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This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
ETFB (Electron Transfer Flavoprotein Subunit Beta) is a Protein Coding gene. Diseases associated with ETFB 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 of proteins. Gene Ontology (GO) annotations related to this gene include electron transfer activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 27499296 |
GO:0009055 | electron transfer activity | IEA,IDA | 25416781 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA,IDA | -- |
GO:0005759 | mitochondrial matrix | IEA,TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | ||
2 | Metabolism of proteins | ||
3 | Metabolism |
.40
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|
4 | Protein methylation |
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 | IDA | 25416781 |
GO:0055114 | oxidation-reduction process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
FAD | Approved | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | · | 6c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||
SP4: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Cow (Bos Taurus) |
Mammalia | ETFB 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ETFB 30 31 |
|
OneToOne | |
Chimpanzee (Pan troglodytes) |
Mammalia | ETFB 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Etfb 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Etfb 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ETFB 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ETFB 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ETFB 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | etfb 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | etfb 30 31 |
|
OneToOne | |
Dr.25114 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5635 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG7834 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004653 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | CELE_F23C8.5 30 |
|
||
F23C8.5 31 32 |
|
OneToOne | |||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E16391g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CIR1 30 31 33 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ETFBETA 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.3021 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os04g0182800 30 |
|
||
Barley (Hordeum vulgare) |
Liliopsida | Hv.3619 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.5881 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8815 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU07733 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC1805.02c 30 |
|
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
847047 | Uncertain Significance: Multiple acyl-CoA dehydrogenase deficiency | 51,345,347(-) |
G/T NM_001985.3(ETFB):c.632C>A (p.Pro211His) |
MISSENSE | |
941181 | Uncertain Significance: Multiple acyl-CoA dehydrogenase deficiency | 51,345,292(-) |
G/T NM_001985.3(ETFB):c.687C>A (p.Asp229Glu) |
MISSENSE | |
969573 | Uncertain Significance: Multiple acyl-CoA dehydrogenase deficiency | 51,354,248(-) |
G/T NM_001985.3(ETFB):c.118C>A (p.Pro40Thr) |
MISSENSE | |
969590 | Pathogenic: Multiple acyl-CoA dehydrogenase deficiency | 51,353,254(-) |
G/A NM_001985.3(ETFB):c.253C>T (p.Arg85Ter) |
NONSENSE | |
rs104894677 | Likely Pathogenic: Multiple acyl-CoA dehydrogenase deficiency; Glutaric acidemia IIB. Glutaric aciduria 2B (GA2B) [MIM:231680] | 51,347,006(-) |
C/Tp.Arg164Gln NM_001985.3(ETFB):c.491G>A (p.Arg164Gln) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1016811 | CNV | insertion | 17803354 |
esv1441812 | CNV | deletion | 17803354 |
esv2296440 | CNV | deletion | 18987734 |
esv2718771 | CNV | deletion | 23290073 |
esv2718772 | CNV | deletion | 23290073 |
esv2718774 | CNV | deletion | 23290073 |
nsv1140251 | OTHER | inversion | 24896259 |
Disorder | Aliases | PubMed IDs |
---|---|---|
multiple acyl-coa dehydrogenase deficiency |
|
|
multiple acyl-coa dehydrogenase deficiency, mild type |
|
|
multiple acyl-coa dehydrogenase deficiency, severe neonatal type |
|
|
fazio-londe disease |
|
|
hydronephrosis |
|
|