• Gene id: 2109

Gene Summary

• Gene Symbol: ETFB   Gene   UCSC   Ensembl
• Aliases: FP585, MADD
• Gene name: electron transfer flavoprotein subunit beta
• Alternate names: electron transfer flavoprotein subunit beta, beta-ETF, electron transfer flavoprotein beta subunit, electron transfer flavoprotein, beta polypeptide, electron-transferring-flavoprotein, beta polypeptide,
• Gene location: 19q13.41 (51366387: 51345154)     Exons: 9     NC_000019.10
• Gene summary(Entrez): 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 u
• OMIM: 130410

Protein Summary

• Protein general information: P38117  
  • Name: Electron transfer flavoprotein subunit beta (Beta ETF)
  • Length: 255  
  • Mass: 27844
  • Tissue specificity: Abundant in liver, heart and skeletal muscle. A weak expression is seen in the brain, placenta, lung, kidney and pancreas. {ECO
• Sequence:

  MAELRVLVAVKRVIDYAVKIRVKPDRTGVVTDGVKHSMNPFCEIAVEEAVRLKEKKLVKEVIAVSCGPAQCQETI
  RTALAMGADRGIHVEVPPAEAERLGPLQVARVLAKLAEKEKVDLVLLGKQAIDDDCNQTGQMTAGFLDWPQGTFA
  SQVTLEGDKLKVEREIDGGLETLRLKLPAVVTADLRLNEPRYATLPNIMKAKKKKIEVIKPGDLGVDLTSKLSVI
  SVEDPPQRTAGVKVETTEDLVAKLKEIGRI

• Structural information:
  • Interpro: IPR000049  IPR014730  IPR012255  IPR033948  IPR014729  
  • Prosite: PS01065
  • CDD: cd01714
  • PDB: 1EFV 1T9G 2A1T 2A1U
  • PDBsum: 1EFV 1T9G 2A1T 2A1U
  • DIP: 6162
  • STRING: ENSP00000346173
• Other Databases: GeneCards:  ETFB  Malacards:  ETFB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009055	electron transfer activity	IBA	molecular function
GO:0033539	fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA	biological process
GO:0009055	electron transfer activity	IDA	molecular function
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0009055	electron transfer activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0009055	electron transfer activity	TAS	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0022904	respiratory electron transport chain	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component

Diseases

Associated diseases	References
Secondary hyperammonemia	KEGG:H01400
Glutaric acidemia	KEGG:H00178
Secondary hyperammonemia	KEGG:H01400
Glutaric acidemia	KEGG:H00178
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq