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ETFB (electron transfer flavoprotein subunit beta)
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 nameGene Name - the full gene name approved by the HGNC.
Electron transfer flavoprotein subunit beta
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ETFB
SynonymsGene synonyms aliases
FP585, MADD
ChromosomeChromosome number
19
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.41
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
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
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 27499296
GO:0005739 Component Mitochondrion IDA
GO:0005759 Component Mitochondrial matrix IDA 8504797
GO:0005759 Component Mitochondrial matrix TAS
GO:0009055 Function Electron transfer activity IBA 21873635
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 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
Sequence
Sequence length 255
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
Protein methylation
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Glutaric acidemia GLUTARIC ACIDEMIA IIB 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
Macrocephaly Macrocephaly rs786204854, rs764333096, rs1557739557
Multiple acyl-coa dehydrogenase deficiency Multiple Acyl Coenzyme A Dehydrogenase Deficiency, Multiple acyl-CoA dehydrogenase deficiency, mild type, Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type rs119458969, rs119458970, rs119458971, rs121964953, rs2147483647, rs121964954, rs121964955, rs121964956, rs104894677, rs387907170, rs377656387, rs398124151, rs398124152, rs727503919, rs796051964, rs377686388, rs796051961, rs796051962, rs796051965, rs796051963, rs796051959, rs558005496, rs796051960, rs863224869, rs876661314, rs876661313, rs876661315, rs876661312, rs876661310, rs876661311, rs876661309, rs771466122, rs878853006, rs878853082, rs767795266, rs761669036, rs199763682, rs751821289, rs200920510, rs549150456, rs769976586, rs779896449, rs369711837, rs746598421, rs141407224, rs1298299792, rs1466787789, rs917285990, rs767046886, rs773668457, rs1172887273, rs1561251640, rs767249944, rs1561247874, rs199899494, rs780015493, rs779253471, rs1580422708, rs1580425904, rs1596218695, rs754202690, rs1580415323, rs1475984278, rs766066977, rs199979286, rs371493232, rs1580406119, rs1580423432, rs1469053638, rs1773877563, rs763541530, rs1235904433, rs1774344831, rs1774519872, rs1174882036, rs1774616485, rs1774630121, rs1774633192, rs1209473816, rs1774518252, rs2039698086, rs1384386872 18289905, 12706375, 12815589, 27081516, 7912128, 15159392, 25416781, 8504797, 16510302, 25929793
Unknown
Disease name Disease term dbSNP ID References
Pulmonary hypoplasia Congenital hypoplasia of lung rs1569032634
Fatty liver Fatty Liver, Steatohepatitis
Hepatic periportal necrosis Hepatic periportal necrosis
Hypoglycemia Hypoglycemia

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