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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2109
Gene name Gene Name - the full gene name approved by the HGNC.	Electron transfer flavoprotein subunit beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ETFB
Synonyms (NCBI Gene) Gene synonyms aliases	FP585, MADD
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19q13.41
Summary Summary of gene provided in NCBI Entrez Gene.	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

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

Interactions

View interactions

	Reactome
			Respiratory electron transport Protein methylation

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Glutaric acidemia	glutaric acidemia iib	rs2123572141, rs104894677	N/A
multiple acyl-coa dehydrogenase deficiency	Multiple acyl-CoA dehydrogenase deficiency	rs104894677, rs766066977	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Kidney Disease	Chronic kidney disease	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)