ETFB Gene

Name	electron-transfer-flavoprotein, beta polypeptide
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Electron transfer flavoprotein β‐subunit (ETFB) is an essential mitochondrial protein that, together with the α‐subunit (ETFA), forms the heterodimeric electron transfer flavoprotein (ETF) complex. This complex functions as a crucial hub in mitochondrial metabolism by accepting electrons from a range of flavin‐dependent dehydrogenases involved in fatty acid β‐oxidation, amino acid catabolism, and related pathways, and then relaying these electrons to the respiratory chain for ATP production."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In addition to its canonical role in electron transfer, ETFB also partakes in specific protein–protein interactions. For instance, ETFB has been shown to interact with mitochondrial proteins such as apoptosis‐inducing factor (AIF) and connexin 43 (Cx43), suggesting a broader role in modulating the mitochondrial redox state and respiratory efficiency."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Moreover, although mutations in ETF-related genes are most frequently found in ETFA or in ETF dehydrogenase (ETFDH), alterations affecting ETFB can contribute to multiple acyl‐CoA dehydrogenation deficiency (MADD), thus underlining its diagnostic importance in these metabolic disorders."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}, {"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Recent functional studies further demonstrate that silencing of both ETFA and ETFB in acute myeloid leukemia cells leads to mitochondrial stress and apoptosis, highlighting a potential therapeutic target in this context."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Finally, disruptions in the stability of ETFB as a result of mutations in interacting proteins emphasize its critical role in maintaining mitochondrial function and systemic metabolic homeostasis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Manuel Schiff, Roseline Froissart, Rikke K J Olsen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Electron transfer flavoprotein deficiency: functional and molecular aspects."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Genet Metab (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ymgme.2006.01.009"}], "href": "https://doi.org/10.1016/j.ymgme.2006.01.009"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16510302"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16510302"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Bárbara J Henriques, Rikke Katrine Jentoft Olsen, Cláudio M Gomes, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Electron transfer flavoprotein and its role in mitochondrial energy metabolism in health and disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gene (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.gene.2021.145407"}], "href": "https://doi.org/10.1016/j.gene.2021.145407"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33450351"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33450351"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Amanda Denuc, Estefanía Núñez, Enrique Calvo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "New protein-protein interactions of mitochondrial connexin 43 in mouse heart."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Mol Med (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/jcmm.12792"}], "href": "https://doi.org/10.1111/jcmm.12792"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26915330"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26915330"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Qi Zhao, Yi Yang, Changlin Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ATP5B and ETFB metabolic markers in children with congenital hydronephrosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Med Rep (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3892/mmr.2016.5914"}], "href": "https://doi.org/10.3892/mmr.2016.5914"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27840937"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27840937"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Mika Caplan, Karli J Wittorf, Kasidy K Weber, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Multi-omics reveals mitochondrial metabolism proteins susceptible for drug discovery in AML."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Leukemia (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41375-022-01518-z"}], "href": "https://doi.org/10.1038/s41375-022-01518-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35177813"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35177813"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Fuying Chen, Cheng Ni, Xiaoxiao Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "S1P defects cause a new entity of cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO Mol Med (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.15252/emmm.202114904"}], "href": "https://doi.org/10.15252/emmm.202114904"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35362222"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35362222"}]}]}]}
Synonyms	FP585
Proteins	ETFB_HUMAN
NCBI Gene ID	2109
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ETFB has 7,448 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 119 datasets.

Click the + buttons to view associations for ETFB from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ETFB Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ETFB gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of ETFB gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of ETFB gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of ETFB gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ETFB gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of ETFB gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ETFB gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ETFB gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ETFB gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of ETFB gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with ETFB protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with ETFB gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ETFB gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ETFB gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of ETFB gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with ETFB gene from the curated ClinVar Gene-Phenotype Associations dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of ETFB gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ETFB protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ETFB protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing ETFB protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing ETFB protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with ETFB protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with ETFB protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of ETFB gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ETFB gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with ETFB gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with ETFB gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by ETFB gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving ETFB gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving ETFB gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with ETFB gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with ETFB gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with ETFB gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with ETFB gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at ETFB gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ETFB gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of ETFB gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing ETFB from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with ETFB gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with ETFB gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.