Details for: ETFDH

Gene ID: 2110

Symbol: ETFDH

Ensembl ID: ENSG00000171503

Description: electron transfer flavoprotein dehydrogenase

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 2.92
    Marker Score: 65224
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 2.75
    Marker Score: 9779
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.78
    Marker Score: 65499
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.66
    Marker Score: 35447
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.58
    Marker Score: 6553
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.56
    Marker Score: 874
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.54
    Marker Score: 903
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.54
    Marker Score: 14518
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.53
    Marker Score: 58233
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.52
    Marker Score: 15673.5
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.52
    Marker Score: 14420
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.52
    Marker Score: 93261
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.49
    Marker Score: 9565.5
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.49
    Marker Score: 12762
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.48
    Marker Score: 29426
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.48
    Marker Score: 6177
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.47
    Marker Score: 467
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.46
    Marker Score: 2257
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.45
    Marker Score: 11146
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.45
    Marker Score: 5602.5
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.43
    Marker Score: 7685
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.42
    Marker Score: 6147
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.39
    Marker Score: 3055
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.37
    Marker Score: 20477.5
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 1.34
    Marker Score: 1072
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.34
    Marker Score: 5443
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.27
    Marker Score: 1399.5
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.19
    Marker Score: 1477
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.15
    Marker Score: 481
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.08
    Marker Score: 631
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.06
    Marker Score: 1431
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.06
    Marker Score: 921
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.06
    Marker Score: 1222
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.05
    Marker Score: 18610
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.04
    Marker Score: 16265
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.04
    Marker Score: 503
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 1.01
    Marker Score: 318.5
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71694
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47918
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.99
    Marker Score: 260
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.99
    Marker Score: 515
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.99
    Marker Score: 288
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30392
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.98
    Marker Score: 281
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.96
    Marker Score: 326
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.95
    Marker Score: 1364
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2398
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.94
    Marker Score: 493
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.93
    Marker Score: 4318
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 481
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 437
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.92
    Marker Score: 4416
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.92
    Marker Score: 2299
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.9
    Marker Score: 338
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2700
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.9
    Marker Score: 246
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.89
    Marker Score: 359
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 0.88
    Marker Score: 322
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.87
    Marker Score: 597
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5293
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.87
    Marker Score: 303
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.87
    Marker Score: 272
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.86
    Marker Score: 1038
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 307
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.85
    Marker Score: 2284
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.84
    Marker Score: 1990
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.84
    Marker Score: 4802
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.84
    Marker Score: 885
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.84
    Marker Score: 1038
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.83
    Marker Score: 379
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.82
    Marker Score: 7088
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.82
    Marker Score: 1967
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.82
    Marker Score: 881
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.81
    Marker Score: 1040
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.8
    Marker Score: 2526
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.8
    Marker Score: 971
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.8
    Marker Score: 199
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.8
    Marker Score: 1176.5
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.8
    Marker Score: 297
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.79
    Marker Score: 345
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.78
    Marker Score: 739
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.78
    Marker Score: 251
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1264
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.77
    Marker Score: 174
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.77
    Marker Score: 285
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.77
    Marker Score: 824
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.77
    Marker Score: 587
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.76
    Marker Score: 501.5
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.76
    Marker Score: 954
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.75
    Marker Score: 301
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.75
    Marker Score: 1443.5
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.75
    Marker Score: 995
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.73
    Marker Score: 319
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 467
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 375
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.71
    Marker Score: 1447
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.71
    Marker Score: 704.5
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.7
    Marker Score: 1177
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.69
    Marker Score: 2900.5
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.69
    Marker Score: 659

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Other Information

**Key characteristics:** * The ETFDH gene is located on chromosome 19p13.1. * It is a large gene with a molecular weight of approximately 100 kDa. * It contains 14 exons and 13 introns. * The protein encoded by the ETFDH gene is a flavoprotein with a conserved active site that is involved in electron transfer reactions. **Pathways and functions:** * The ETFDH enzyme is involved in several cellular pathways, including the citric acid (TCA) cycle, respiratory electron transport chain, and fatty acid metabolism. * In the TCA cycle, ETFDH is responsible for the transfer of electrons from pyruvate to coenzyme A. * In the respiratory electron transport chain, ETFDH is involved in the transfer of electrons from NADH and FADH2 to oxygen. * In fatty acid metabolism, ETFDH is involved in the oxidation of fatty acids to produce energy. **Clinical significance:** * Mutations in the ETFDH gene have been linked to several human diseases, including heart disease and stroke. * These mutations can disrupt the normal function of ETFDH, leading to the accumulation of reactive oxygen species and the development of cardiovascular disease. * Therefore, ETFDH is a promising target for the prevention and treatment of cardiovascular diseases. **Additional information:** * The ETFDH gene is also known as FLT1. * It is expressed in high levels in cardiac muscle and fat cells. * It is also expressed in neurons in the brain. * Mutations in the ETFDH gene have been linked to a number of human diseases, including: * Cardiovascular disease * Stroke * Diabetes * Obesity * Cancer

Genular Protein ID: 2951055175

Symbol: ETFD_HUMAN

Name: Electron-transferring-flavoprotein dehydrogenase

UniProtKB Accession Codes:

Q16134 B4E3R9 J3KND9 Q7Z347

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChEBI 14 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EC 1 EMBL 5 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 15 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 Rhea 6 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8306995

Title: Molecular cloning and expression of a cDNA encoding human electron transfer flavoprotein-ubiquinone oxidoreductase.

PubMed ID: 8306995

DOI: 10.1111/j.1432-1033.1994.tb19939.x

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12049629

Title: Expression of human electron transfer flavoprotein-ubiquinone oxidoreductase from a baculovirus vector: kinetic and spectral characterization of the human protein.

PubMed ID: 12049629

DOI: 10.1042/bj20020042

PubMed ID: 12815589

Title: Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.

PubMed ID: 12815589

DOI: 10.1002/humu.10226

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 12359134

Title: Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene.

PubMed ID: 12359134

DOI: 10.1016/s1096-7192(02)00138-5

PubMed ID: 16527485

Title: So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager.

PubMed ID: 16527485

DOI: 10.1016/j.nmd.2006.01.001

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 17412732

Title: The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.

PubMed ID: 17412732

DOI: 10.1093/brain/awm054

PubMed ID: 19249206

Title: ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

PubMed ID: 19249206

DOI: 10.1016/j.nmd.2009.01.008

PubMed ID: 20370797

Title: High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.

PubMed ID: 20370797

DOI: 10.1111/j.1399-0004.2010.01421.x

Sequence Information:

  • Length: 617
  • Mass: 68495
  • Checksum: 099EBA36C59AF3D6
  • Sequence:
    • MLVPLAKLSC LAYQCFHALK IKKNYLPLCA TRWSSTSTVP RITTHYTIYP RDKDKRWEGV 
NMERFAEEAD VVIVGAGPAG LSAAVRLKQL AVAHEKDIRV CLVEKAAQIG AHTLSGACLD 
PGAFKELFPD WKEKGAPLNT PVTEDRFGIL TEKYRIPVPI LPGLPMNNHG NYIVRLGHLV 
SWMGEQAEAL GVEVYPGYAA AEVLFHDDGS VKGIATNDVG IQKDGAPKAT FERGLELHAK 
VTIFAEGCHG HLAKQLYKKF DLRANCEPQT YGIGLKELWV IDEKNWKPGR VDHTVGWPLD 
RHTYGGSFLY HLNEGEPLVA LGLVVGLDYQ NPYLSPFREF QRWKHHPSIR PTLEGGKRIA 
YGARALNEGG FQSIPKLTFP GGLLIGCSPG FMNVPKIKGT HTAMKSGILA AESIFNQLTS 
ENLQSKTIGL HVTEYEDNLK NSWVWKELYS VRNIRPSCHG VLGVYGGMIY TGIFYWILRG 
MEPWTLKHKG SDFERLKPAK DCTPIEYPKP DGQISFDLLS SVALSGTNHE HDQPAHLTLR 
DDSIPVNRNL SIYDGPEQRF CPAGVYEFVP VEQGDGFRLQ INAQNCVHCK TCDIKDPSQN 
INWVVPEGGG GPAYNGM

Genular Protein ID: 515166238

Symbol: B4DEQ0_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DEQ0

Database IDs:

ARBA 12 Bgee 1 BioGRID-ORCS 1 CTD 1 ChEBI 7 DNASU 1 EC 1 EMBL 3 EPD 1 Ensembl 4 GO 4 Gene3D 3 GeneTree 1 GenomeRNAi 1 HGNC 1 InterPro 5 KEGG 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 2 Pfam 3 Proteomes 2 RefSeq 3 Rhea 5 RuleBase 1 SUPFAM 3

Citations:

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

Sequence Information:

  • Length: 556
  • Mass: 61385
  • Checksum: 837630BC794D78FB
  • Sequence:
    • MERFAEEADV VIVGAGPAGL SAAVRLKQLA VAHEKDIRVC LVEKAAQIGA HTLSGACLDP 
GAFKELFPDW KEKGAPLNTP VTEDRFGILT EKYRIPVPIL PGLPMNNHGN YIVRLGHLVS 
WMGEQAEALG VEVYPGYAAA EVLFHDDGSV KGIATNDVGI QKDGAPKATF ERGLELHAKV 
TIFAEGCHGH LAKQLYKKFD LRANCEPQTY GIGLKELWVI DEKNWKPGRV DHTVGWPLDR 
HTYGGSFLYH LNEGEPLVAL GLVVGLDYQN PYLSPFREFQ RWKHHPSIRP TLEGGKRIAY 
GARALNEGGF QSIPKLTFPG GLLIGCSPGF MNVPKIKGTH TAMKSGILAA ESIFNQLTSE 
NLQSKTIGLH VTEYEDNLKN SWVWKELYSV RNIRPSCHGV LGVYGGMIYT GIFYWILRGM 
EPWTLKHKGS DFERLKPAKD CTPIEYPKPD GQISFDLLSS VALSGTNHEH DQPAHLTLRD 
DSIPVNRNLS IYDGPEQRFC PAGVYEFVPV EQGDGFRLQI NAQNCVHCKT CDIKDPSQNI 
NWVVPEGGGG PAYNGM

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.