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ETFA (electron transfer flavoprotein subunit alpha)
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 nameGene Name - the full gene name approved by the HGNC.
Electron transfer flavoprotein subunit alpha
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ETFA
SynonymsGene synonyms aliases
EMA, GA2, MADD
ChromosomeChromosome number
15
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q24.2-q24.3
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 24606901, 27499296, 28380382
GO:0005739 Component Mitochondrion HDA 20833797
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005739 Component Mitochondrion IDA
GO:0005759 Component Mitochondrial matrix TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Sequence length 333
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    Respiratory electron transport
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Arthritis Degenerative polyarthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 18784066
Glioma Glioma rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499, rs1060500122, rs781647403, rs1060500126, rs1554897889, rs1114167629, rs1114167656, rs587782603, rs1554893824, rs1554900615, rs1564568660, rs786204900, rs762518389, rs1339631701 28346443, 26424050
Glutaric acidemia GLUTARIC ACIDEMIA IIA rs104894677, rs2123572141, rs387907170, rs377656387 27604308
Glutaric aciduria Glutaric Aciduria IIA, Glutaric Aciduria IIB rs121434366, rs121434367, rs121434371, rs121434368, rs121434369, rs121434370, rs952356983, rs121434372, rs121434373, rs398123195, rs147611168, rs142967670, rs786204639, rs755586631, rs139851890, rs777201305, rs786204627, rs766518430, rs768925619, rs150938052, rs786204626, rs776082304, rs786205862, rs786205861, rs141437721, rs372983141, rs199999619, rs149120354, rs869025300, rs869025299, rs752127949, rs878853154, rs878853153, rs878853244, rs1057516939, rs1057516522, rs1006150317, rs1057517088, rs1057516521, rs898043081, rs768836114, rs752334462, rs1057516855, rs1057516715, rs749452002, rs1057516899, rs1057516344, rs761491320, rs1057517410, rs1057517407, rs778153326, rs754002357, rs758503371, rs200639270, rs779315456, rs566417795, rs1131692030, rs761765983, rs781477694, rs775606471, rs754312389, rs1025558859, rs748275416, rs1555749434, rs775103982, rs1555750535, rs745852738, rs1176799813, rs1405935475, rs751583656, rs1230368107, rs1197426645, rs1555749239, rs1555749369, rs758137643, rs1555750542, rs794726972, rs764608975, rs1555751109, rs1555751995, rs1273164833, rs1555749853, rs964724051, rs933624223, rs1555750580, rs752234195, rs1555751089, rs1008834111, rs1260580183, rs1568429137, rs1203022386, rs771924230, rs1568429257, rs1568427678, rs576948027, rs1599618968, rs1599619080, rs772654647, rs1599619180, rs1599616676, rs1970564149, rs776758971, rs1970604182, rs1970608600, rs1173575355, rs1970675055, rs367699815, rs1864390545, rs1257292639, rs1970719648
Unknown
Disease name Disease term dbSNP ID References
Central nervous system neoplasms Central Nervous System Neoplasms 28346443, 26424050
Pulmonary hypoplasia Congenital hypoplasia of lung rs1569032634
Diverticular bleeding Diverticular Bleeding 30177863
Diverticular diseases Diverticular Diseases 30177863

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