ETFA Gene (Protein Coding)

Electron Transfer Flavoprotein Subunit Alpha

GC15M076215
GIFtS:
45
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 defi... See more...

Aliases for ETFA Gene

Aliases for ETFA Gene

  • Electron Transfer Flavoprotein Subunit Alpha 2 3 5
  • Electron Transfer Flavoprotein Subunit Alpha, Mitochondrial 3 4
  • Glutaric Aciduria II 2 3
  • Alpha-ETF 3 4
  • Electron Transfer Flavoprotein, Alpha Polypeptide 3
  • Electron-Transfer-Flavoprotein, Alpha Polypeptide 2
  • Electron Transfer Flavoprotein Alpha Subunit 3
  • Epididymis Secretory Sperm Binding Protein 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 Subunit Alpha) is a Protein Coding gene. Diseases associated with ETFA include Multiple Acyl-Coa Dehydrogenase Deficiency and Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and flavin adenine dinucleotide binding.

UniProtKB/Swiss-Prot Summary for ETFA Gene

  • Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase (PubMed:27499296, PubMed:15159392, PubMed:15975918, PubMed:9334218, PubMed:10356313). It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase) (PubMed:9334218). Required for normal mitochondrial fatty acid oxidation and normal amino acid metabolism (PubMed:12815589, PubMed:1882842, PubMed:1430199).

Gene Wiki entry for ETFA Gene

Additional gene information for ETFA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ETFA Gene

Genomics for ETFA Gene

GeneHancer (GH) Regulatory Elements for ETFA Gene

Promoters and enhancers for ETFA Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH15J076309 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 514.2 -1.0 -1033 6.2 ZNF217 EP300 TCF12 NRF1 POLR2G USF1 SP1 NCOR1 PHF8 ZFX ETFA lnc-ISL2-2 lnc-SCAPER-3 SIN3A DNM1P35 SCAPER MAN2C1 ENSG00000260274 TYRO3P ENSG00000187812
GH15J076335 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.3 -28.0 -27958 8.8 FOXK2 ZBTB40 ZNF217 TCF12 NRF1 USF1 POLR2G NCOR1 GTF2E2 ZNF639 ISL2 SCAPER ETFA NEIL1 FBXO22 RCN2 ENSG00000259652 MAN2C1 ENSG00000259514 ENSG00000270036
GH15J076285 Promoter/Enhancer 0.9 Ensembl ENCODE 13.9 +25.0 24977 1.8 CTCF IRF1 ELF1 SCRT1 TBX21 TCF7 BHLHE40 TRIM22 ZNF770 ZNF121 lnc-SCAPER-4 piR-50444-136 SCAPER ETFA
GH15J076993 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.8 -685.3 -685347 7.4 JUND FOS POLR2A MXI1 BCL11A RELA TCF12 FOXA2 FOSL2 MEF2B PSTPIP1 SCAPER TSPAN3 ETFA ENSG00000269951 RF00017-1857
GH15J076195 Enhancer 1.2 Ensembl ENCODE dbSUPER 5.4 +113.2 113171 5.8 TCF12 JUND FOS ZIC2 REST CTBP1 SKI TEAD1 ZKSCAN8 MEF2A SCAPER NRG4 TMEM266 ISL2 ETFA TSPAN3 lnc-ETFA-6 ENSG00000196274
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ETFA on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ETFA

Top Transcription factor binding sites by QIAGEN in the ETFA gene promoter:
  • ATF6
  • Cart-1
  • HTF
  • ITF-2
  • POU2F1
  • POU2F1a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • Tal-1beta

Genomic Locations for ETFA Gene

Genomic Locations for ETFA Gene
chr15:76,215,353-76,311,472
(GRCh38/hg38)
Size:
96,120 bases
Orientation:
Minus strand
chr15:76,507,696-76,603,813
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for ETFA Gene

Proteins for ETFA Gene

Products:

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  3. Assay

  • 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:
    • Heterodimer composed of ETFA and ETFB (PubMed:8962055, PubMed:15159392, PubMed:15975918, PubMed:9334218). Identified in a complex that contains ETFA, ETFB and ETFRF1 (PubMed:27499296). Interaction with ETFRF1 promotes dissociation of the bound FAD and loss of electron transfer activity (PubMed:27499296).

    Three dimensional structures from OCA and Proteopedia for ETFA Gene

    Alternative splice isoforms for ETFA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ETFA Gene

Protein Expression for ETFA Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ETFA Gene

Other Protein References for ETFA Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ETFA Gene

Domains & Families for ETFA Gene

Gene Families for ETFA Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ETFA Gene

Blocks:
  • Electron transfer flavoprotein, alpha subunit
  • Electron transfer flavoprotein, alpha subunit, C-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ETFA Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50859, highly similar to Electron transfer flavoprotein subunit alpha, mitochondrial (B4DT43_HUMAN)
  • Electron transfer flavoprotein subunit alpha, mitochondrial (ETFA_HUMAN)
  • cDNA FLJ76486, highly similar to Homo sapiens electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II) (ETFA), nuclear gene encoding mitochondrial protein, mRNA (Q53XN3_HUMAN)

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

Function for ETFA Gene

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  2. CRISPR
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Molecular function for ETFA Gene

UniProtKB/Swiss-Prot Function:
Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase (PubMed:27499296, PubMed:15159392, PubMed:15975918, PubMed:9334218, PubMed:10356313). It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase) (PubMed:9334218). Required for normal mitochondrial fatty acid oxidation and normal amino acid metabolism (PubMed:12815589, PubMed:1882842, PubMed:1430199).
GENATLAS Biochemistry:
electron transfer flavoprotein,alpha (32kDa),with the unstable variant T171I overreprinted in ACADVL deficient patients with mild childhood presentation

Phenotypes From GWAS Catalog for ETFA Gene

Gene Ontology (GO) - Molecular Function for ETFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24606901
GO:0009055 electron transfer activity IEA,IDA 10423253
GO:0016491 oxidoreductase activity IBA,IDA 9334218
GO:0050660 flavin adenine dinucleotide binding IEA,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

miRTarBase miRNAs that target ETFA

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ETFA

Clone Products

  • Addgene plasmids for ETFA

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
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 ETFA gene
Compartment Confidence
mitochondrion 5
plasma membrane 2
extracellular 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
golgi apparatus 2
cytoskeleton 1
peroxisome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ETFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
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:0022900 electron transport chain IEA --
GO:0022904 respiratory electron transport chain TAS --
GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase IBA,IDA 25416781
GO:0055114 oxidation-reduction process IEA --
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

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  1. Drug

(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

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ETFA Gene

2 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ETFA

Clone Products

  • Addgene plasmids for ETFA

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

Expression for ETFA Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ETFA Gene

mRNA expression in normal human tissues for ETFA Gene
mRNA expression by BioGPS for ETFA GenemRNA expression by GTEx 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, MaxQB, and MOPED for ETFA Gene



Protein tissue co-expression partners for ETFA Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ETFA

SOURCE GeneReport for Unigene cluster for ETFA Gene:

Hs.39925

Evidence on tissue expression from TISSUES for ETFA Gene

  • Liver(4.6)
  • Intestine(4.4)
  • Nervous system(3.7)
  • Muscle(2.7)
  • Kidney(2.6)
  • Heart(2.4)
  • Skin(2.1)
  • Adrenal gland(2)
  • Blood(2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
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 ETFA: view

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
chimpanzee
(Pan troglodytes)
 Mammalia ETFA 31 30
  • 99.4 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia ETFA 31 30
  • 93.49 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia ETFA 31 30
  • 93.39 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Etfa 30
  • 92.19 (n)
mouse
(Mus musculus)
 Mammalia Etfa 17 31 30
  • 91.69 (n)
oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 89 (a)
 OneToMany
-- 31
  • 72 (a)
 OneToMany
platypus
(Ornithorhynchus anatinus)
 Mammalia ETFA 31
  • 79 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ETFA 31 30
  • 78.47 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ETFA 31
  • 85 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia etfa 30
  • 73.27 (n)
Str.3137 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.24246 30
zebrafish
(Danio rerio)
 Actinopterygii etfa 31 30 30
  • 70.58 (n)
 OneToOne
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.9018 30
fruit fly
(Drosophila melanogaster)
 Insecta wal 31 32 30
  • 63.22 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004031 30
  • 59.96 (n)
worm
(Caenorhabditis elegans)
 Secernentea CELE_F27D4.1 30
  • 62.94 (n)
F27D4.1 31
  • 61 (a)
 OneToOne
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0E14037g 30
  • 55.91 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes AIM45 33 31 30
  • 52.06 (n)
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AGL054W 30
  • 50.72 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons ETFALPHA 30
  • 57.69 (n)
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.11363 30
rice
(Oryza sativa)
 Liliopsida Os03g0835400 30
  • 55.42 (n)
Os.14084 30
corn
(Zea mays)
 Liliopsida Zm.9255 30
barley
(Hordeum vulgare)
 Liliopsida Hv.4786 30
wheat
(Triticum aestivum)
 Liliopsida Ta.7134 30
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.8750 31
  • 66 (a)
 OneToOne
Cin.2139 30
bread mold
(Neurospora crassa)
 Ascomycetes NCU08004 30
  • 54.14 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPAC27D7.06 30
  • 52.24 (n)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.2139 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for ETFA: view image

Paralogs for ETFA Gene

(32) SIMAP similar genes for ETFA Gene using alignment to 11 proteins:

  • ETFA_HUMAN
  • H0YK49_HUMAN
  • H0YKF0_HUMAN
  • H0YL12_HUMAN
  • H0YL83_HUMAN
  • H0YLU7_HUMAN
  • H0YM12_HUMAN
  • H0YMU8_HUMAN
  • H0YNX6_HUMAN
  • H3BV91_HUMAN
  • J3KN60_HUMAN
genes like me logo Genes that share paralogs with ETFA: view

No data available for Paralogs for ETFA Gene

Variants for ETFA Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ETFA Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
203689 Uncertain Significance: Glutaric aciduria, type 2 76,311,369(-) G/A MISSENSE_VARIANT
590832 Uncertain Significance: Glutaric aciduria, type 2 76,216,598(-) C/G SPLICE_ACCEPTOR_VARIANT
641837 Uncertain Significance: Glutaric aciduria, type 2 76,286,424(-) C/T MISSENSE_VARIANT
644693 Uncertain Significance: Glutaric aciduria, type 2 76,231,327(-) A/C INTRON_VARIANT
648977 Pathogenic: Glutaric aciduria, type 2 76,285,676(-) GA/G FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for ETFA Gene

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)

Additional Variant Information for ETFA Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ETFA Gene

MalaCards: The human disease database

(19) MalaCards diseases for ETFA Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
multiple acyl-coa dehydrogenase deficiency
  • madd
multiple acyl-coa dehydrogenase deficiency, mild type
  • glutaric aciduria type 2, mild type
multiple acyl-coa dehydrogenase deficiency, severe neonatal type
  • glutaric aciduria type 2, severe neonatal type
acyl-coa dehydrogenase deficiency
sandhoff disease
  • gm2-gangliosidosis, type ii
- 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:12815589, ECO:0000269 PubMed:1430199, ECO:0000269 PubMed:1882842, ECO:0000269 PubMed:9334218}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ETFA Gene

glutaric aciduria IIA,early onset

Additional Disease Information for ETFA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 RK … Gregersen N (Human mutation 2003) 3 4 23 54
  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 (American journal of human genetics 1991) 3 4 23 54
  3. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd BJ … Pagliarini DJ (Molecular cell 2016) 3 4 54
  4. 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 (The pharmacogenomics journal 2013) 3 41 54
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54

ExternalLinks

View latest publications for ETFA gene in Mastermind

Products for ETFA Gene

  • Addgene plasmids for ETFA

Sources for ETFA Gene