehydrogenation Deficiency, Mild 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 ETFA Gene

  • The electron transfer flavoprotein serves as a specific electron acceptor for several dehydrogenases, including five acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase. It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase).

Gene Wiki entry for ETFA Gene

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

Genomics for ETFA Gene

Regulatory Elements for ETFA Gene

Enhancers for ETFA 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around ETFA on UCSC Golden Path with GeneCards custom track

Promoters for ETFA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for ETFA Gene

Chromosome:
15
Start:
76,215,355 bp from pter
End:
76,311,472 bp from pter
Size:
96,118 bases
Orientation:
Minus strand

Genomic View for ETFA Gene

Genes around ETFA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ETFA Gene

Proteins for ETFA Gene

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

    Protein Symbol:
    P13804-ETFA_HUMAN
    Recommended name:
    Electron transfer flavoprotein subunit alpha, mitochondrial
    Protein Accession:
    P13804
    Secondary Accessions:
    • B4DT43
    • Q53XN3

    Protein attributes for ETFA Gene

    Size:
    333 amino acids
    Molecular mass:
    35080 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Electron transfer flavoprotein is a heterodimer composed of ETFA and ETFB.

    Three dimensional structures from OCA and Proteopedia for ETFA Gene

    Alternative splice isoforms for ETFA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ETFA Gene

Post-translational modifications for ETFA Gene

Antibody Products

No data available for DME Specific Peptides for ETFA Gene

Domains & Families for ETFA Gene

Graphical View of Domain Structure for InterPro Entry

P13804

UniProtKB/Swiss-Prot:

ETFA_HUMAN :
  • Domain I shares an identical polypeptide fold with the beta subunit ETFB though there is no sequence similarity.
  • Belongs to the ETF alpha-subunit/FixB family.
Domain:
  • Domain I shares an identical polypeptide fold with the beta subunit ETFB though there is no sequence similarity.
Family:
  • Belongs to the ETF alpha-subunit/FixB family.
genes like me logo Genes that share domains with ETFA: view

No data available for Gene Families for ETFA Gene

Function for ETFA Gene

Molecular function for ETFA Gene

GENATLAS Biochemistry:
electron transfer flavoprotein,alpha (32kDa),with the unstable variant T171I overreprinted in ACADVL deficient patients with mild childhood presentation
UniProtKB/Swiss-Prot Function:
The electron transfer flavoprotein serves as a specific electron acceptor for several dehydrogenases, including five acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase. It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase).

Gene Ontology (GO) - Molecular Function for ETFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000062 fatty-acyl-CoA binding IBA --
GO:0003995 acyl-CoA dehydrogenase activity IBA --
GO:0005515 protein binding IEA --
GO:0009055 electron carrier activity IDA 10423253
GO:0016491 oxidoreductase activity IDA 9334218
genes like me logo Genes that share ontologies with ETFA: view
genes like me logo Genes that share phenotypes with ETFA: view

Human Phenotype Ontology for ETFA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for ETFA Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ETFA Gene

Localization for ETFA Gene

Subcellular locations from UniProtKB/Swiss-Prot for ETFA Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ETFA Gene COMPARTMENTS Subcellular localization image for ETFA gene
Compartment Confidence
extracellular 5
mitochondrion 5
golgi apparatus 2
lysosome 2
vacuole 2
cytosol 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ETFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 20833797
GO:0005759 mitochondrial matrix TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with ETFA: view

Pathways & Interactions for ETFA Gene

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

Gene Ontology (GO) - Biological Process for ETFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022904 respiratory electron transport chain TAS --
GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase IDA 25416781
GO:0055088 lipid homeostasis IBA --
genes like me logo Genes that share ontologies with ETFA: view

No data available for SIGNOR curated interactions for ETFA Gene

Drugs & Compounds for ETFA Gene

(1) Drugs for ETFA Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0

(1) Additional Compounds for ETFA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ETFA: view

Transcripts for ETFA Gene

Unigene Clusters for ETFA Gene

Electron-transfer-flavoprotein, alpha polypeptide:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

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

Relevant External Links for ETFA Gene

GeneLoc Exon Structure for
ETFA
ECgene alternative splicing isoforms for
ETFA

Expression for ETFA Gene

mRNA expression in normal human tissues for ETFA Gene

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

This gene is overexpressed in Heart - Left Ventricle (x4.2) and Liver (x4.1).

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



Protein tissue co-expression partners for ETFA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ETFA Gene:

ETFA

SOURCE GeneReport for Unigene cluster for ETFA Gene:

Hs.39925
genes like me logo Genes that share expression patterns with ETFA: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ETFA Gene

Orthologs for ETFA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ETFA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ETFA 34
  • 93.39 (n)
  • 95.2 (a)
ETFA 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ETFA 34
  • 93.49 (n)
  • 94.59 (a)
ETFA 35
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ETFA 34
  • 99.4 (n)
  • 99.4 (a)
ETFA 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Etfa 34
  • 92.19 (n)
  • 95.2 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 89 (a)
OneToMany
-- 35
  • 72 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Etfa 35
  • 96 (a)
OneToOne
Etfa 16
Etfa 34
  • 91.69 (n)
  • 95.8 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia ETFA 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves ETFA 34
  • 78.47 (n)
  • 84.78 (a)
ETFA 35
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ETFA 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia etfa 34
  • 73.27 (n)
  • 78.98 (a)
Str.3137 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.24246 34
zebrafish
(Danio rerio)
Actinopterygii etfa 34
  • 70.58 (n)
  • 80.72 (a)
etfa 35
  • 78 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9018 34
fruit fly
(Drosophila melanogaster)
Insecta wal 36
  • 70 (a)
wal 34
  • 63.22 (n)
  • 70.85 (a)
wal 35
  • 69 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004031 34
  • 59.96 (n)
  • 66.46 (a)
worm
(Caenorhabditis elegans)
Secernentea CELE_F27D4.1 34
  • 62.94 (n)
  • 64.54 (a)
F27D4.1 35
  • 61 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL054W 34
  • 50.72 (n)
  • 53.4 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E14037g 34
  • 55.91 (n)
  • 50.95 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AIM45 35
  • 44 (a)
OneToOne
AIM45 37
AIM45 34
  • 52.06 (n)
  • 47.73 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons ETFALPHA 34
  • 57.69 (n)
  • 53.21 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.11363 34
barley
(Hordeum vulgare)
Liliopsida Hv.4786 34
rice
(Oryza sativa)
Liliopsida Os03g0835400 34
  • 55.42 (n)
  • 53.31 (a)
Os.14084 34
wheat
(Triticum aestivum)
Liliopsida Ta.7134 34
corn
(Zea mays)
Liliopsida Zm.9255 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2139 34
bread mold
(Neurospora crassa)
Ascomycetes NCU08004 34
  • 54.14 (n)
  • 54.97 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC27D7.06 34
  • 52.24 (n)
  • 44.51 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8750 35
  • 66 (a)
OneToOne
Species where no ortholog for ETFA was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • 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)

Evolution for ETFA Gene

ENSEMBL:
Gene Tree for ETFA (if available)
TreeFam:
Gene Tree for ETFA (if available)

Paralogs for ETFA Gene

genes like me logo Genes that share paralogs with ETFA: view

No data available for Paralogs for ETFA Gene

Variants for ETFA Gene

Sequence variations from dbSNP and Humsavar for ETFA Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs119458971 Glutaric aciduria 2A (GA2A) 76,292,436(-) CCTTC(A/G)GAAAG nc-transcript-variant, reference, missense
rs119458969 Glutaric aciduria 2A (GA2A) 76,286,463(-) TACAG(G/T)GAAGT nc-transcript-variant, reference, missense
rs119458970 Glutaric aciduria 2A (GA2A) 76,274,431(-) ACAGA(C/T)GGGAA nc-transcript-variant, reference, missense
rs1801591 - 76,286,421(-) TGGAA(C/T)ATCCT nc-transcript-variant, reference, missense
rs2938697 -- 76,262,650(+) gctaa(C/T)ttttt intron-variant

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

Variant ID Type Subtype PubMed ID
esv1180027 CNV insertion 17803354
esv2749895 CNV deletion 23290073
esv2749898 CNV deletion 23290073
esv3581766 CNV loss 25503493
nsv1116463 OTHER inversion 24896259
nsv1128727 CNV duplication 24896259
nsv1618 CNV insertion 18451855
nsv520069 CNV loss 19592680
nsv527608 CNV loss 19592680
nsv569998 CNV gain 21841781
nsv833057 CNV loss 17160897
nsv958019 CNV deletion 24416366

Variation tolerance for ETFA Gene

Residual Variation Intolerance Score: 29.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.10; 61.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ETFA Gene

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

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

Disorders for ETFA Gene

MalaCards: The human disease database

(9) MalaCards diseases for ETFA Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

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

UniProtKB/Swiss-Prot

ETFA_HUMAN
  • Glutaric aciduria 2A (GA2A) [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:1430199, ECO:0000269 PubMed:1882842}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ETFA Gene

glutaric aciduria IIA,early onset

Relevant External Links for ETFA

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

Publications for ETFA Gene

  1. 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 65
  2. Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II -- and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient. (PMID: 1882842) Indo Y. … Tanaka K. (Am. J. Hum. Genet. 1991) 3 4 22 65
  3. Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. (PMID: 22491018) Wang J. … Platt A. (Pharmacogenomics J. 2013) 3 46 65
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 65
  5. Clinical and genetic analysis of lipid storage myopathies. (PMID: 19208393) Ohkuma A. … Nishino I. (Muscle Nerve 2009) 3 46 65

Products for ETFA Gene

Sources for ETFA Gene

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