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.	2108
Gene name Gene Name - the full gene name approved by the HGNC.	Electron transfer flavoprotein subunit alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ETFA
Synonyms (NCBI Gene) Gene synonyms aliases	EMA, GA2, MADD
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q24.2-q24.3
Summary Summary of gene provided in NCBI Entrez Gene.	ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in

Show/Hide all(13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs119458969	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs119458970	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs119458971	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs140169311	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs199673198	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs199763682	G>A,C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, stop gained
rs727503918	A>G	Pathogenic-likely-pathogenic, uncertain-significance	Non coding transcript variant, initiator codon variant, missense variant
rs749929239	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs754202690	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant, non coding transcript variant, intron variant
rs769976586	G>A	Pathogenic, uncertain-significance	Non coding transcript variant, stop gained, coding sequence variant
rs1298299792	AC>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1475984278	G>A,C	Likely-pathogenic	Missense variant, stop gained, coding sequence variant, non coding transcript variant
rs1596218695	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

Show/Hide all(15)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052043	hsa-let-7b-5p	CLASH	23622248
MIRT050733	hsa-miR-18a-5p	CLASH	23622248
MIRT050284	hsa-miR-25-3p	CLASH	23622248
MIRT049145	hsa-miR-92a-3p	CLASH	23622248
MIRT971541	hsa-miR-219-5p	CLIP-seq
MIRT971542	hsa-miR-369-3p	CLIP-seq
MIRT971543	hsa-miR-374a	CLIP-seq
MIRT971544	hsa-miR-374b	CLIP-seq
MIRT971545	hsa-miR-4276	CLIP-seq
MIRT971546	hsa-miR-4445	CLIP-seq
MIRT971547	hsa-miR-4677-3p	CLIP-seq
MIRT971548	hsa-miR-4679	CLIP-seq
MIRT971549	hsa-miR-4719	CLIP-seq
MIRT971550	hsa-miR-4782-3p	CLIP-seq
MIRT971551	hsa-miR-508-3p	CLIP-seq

Show/Hide all(23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	24606901, 26618866, 27499296, 28380382, 33961781, 35156780, 36012204
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	3170610
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	10423253, 25416781
GO:0009055	Function	Electron transfer activity	IEA
GO:0009063	Process	Amino acid catabolic process	IDA	25416781
GO:0016491	Function	Oxidoreductase activity	IDA	9334218, 10423253
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:0045251	Component	Electron transfer flavoprotein complex	IEA
GO:0045251	Component	Electron transfer flavoprotein complex	IPI	8962055
GO:0050660	Function	Flavin adenine dinucleotide binding	IBA
GO:0050660	Function	Flavin adenine dinucleotide binding	IDA	9334218, 10423253
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA

MIM	HGNC	e!Ensembl
608053	3481	ENSG00000140374

Protein

UniProt ID

P13804

Protein name

Electron transfer flavoprotein subunit alpha, mitochondrial (Alpha-ETF)

Protein function

Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase (PubMed:10356313, PubMed:15159392, PubMed:15975918, PubMed

PDB

1EFV , 1T9G , 2A1T , 2A1U

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01012	ETF	22 → 197	Electron transfer flavoprotein domain	Domain
PF00766	ETF_alpha	210 → 293	Electron transfer flavoprotein FAD-binding domain	Domain

Sequence

MFRAAAPGQLRRAASLLRFQSTLVIAEHANDSLAPITLNTITAATRLGGEVSCLVAGTKC
DKVAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLL
PRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAATSG
GSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGGRGLKSGENFKLLYDLADQ
LHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKTIVAIN
KDPEAPIFQVADYGIVADLFKVVPEMTEILKKK

Sequence length

333

Interactions

View interactions

	Reactome
			Respiratory electron transport

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
multiple acyl-coa dehydrogenase deficiency	Multiple acyl-CoA dehydrogenase deficiency	rs1596218695, rs754202690, rs1475984278, rs1209473816, rs2039698086, rs119458969, rs1384386872, rs119458970, rs119458971, rs199763682, rs769976586, rs1298299792	N/A

Show/Hide Unknown Diseases (2)

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.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Glioma	Glioma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Atherosclerosis	Associate	38556340
Carcinoma Renal Cell	Stimulate	19364692
Glioma	Associate	36541697
Hypertension	Associate	38556340
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Associate	1430199, 1882842, 19208393, 25200064, 31996215, 32804429, 34573316, 35734957, 39273584, 8962055
Muscular Dystrophies	Associate	24920607
Neoplasms	Associate	27808478

ETFA (electron transfer flavoprotein subunit alpha)