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 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(19)
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
Show/Hide all(8)
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 IDs Other 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
130410 3482 ENSG00000105379
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
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
Sequence length 255
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Respiratory electron transport
Protein methylation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal
Disease term Disease name 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
View all (95 more)
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
View all (67 more)		 18289905, 12706375, 12815589, 27081516, 7912128, 15159392, 25416781, 8504797, 16510302, 25929793
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Pulmonary hypoplasia Congenital hypoplasia of lung ClinVar
Multiple Acyl-CoA Dehydrogenase Deficiency multiple acyl-CoA dehydrogenase deficiency GenCC
Show/Hide Text Mining Associations (8)
Associations from Text Mining
Disease Name Relationship Type References
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