Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2109
Gene name	Electron transfer flavoprotein subunit beta
Gene symbol	ETFB
Synonyms (NCBI Gene)	FP585MADD
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

Show/Hide all (8)

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

Show/Hide all (19)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all (20)

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

MIM	HGNC	e!Ensembl
130410	3482	ENSG00000105379

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

Interactions

View interactions

	Reactome
			Respiratory electron transport Protein methylation

313

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Glutaric acidemia IIb	Likely pathogenic; Pathogenic	rs104894677, rs2123572141	RCV000018200 RCV000018201
Multiple acyl-CoA dehydrogenase deficiency	Pathogenic; Likely pathogenic	rs2123587098, rs2123580195, rs2514153018, rs1303961688, rs1173733121, rs2514144323, rs2514152673, rs2514169709, rs2514155556, rs1985903483, rs374288379, rs1190771575, rs2514155370, rs2514156024, rs774387920 View all (12 more)	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

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs1862495	RCV005890782
Cervical cancer	Benign	rs1862495	RCV005890784
Chronic kidney disease	Conflicting classifications of pathogenicity	rs147353781	RCV001171332
Clear cell carcinoma of kidney	Benign; Uncertain significance	rs1862495, rs754994553	RCV005890785 RCV005930453
Colon adenocarcinoma	Benign	rs1862495	RCV005890781
ETFB-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs1986023015, rs910583174, rs143144671, rs140608276, rs572600030, rs141917423, rs147353781, rs755539437, rs1599837433, rs1405873234, rs2514155507, rs747565560, rs562266125	RCV003416218 RCV003900701 RCV003925233 RCV003925234 RCV003895970 RCV003927723 RCV003907648 RCV003410002 RCV003929300 RCV003944600 RCV003954767 RCV003969783 RCV003920419
Gastric cancer	Benign	rs1862495, rs12981254	RCV005890788 RCV005905649
Glutaric acidemia IIc	Conflicting classifications of pathogenicity	rs758509148	RCV004035727
Hepatocellular carcinoma	Benign	rs1862495	RCV005890783
Lung cancer	Benign	rs1862495	RCV005890791
Malignant tumor of urinary bladder	Benign; Likely benign	rs143144671	RCV005890780
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	rs1862495, rs754994553	RCV005890789 RCV005930454
Sarcoma	Benign	rs1862495	RCV005890787
Uterine carcinosarcoma	Benign	rs1862495, rs12981254	RCV005890790 RCV005905650
Uterine corpus endometrial carcinoma	Benign	rs1862495	RCV005890792
Uveal melanoma	Benign	rs1862495	RCV005890786

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Behcet Syndrome	Associate	25915519
Breast Neoplasms	Associate	39684297
Fever	Associate	19088074
Hydronephrosis	Stimulate	27840937
Kidney Diseases	Stimulate	27840937
Mitochondrial Diseases	Associate	27840937
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Associate	1430199, 19088074, 19208393, 20674745, 25200064, 32804429, 34573316
Virus Diseases	Associate	19088074

ETFB (electron transfer flavoprotein subunit beta)