Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2110
Gene name Gene Name - the full gene name approved by the HGNC.
Electron transfer flavoprotein dehydrogenase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ETFDH
Synonyms (NCBI Gene) Gene synonyms aliases
ETFQO, MADD
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q32.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121964954 G>A Pathogenic Missense variant, coding sequence variant
rs121964955 G>A,C,T Pathogenic Missense variant, coding sequence variant
rs121964956 T>A,C Pathogenic, likely-pathogenic Missense variant, coding sequence variant
rs147219158 G>A Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs199899494 A>T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT628575 hsa-miR-8485 HITS-CLIP 23824327
MIRT628574 hsa-miR-3127-5p HITS-CLIP 23824327
MIRT628575 hsa-miR-8485 HITS-CLIP 23824327
MIRT628574 hsa-miR-3127-5p HITS-CLIP 23824327
MIRT628575 hsa-miR-8485 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004174 Function Electron-transferring-flavoprotein dehydrogenase activity IBA 21873635
GO:0004174 Function Electron-transferring-flavoprotein dehydrogenase activity IDA 8306995, 12049629, 14640977
GO:0004174 Function Electron-transferring-flavoprotein dehydrogenase activity TAS
GO:0005515 Function Protein binding IPI 32296183
GO:0005759 Component Mitochondrial matrix TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
231675 3483 ENSG00000171503
Protein
UniProt ID Q16134
Protein name Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial (ETF-QO) (ETF-ubiquinone oxidoreductase) (EC 1.5.5.1) (Electron-transferring-flavoprotein dehydrogenase) (ETF dehydrogenase)
Protein function Accepts electrons from ETF and reduces ubiquinone.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01946 Thi4 58 121 Family
PF05187 ETF_QO 512 615 Family
Sequence
MLVPLAKLSCLAYQCFHALKIKKNYLPLCATRWSSTSTVPRITTHYTIYPRDKDKRWEGV
NMERFAEEADVVIVGAGPAGLSAAVRLKQLAVAHEKDIRVCLVEKAAQIGAHTLSGACLD
P
GAFKELFPDWKEKGAPLNTPVTEDRFGILTEKYRIPVPILPGLPMNNHGNYIVRLGHLV
SWMGEQAEALGVEVYPGYAAAEVLFHDDGSVKGIATNDVGIQKDGAPKATFERGLELHAK
VTIFAEGCHGHLAKQLYKKFDLRANCEPQTYGIGLKELWVIDEKNWKPGRVDHTVGWPLD
RHTYGGSFLYHLNEGEPLVALGLVVGLDYQNPYLSPFREFQRWKHHPSIRPTLEGGKRIA
YGARALNEGGFQSIPKLTFPGGLLIGCSPGFMNVPKIKGTHTAMKSGILAAESIFNQLTS
ENLQSKTIGLHVTEYEDNLKNSWVWKELYSVRNIRPSCHGVLGVYGGMIYTGIFYWILRG
MEPWTLKHKGSDFERLKPAKDCTPIEYPKPDGQISFDLLSSVALSGTNHEHDQPAHLTLR
DDSIPVNRNLSIYDGPEQRFCPAGVYEFVPVEQGDGFRLQINAQNCVHCKTCDIKDPSQN
INWVVPEGGGGPAYN
GM
Sequence length 617
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Respiratory electron transport
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Glutaric acidemia GLUTARIC ACIDEMIA IIC rs104894677, rs2123572141, rs387907170, rs377656387 24816252, 25655951, 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
Unknown
Disease term Disease name Evidence References Source
Pulmonary hypoplasia Congenital hypoplasia of lung ClinVar
Metabolic diseases Metabolic Diseases 17050691 ClinVar
Multiple Acyl-CoA Dehydrogenase Deficiency multiple acyl-CoA dehydrogenase deficiency GenCC
Associations from Text Mining
Disease Name Relationship Type References
2 Hydroxyglutaricaciduria Associate 31349060
6 pyruvoyl tetrahydropterin synthase deficiency Associate 30626930
Acidosis Associate 34573316
Carnitine Palmitoyltransferase II Deficiency Infantile Associate 34764427
Charcot Marie Tooth Disease Associate 38549004
Cholelithiasis Associate 39366640
Coenzyme Q10 Deficiency Associate 17412732, 19208393
Colorectal Neoplasms Associate 34253750
Death Associate 36064718
Distal myopathy Nonaka type Associate 34440319