ETFB - electron transfer flavoprotein subunit beta Gene

Also Known as MADD; FP585

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2109

About ETFB

Cytogenetic location: 19q13.41 Genomic coordinates (GRCh38): 19:51,345,155-51,366,388 (from NCBI)

This gene has 5 transcripts (splice variants), 196 orthologues and is associated with 4 phenotypes. Ubiquitous expression in liver (RPKM 75.6), fat (RPKM 65.8) and 25 other tissues.

Summary

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 Products (2)

mRNA	Protein	Name
NM_001014763.1	NP_001014763.1	electron transfer flavoprotein subunit beta isoform 2
NM_001985.3	NP_001976.1	electron transfer flavoprotein subunit beta isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Referencias	Source
enables electron transfer activity	IDA IDA: Inferred from direct assay	25416781	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	27499296	GOA

Biological Process GO Annotation	Evidence	Referencias	Source
involved in amino acid catabolic process	IDA IDA: Inferred from direct assay	25416781	GOA
involved in fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA IDA: Inferred from direct assay	25416781	GOA
involved in respiratory electron transport chain	IDA IDA: Inferred from direct assay	25416781	GOA

Cellular Component GO Annotation	Evidence	Referencias	Source
part of electron transfer flavoprotein complex	IPI IPI: Inferred from physical interaction	8962055	GOA
located in mitochondrial matrix	IDA IDA: Inferred from direct assay	8504797	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ETFB Protein Structure

ETF

0
100
200
255 a.a.

Protein Preferred Names	Protein Names
electron transfer flavoprotein subunit beta	beta-ETF

ETFB Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
Intra	ETFB	P38117	ETFA	Homo sapiens	P13804	X-Ray Diffraction	8962055
Intra	ETFB	P38117	ETFA	Homo sapiens	P13804	Anti Tag CoIP	33961781
Intra	ETFB	P38117	ETFRF1	Homo sapiens	Q6IPR1	Anti Tag CoIP	27499296

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Multiple Acyl-Coa Dehydrogenase Deficiency	MADD Ethylmalonic-Adipicaciduria Ema Glutaric Acidemia Iia Glutaric Acidemia Iib Ga Ii Glutaric Acidemia Iic Glutaric Acidemia Type 2 Glutaric Acidemia Ii Glutaric Aciduria Ii Electron Transfer Flavoprotein Deficiency Glutaric Aciduria Type 2 Mad Deficiency Glutaric Acidemia Type Ii Glutaric Aciduria 2 Etfa Deficiency Etfb Deficiency Etfdh Deficiency Multiple Acyl Coenzyme A Dehydrogenase Deficiency Ga2 Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency Electron Transfer Flavoprotein Dehydrogenase Deficiency Ga 2 Glutaric Acidemia 2 Glutaric Acidemia, Type 2 Glutaric Aciduria, Type 2 Mad Multiple Fad Dehydrogenase Deficiency Ethylmalonic Adipic Aciduria Glutaricaciduria Ii Glutaric Aciduria 2a GA2A Gaiia Glutaricaciduria Iia Glutaric Aciduria 2b GA2B Gaiib Glutaricaciduria Iib Glutaric Aciduria 2c GA2C Gaiic Glutaricaciduria Iic Glutaricaciduria, Type Iia Glutaric Acidemia Type 2a Glutaric Acidemia Type 2c Glutaric Aciduria Iia Glutaric Aciduria Iib Glutaric Aciduria Iic
Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type	Glutaric Aciduria Type 2, Mild Type Mad Deficiency, Mild Type Madd, Mild Type
Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type	Glutaric Aciduria Type 2, Severe Neonatal Type Mad Deficiency, Severe Neonatal Type Madd, Severe Neonatal Type
Fazio-Londe Disease	Fazio-Londe Syndrome Riboflavin Transporter Deficiency Neuronopathy Brown-Vialetto-Van Laere Syndrome Progressive Bulbar Palsy Of Childhood Bulbar Palsy, Progressive, Of Childhood Bvvls Pontobulbar Palsy With Deafness Progressive Bulbar Palsy With Sensorineural Deafness Riboflavin Transporter Deficiency FALOND Bulbar Palsy Progressive Of Childhood Bulbar Palsy Of Childhood, Progressive
Hydronephrosis	Stricture Of Ureteropelvic Junction With Hydronephrosis Hydronephrosis With Ureteral Stricture, Not Elsewhere Classified
Progressive Bulbar Palsy	Bulbar Palsy, Progressive Progressive Bulbar Atrophy Bulbar Palsy Pbp - [Progressive Bulbar Palsy] Progressive Bulbar Paralysis Bulbar Paralysis Chronic Bulbar Palsy Chronic Bulbar Paralysis Supranuclear Bulbar Paralysis
Carnitine Deficiency, Systemic Primary	Carnitine Uptake Defect Renal Carnitine Transport Defect Systemic Primary Carnitine Deficiency CDSP Systemic Carnitine Deficiency Carnitine Transporter Deficiency Cud Primary Carnitine Deficiency Carnitine Uptake Deficiency Carnitine Deficiency, Systemic, Due To Defect In Renal Reabsorption Of Carnitine Carnitine Deficiency, Primary Systemic Primary Carnitine Deficiency Disease Deficiency Of Plasma-Membrane Carnitine Transporter Scd Carnitine Transporter, Plasma-Membrane, Deficiency Of Carnitine Transport Defect Carnitine Plasma-Membrane Transporter Deficiency Carnitine Transporter Defect Spcd
Mitochondrial Trifunctional Protein Deficiency	Tfp Deficiency MTPD Trifunctional Protein Deficiency Trifunctional Protein Deficiency With Myopathy And Neuropathy Tfpd Familial Hypertrophic Cardiomyopathy Cardiomyopathy Familial Hypertrophic Familial Hcm Heritable Hypertrophic Cardiomyopathy Mtp Deficiency Tpa Deficiency Trifunctional Protein Deficiency, Type 2 Abetalipoproteinemia
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Mcad Deficiency Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency Acadm Deficiency Acyl-Coa Dehydrogenase, Medium Chain, Deficiency Of Medium Chain Acyl-Coa Dehydrogenase Deficiency ACADMD Mcadh Deficiency Mcadd Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency Acyl-Coa Dehydrogenase Medium-Chain Deficiency Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Medium Chain Acyl Dehydrogenase Deficiency
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Vlcad Deficiency Very Long Chain Acyl-Coa Dehydrogenase Deficiency Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Lcad Deficiency Very Long-Chain Acyl-Coa Dehydrogenase Deficiency Long Chain Acyl-Coa Dehydrogenase Deficiency ACADVLD Acadl Deficiency Vlcadd Long-Chain Acyl-Coa Dehydrogenase Deficiency Acadvl Acyl-Coa Dehydrogenase Very Long Chain Deficiency Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency Vlcad-C Vlcad-H Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency Of Acyl-Coa Dehydrogenase Very Long-Chain Deficiency Acyl-Coa Dehydrogenase Long-Chain Deficiency Deficiency, Very Long Chain Acyl-Coa Dehydrogenase Long Chain/Very Long Chain Acyl Coa Dehydrogenase Deficiency
Riboflavin Deficiency	Ariboflavinosis Maternal Riboflavin Deficiency RBFVD Vitamin B2 Deficiency Hyporiboflavinosis
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Carnitine Palmitoyltransferase Ii Deficiency Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset Carnitine Palmitoyltransferase Ii Deficiency With Hypoketotic Hypoglycemia Carnitine Palmitoyltransferase Ii Deficiency, Hepatocardiomuscular Cpt Ii Deficiency, Hepatic Cpt2 Deficiency, Infantile Cpt Ii Deficiency, Infantile Cpt Ii Deficiency Carnitine Palmitoyltransferase 2 Deficiency Cpt2 Carnitine Palmitoyltransferase Deficiency Type 2 Carnitine Palmitoyl Transferase 2 Deficiency Cpt-Ii Infantile Carnitine Palmitoyltransferase Ii Deficiency Late-Onset Carnitine Palmitoyltransferase Ii Deficiency Lethal Neonatal Carnitine Palmitoyltransferase Ii Deficiency Carnitine Palmitoyltransferase Ii Deficiency Cpt2 Deficiency Cptii Cpt2, Hepatocardiomuscular Form Cpt2, Severe Infantile Form Cptii, Hepatocardiomuscular Form Cptii, Severe Infantile Form Carnitine Palmitoyl Transferase Ii Deficiency, Hepatocardiomuscular Form Carnitine Palmitoyl Transferase Deficiency Type 2, Hepatocardiomuscular Form Carnitine Palmitoyl Transferase Deficiency Type 2, Severe Infantile Form Carnitine Palmitoyltransferase 2 Deficiency, Infantile CPT2DI Cpt Deficiency, Hepatic, Type Ii Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Carnitine-Acylcarnitine Translocase Deficiency	Cact Deficiency Carnitine Acylcarnitine Translocase Deficiency CACTD Carnitine-Acylcarnitine Carrier Deficiency
Mitochondrial Complex I Deficiency, Nuclear Type 20	Acyl-Coa Dehydrogenase 9 Deficiency Acad9 Deficiency MC1DN20 Mitochondrial Complex I Deficiency Due To Acad9 Deficiency Nuclear Type Mitochondrial Complex I Deficiency 20 Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of Mitochondrial Complex 1 Deficiency Due To Acad9 Deficiency Deficiency Of Acyl-Coa Dehydrogenase Family Member 9 Acyl-Coa Dehydrogenase Family, Member 9, Deficiency
Brown-Vialetto-Van Laere Syndrome
Nephronophthisis 3	NPHP3 Nph3 Adolescent Nephronophthisis Nephronophthisis, Type 3
Myopathy	Muscular Diseases Myopathies
Isolated Elevated Serum Creatine Phosphokinase Levels	Elevated Serum Cpk Idiopathic Hyperckemia Isolated Hyperckemia Elevated Serum Creatine Phosphokinase H-Ck Idiopathic Persistent Elevation Of Serum Creatine Kinase
Mitochondrial Complex I Deficiency, Nuclear Type 1	Mitochondrial Complex I Deficiency Nadh:Q(1) Oxidoreductase Deficiency MC1DN1 Nadh-Coenzyme Q Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex I Deficiency Isolated Nadh-Coenzyme Q Reductase Deficiency Isolated Nadh-Coq Reductase Deficiency Isolated Nadh-Ubiquinone Reductase Deficiency Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of Nuclear Type Mitochondrial Complex I Deficiency 1 Isolated Complex I Deficiency Complex 1 Mitochondrial Respiratory Chain Deficiency Nadh Coenzyme Q Reductase Deficiency Complex I Mitochondrial Respiratory Chain Deficiency Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I Nadh:Ubiquinone Oxidoreductase Deficiency Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS04556	ETFB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ETFB	VGNC	VGNC:72437
Mus musculus	ETFB	MGD	MGI:106098
Bos taurus	ETFB	VGNC	VGNC:28619
Rattus norvegicus	ETFB	RGD	RGD:1303312
Canis familiaris	ETFB	VGNC	VGNC:53709