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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
External Ids for ETFA Gene
- HGNC: 3481
- Entrez Gene: 2108
- Ensembl: ENSG00000140374
- OMIM: 608053
- UniProtKB: P13804
Previous GeneCards Identifiers for ETFA Gene
- GC15M072396
- GC15M069598
- GC15M074084
- GC15M074224
- GC15M074295
- GC15M076508
- GC15M053265
Summaries 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. 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).
Additional gene information for ETFA Gene
- HGNC(3481)
- Entrez Gene(2108)
- Ensembl(ENSG00000140374)
- OMIM(608053)
- UniProtKB(P13804)
- Open Targets Platform(ENSG00000140374)
- Monarch Initiative
- Search for ETFA at DataMed
- Search for ETFA at HumanCyc
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 Pubs
Promoters and enhancers for ETFA Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
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:
-
- 15q24.2-q24.3 by HGNC
- 15q24.2-q24.3 by Entrez Gene
- 15q24.3 by Ensembl
ETFA Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression for ETFA Gene
Post-translational modifications for ETFA Gene
- The N-terminus is blocked.
-
Ubiquitination at Lys85, Lys139, and Lys216
- NX_P13804 (NX_P13804-1)
- Modification sites at PhosphoSitePlus
Other Protein References for ETFA Gene
Antibody Products
- G Biosciences Immunotag™ ETFA Antibody
-
Custom Antibody ServicesOriGene Antibodies for ETFA
- Novus Biologicals Antibodies for ETFA
-
Abcam antibodies for ETFA
- Invitrogen Antibodies for ETFA (AFLGC-ETFA)
-
Boster Bio Antibodies for ETFA
-
Santa Cruz Biotechnology (SCBT) Antibodies for ETFA
Protein Products
-
OriGene Purified Proteins for ETFA
- Search Origene for MassSpec and Protein Over-expression Lysates for ETFA
- Origene Custom Protein Services for ETFA
- antibodies-online: Show 8 available ETFA Proteins ranked by validation data
- Compare Top ETFA Proteins
-
Quality Products:
-
Signalway Proteins for ETFA
Assay Products
- antibodies-online: Show 12 available ETFA Elisa Kits ranked by validation data
- Compare Top ETFA Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for ETFA
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
- InterPro:
- Blocks:
-
- Electron transfer flavoprotein, alpha subunit
- Electron transfer flavoprotein, alpha subunit, C-terminal
- 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
P13804UniProtKB/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.
Function for ETFA Gene
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
| 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 |
Phenotypes for ETFA Gene
- GenomeRNAi human phenotypes for ETFA:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ETFA - Select products 50% OFF >
- * ETFA CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ETFA
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ETFA
-
Santa Cruz Biotechnology (SCBT) CRISPR for ETFA
miRNA for ETFA Gene
- miRTarBase miRNAs that target ETFA
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ETFA
- Browse OriGene Inhibitory RNA Products For ETFA
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ETFA
Clone Products
- Applied Biological Materials (abm): Clones for ETFA - Select products 50% OFF >
- * ETFA as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ETFA
- Addgene plasmids for ETFA
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ETFA
Cell Line Products
-
Horizon Cell Lines 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.
| 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 |
- Mitochondria (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IDA | -- |
| GO:0005759 | mitochondrial matrix | IEA,TAS | -- |
Pathways & Interactions for ETFA Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | ||
| 2 | Metabolism |
.40
|
|
Pathways by source for ETFA Gene
Interacting Proteins for ETFA Gene
Selected Interacting proteins:
P13804-ETFA_HUMAN
ENSP00000452762
for ETFA Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for ETFA
| 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 | -- |
No data available for SIGNOR curated interactions for ETFA Gene
Drugs & Compounds for ETFA Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| FAD | Approved | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for ETFA Gene
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 :
-
- ENST00000267950 1289 nts (view in UCSC)
- ENST00000433983 1346 nts (view in UCSC)
- ENST00000557943 2289 nts (view in UCSC)
- ENST00000557975 1086 nts (view in UCSC)
- ENST00000558803 447 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ETFA - Select products 50% OFF >
- * ETFA CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ETFA
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ETFA
-
Santa Cruz Biotechnology (SCBT) CRISPR for ETFA
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ETFA
- Browse OriGene Inhibitory RNA Products For ETFA
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ETFA
Clone Products
- Applied Biological Materials (abm): Clones for ETFA - Select products 50% OFF >
- * ETFA as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ETFA
- Addgene plasmids for ETFA
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ETFA
| 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
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ETFA
SOURCE GeneReport for Unigene cluster for ETFA Gene:
Hs.39925Evidence on tissue expression from TISSUES for ETFA Gene
- Liver(4.6)
- Intestine(4.6)
- Heart(4.1)
- Nervous system(3.9)
- Muscle(3.2)
- Skin(3.1)
- Kidney(3.1)
- Blood(2.7)
- Spleen(2.6)
- Lung(2.6)
- Adrenal gland(2.6)
- Stomach(2.5)
- Eye(2.4)
- Lymph node(2.3)
- Bone marrow(2.3)
- Thyroid gland(2.2)
- Pancreas(2.2)
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
Primer Products
-
OriGene qPCR primer pairs for ETFA
-
OriGene qPCR primer pairs and template standards for ETFA
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ETFA 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ETFA 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ETFA 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Etfa 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Etfa 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ETFA 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ETFA 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ETFA 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | etfa 30 |
|
||
| Str.3137 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.24246 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | etfa 30 31 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9018 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | wal 30 31 32 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004031 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | CELE_F27D4.1 30 |
|
||
| F27D4.1 31 |
|
OneToOne | |||
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E14037g 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | AIM45 30 31 33 |
|
OneToOne | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AGL054W 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ETFALPHA 30 |
|
||
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.11363 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os03g0835400 30 |
|
||
| Os.14084 30 |
|
||||
| Barley (Hordeum vulgare) |
Liliopsida | Hv.4786 30 |
|
||
| Wheat (Triticum aestivum) |
Liliopsida | Ta.7134 30 |
|
||
| Corn (Zea mays) |
Liliopsida | Zm.9255 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8750 31 |
|
OneToOne | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU08004 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC27D7.06 30 |
|
||
| Sea Vase (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
No data available for Paralogs for ETFA Gene
Variants for ETFA Gene
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 |
|---|---|---|---|---|---|
| 641837 | Uncertain Significance: Multiple acyl-CoA dehydrogenase deficiency | 76,286,424(-) | C/T | MISSENSE_VARIANT | |
| 644693 | Uncertain Significance: Multiple acyl-CoA dehydrogenase deficiency | 76,231,327(-) | A/C | INTRON_VARIANT | |
| 648977 | Pathogenic: Multiple acyl-CoA dehydrogenase deficiency | 76,285,676(-) | GA/G | FRAMESHIFT_VARIANT | |
| 653627 | Uncertain Significance: Multiple acyl-CoA dehydrogenase deficiency | 76,295,696(-) | C/G | MISSENSE_VARIANT,INTRON_VARIANT | |
| 665820 | Uncertain Significance: Multiple acyl-CoA dehydrogenase deficiency | 76,295,714(-) | A/C | MISSENSE_VARIANT,INTRON_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ETFA Gene
Disorders for ETFA Gene
(27) 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 |
|
|
| multiple acyl-coa dehydrogenase deficiency, mild type |
|
|
| multiple acyl-coa dehydrogenase deficiency, severe neonatal type |
|
|
| acyl-coa dehydrogenase deficiency |
|
|
| riboflavin deficiency |
|
|
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
- Open Targets Platform
Publications for ETFA Gene
- 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
- 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
- Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd BJ … Pagliarini DJ (Molecular cell 2016) 3 4
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ExternalLinks
Products for ETFA Gene
- Custom Antibody ServicesOriGene Antibodies for ETFA
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- Invitrogen Antibodies for ETFA (AFLGC-ETFA)
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- antibodies-online: Show 33 available ETFA Antibodies ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for ETFA
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- Boster Bio Antibodies for ETFA
- Browse Boster Bio ELISA Kits
Sources for ETFA Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
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- (151) miR2Disease
- (152) DiseaseEnhancer
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- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
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- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB