ETFB (electron transfer flavoprotein subunit beta)

Gene

• Entrez ID: 2109
• Gene name: Electron transfer flavoprotein subunit beta
• Gene symbol: ETFB
• Synonyms (NCBI Gene): FP585, MADD
• Chromosome: 19
• Chromosome location: 19q13.41
• 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 u

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894677	C>T	Pathogenic	Coding sequence variant, missense variant
rs104894678	C>T	Pathogenic	Coding sequence variant, missense variant
rs140608276	C>T	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs147353781	G>A	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs548046212	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs766066977	G>A	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs770665020	A>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs796051954	C>T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT971552	hsa-miR-137	CLIP-seq
MIRT971553	hsa-miR-223	CLIP-seq
MIRT971554	hsa-miR-3192	CLIP-seq
MIRT971555	hsa-miR-326	CLIP-seq
MIRT971556	hsa-miR-330-5p	CLIP-seq
MIRT971557	hsa-miR-4314	CLIP-seq
MIRT971558	hsa-miR-4328	CLIP-seq
MIRT971559	hsa-miR-4646-5p	CLIP-seq
MIRT971560	hsa-miR-4659a-5p	CLIP-seq
MIRT971561	hsa-miR-4659b-5p	CLIP-seq
MIRT971562	hsa-miR-4693-3p	CLIP-seq
MIRT971563	hsa-miR-4776-3p	CLIP-seq
MIRT971564	hsa-miR-576-3p	CLIP-seq
MIRT971552	hsa-miR-137	CLIP-seq
MIRT971558	hsa-miR-4328	CLIP-seq
MIRT971560	hsa-miR-4659a-5p	CLIP-seq
MIRT971561	hsa-miR-4659b-5p	CLIP-seq
MIRT971562	hsa-miR-4693-3p	CLIP-seq
MIRT971563	hsa-miR-4776-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	27499296, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IDA	8504797
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	NAS	8504797
GO:0005759	Component	Mitochondrial matrix	TAS	8617498
GO:0009055	Function	Electron transfer activity	IBA
GO:0009055	Function	Electron transfer activity	IDA	25416781
GO:0009055	Function	Electron transfer activity	IEA
GO:0009055	Function	Electron transfer activity	TAS	7912128
GO:0009063	Process	Amino acid catabolic process	IDA	25416781
GO:0022904	Process	Respiratory electron transport chain	IDA	25416781
GO:0033539	Process	Fatty acid beta-oxidation using acyl-CoA dehydrogenase	IBA
GO:0033539	Process	Fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA	25416781
GO:0033539	Process	Fatty acid beta-oxidation using acyl-CoA dehydrogenase	IEA
GO:0045251	Component	Electron transfer flavoprotein complex	IEA
GO:0045251	Component	Electron transfer flavoprotein complex	IPI	8962055

Other IDs

• MIM: 130410
• HGNC: 3482
• e!Ensembl: ENSG00000105379

Protein

• UniProt ID: P38117
• Protein name: Electron transfer flavoprotein subunit beta (Beta-ETF)
• Protein function: Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase (PubMed:15159392, PubMed:15975918, PubMed:25416781). It tr
• PDB: 1EFV, 1T9G, 2A1T, 2A1U
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01012	ETF	27 → 214	Electron transfer flavoprotein domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Abundant in liver, heart and skeletal muscle. A weak expression is seen in the brain, placenta, lung, kidney and pancreas. {ECO:0000269|PubMed:8504797}.
• Sequence:

  MAELRVLVAVKRVIDYAVKIRVKPDRTGVVTDGVKHSMNPFCEIAVEEAVRLKEKKLVKE
  VIAVSCGPAQCQETIRTALAMGADRGIHVEVPPAEAERLGPLQVARVLAKLAEKEKVDLV
  LLGKQAIDDDCNQTGQMTAGFLDWPQGTFASQVTLEGDKLKVEREIDGGLETLRLKLPAV
  VTADLRLNEPRYATLPNIMKAKKKKIEVIKPGDLGVDLTSKLSVISVEDPPQRTAGVKVE
  TTEDLVAKLKEIGRI

• Sequence length: 255

Pathways

Reactome:

Respiratory electron transport
Protein methylation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Glutaric acidemia IIb	Likely pathogenic; Pathogenic	rs104894677, rs2123572141	RCV000018200 RCV000018201	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple acyl-CoA dehydrogenase deficiency	Pathogenic; Likely pathogenic	rs2123587098, rs2123580195, rs2514153018, rs1303961688, rs1173733121, rs2514144323, rs2514152673, rs2514169709, rs2514155556, rs1985903483, rs374288379, rs1190771575, rs2514155370, rs2514156024, rs774387920, rs2514155822, rs2514144368, rs781748603, rs2514149482, rs758137319, rs1193726585, rs104894677, rs2514153129, rs1568466685, rs2514155999, rs766066977, rs187424345	RCV001783209 RCV001947884 RCV002470034 RCV002472164 RCV003064593 RCV002885076 RCV002868020 RCV002976143 RCV003476351 RCV003476352 RCV003476353 RCV003476354 RCV003476355 RCV003476356 RCV003476357 RCV003476358 RCV003476359 RCV003476360 RCV003624634 RCV003624540 RCV003625201 RCV003625798 RCV003857880 RCV001235936 RCV004576401 RCV004576402 RCV004576403 RCV000985168 RCV001244975	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic kidney disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ETFB-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glutaric acidemia IIc	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Behcet Syndrome	Behcet Syndrome	BEFREE	25915519		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	25915519	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39684297	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
GLUTARIC ACIDEMIA IIB	Glutaric acidemia	GENOMICS_ENGLAND_DG	27604308		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GLUTARIC ACIDEMIA IIB	Glutaric acidemia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glutaric Aciduria IIA	Glutaric Aciduria	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Glutaric Aciduria IIB	Glutaric Aciduria	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hepatic periportal necrosis	Hepatic periportal necrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	BEFREE	27840937		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	Pubtator	27840937	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemic coma	Hypoglycemic coma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	27840937	Stimulate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28913729		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	27840937	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Multiple Acyl-CoA Dehydrogenase Deficiency	CLINGEN_DG	12706375, 12815589, 15159392, 16510302, 18289905, 25416781, 27081516, 7912128, 8504797		★☆☆☆☆ Found in Text Mining only
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Multiple Acyl-CoA Dehydrogenase Deficiency	UNIPROT_DG	12815589, 7912128		★☆☆☆☆ Found in Text Mining only
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Multiple Acyl-CoA Dehydrogenase Deficiency	BEFREE	19265687, 22190129, 22231380, 31392824, 31418342		★☆☆☆☆ Found in Text Mining only
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Multiple Acyl-CoA Dehydrogenase Deficiency	GENOMICS_ENGLAND_DG	25929793, 27081516		★☆☆☆☆ Found in Text Mining only
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Multiple Acyl-CoA Dehydrogenase Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Multiple acyl-CoA dehydrogenase deficiency, mild type	Multiple Acyl-CoA Dehydrogenase Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type	Multiple Acyl-CoA Dehydrogenase Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28913729		★☆☆☆☆ Found in Text Mining only
Neutral Lipid Storage Disease with Myopathy	Neutral lipid storage myopathy	BEFREE	19208393		★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal carnitine transport defect	Renal Carnitine Transport Defect	BEFREE	19208393		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triglyceride storage disease with ichthyosis	Triglyceride Storage Disease With Ichthyosis	BEFREE	19208393		★☆☆☆☆ Found in Text Mining only