ETFB (electron transfer flavoprotein subunit beta)

2018-11-01  

Identity

HGNC
LOCATION
19q13.41
LOCUSID
ALIAS
FP585,MADD
FUSION GENES

Other Information

Locus ID:

NCBI: 2109
MIM: 130410
HGNC: 3482
Ensembl: ENSG00000105379

Variants:

dbSNP: 2109
ClinVar: 2109
TCGA: ENSG00000105379
COSMIC: ETFB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105379ENST00000309244P38117
ENSG00000105379ENST00000354232P38117
ENSG00000105379ENST00000596253M0QY67

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.REACTOMER-HSA-163200
Respiratory electron transportREACTOMER-HSA-611105
Protein methylationREACTOMER-HSA-8876725

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
165103022006Electron transfer flavoprotein deficiency: functional and molecular aspects.24
254167812015Human METTL20 is a mitochondrial lysine methyltransferase that targets the β subunit of electron transfer flavoprotein (ETFβ) and modulates its activity.23
190880742009Role of flavinylation in a mild variant of multiple acyl-CoA dehydrogenation deficiency: a molecular rationale for the effects of riboflavin supplementation.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
225880072012Mechanism of superoxide and hydrogen peroxide generation by human electron-transfer flavoprotein and pathological variants.17
192083932009Clinical and genetic analysis of lipid storage myopathies.14
159759182005Stabilization of non-productive conformations underpins rapid electron transfer to electron-transferring flavoprotein.12
206747452010Mutational hotspots in electron transfer flavoprotein underlie defective folding and function in multiple acyl-CoA dehydrogenase deficiency.8
289137292018Exome array analysis identifies ETFB as a novel susceptibility gene for anthracycline-induced cardiotoxicity in cancer patients.6
230684452012Knockdown of electron transfer flavoprotein β subunit reduced TGF-β-induced α-SMA mRNA expression but not COL1A1 in fibroblast-populated three-dimensional collagen gel cultures.5

Citation

Dessen P

ETFB (electron transfer flavoprotein subunit beta)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57737/etfb