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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ETFDH Gene

protein-coding   GIFtS: 67
GCID: GC04P159593

Electron-Transferring-Flavoprotein Dehydrogenase

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Electron-Transferring-Flavoprotein Dehydrogenase1 2 3     EC 1.5.5.13 8
ETF-QO2 3     MADD2 5
ETF Dehydrogenase2 3     ETFQO2
ETF-Ubiquinone Oxidoreductase2 3     Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase, Mitochondrial2

External Ids:    HGNC: 34831   Entrez Gene: 21102   Ensembl: ENSG000001715037   OMIM: 2316755   UniProtKB: Q161343   

Export aliases for ETFDH gene to outside databases

Previous GC identifers: GC04P160443 GC04P160022 GC04P160171 GC04P160145 GC04P159951 GC04P159812 GC04P155343


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ETFDH 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 glutaric acidemia. Alternatively spliced transcript variants that encode
distinct isoforms have been observed. (provided by RefSeq, Aug 2013)

GeneCards Summary for ETFDH Gene: 
ETFDH (electron-transferring-flavoprotein dehydrogenase) is a protein-coding gene. Diseases associated with ETFDH include glutaric acidemia type ii, and glutaricaciduria, type iic, and among its related super-pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolic pathways. GO annotations related to this gene include electron carrier activity and flavin adenine dinucleotide binding.

UniProtKB/Swiss-Prot: ETFD_HUMAN, Q16134
Function: Accepts electrons from ETF and reduces ubiquinone

Gene Wiki entry for ETFDH Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_016354.19  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ETFDH gene promoter:
         Nkx3-1   Nkx3-1 v4   SREBP-1c   Nkx3-1 v1   Gfi-1   GATA-2   SREBP-1b   Nkx3-1 v2   SREBP-1a   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidETFDH promoter sequence
   Search SABiosciences Chromatin IP Primers for ETFDH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ETFDH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q32-q35   Ensembl cytogenetic band:  4q32.1   HGNC cytogenetic band: 4q32-q35

ETFDH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ETFDH gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P159593:  view genomic region     (about GC identifiers)

Start:
159,593,277 bp from pter      End:
159,630,775 bp from pter
Size:
37,499 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ETFD_HUMAN, Q16134 (See protein sequence)
Recommended Name: Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial precursor  
Size: 617 amino acids; 68495 Da
Cofactor: Binds 1 4Fe-4S cluster
Cofactor: FAD
Subunit: Monomer
Subcellular location: Mitochondrion inner membrane
Sequence caution: Sequence=CAD98030.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;
Secondary accessions: Q7Z347

Explore the universe of human proteins at neXtProt for ETFDH: NX_Q16134

Explore proteomics data for ETFDH at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q16134

  • 4/21 DME Specific Peptides for ETFDH (Q16134) (see all 21)
     HTAMKSG  VRNIRPS  TIFAEGC  SIFNQLT 

    ETFDH Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ETFDH Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001268666.1  NP_001268667.1  NP_004444.2  

    ENSEMBL proteins: 
     ENSP00000425661   ENSP00000426638   ENSP00000422735   ENSP00000303552  
    Reactome Protein details: Q16134
    Human Recombinant Protein Products for ETFDH: 
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    Cloud-Clone Corp. Proteins for ETFDH 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane ----
    GO:0005759mitochondrial matrix TAS--
    GO:0031305integral to mitochondrial inner membrane IDA8306995
    GO:0031966mitochondrial membrane IDA12049629

    ETFDH for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR007859 ETFD_OxRdtase
     IPR000103 Pyridine_nuc-diS_OxRdtase_2
     IPR017896 4Fe4S_Fe-S-bd

    Graphical View of Domain Structure for InterPro Entry Q16134

    ProtoNet protein and cluster: Q16134

    1 Blocks protein domain: IPB007859 Electron transfer flavoprotein-ubiquinone oxidoreductase

    UniProtKB/Swiss-Prot: ETFD_HUMAN, Q16134
    Similarity: Belongs to the ETF-QO/FixC family
    Similarity: Contains 1 4Fe-4S ferredoxin-type domain


    ETFDH for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ETFD_HUMAN, Q16134
    Function: Accepts electrons from ETF and reduces ubiquinone
    Catalytic activity: Reduced electron-transferring flavoprotein + ubiquinone = electron-transferring flavoprotein +
    ubiquinol

         Genatlas biochemistry entry for ETFDH:
    electron transfer flavoprotein-ubiquinone reductase,inner mitochondrial membrane,oxidative phosphorylation
    (OXPHOS)

         Enzyme Number (IUBMB): EC 1.5.5.11 2

         Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004174electron-transferring-flavoprotein dehydrogenase activity IDA12049629
    GO:0009055electron carrier activity IDA12049629
    GO:0016491oxidoreductase activity IDA14640977
    GO:0043783oxidoreductase activity, oxidizing metal ions with flavin as acceptor ISS--
    GO:0046872metal ion binding IEA--
         
    ETFDH for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ETFDH:
     Decreased POU5F1-GFP protein e 

    Animal Models:
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ETFDH About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.0.81
    The citric acid (TCA) cycle and respiratory electron transport0.72
    Respiratory electron transport0.81
    2Metabolism
    Metabolism0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    4        Reactome Pathways for ETFDH
        Respiratory electron transport
    Metabolism
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport



    ETFDH for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ETFDH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/24 Interacting proteins for ETFDH (Q161343 ENSP000003035524) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPD1P108093, ENSP000003400194I2D: score=2 STRING: ENSP00000340019
    ETFAP138043, ENSP000002679504I2D: score=1 STRING: ENSP00000267950
    ETFBP381173, ENSP000003461734I2D: score=1 STRING: ENSP00000346173
    PUS7Q96PZ03, ENSP000003487224I2D: score=4 STRING: ENSP00000348722
    AHCYP235263I2D: score=1 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006979response to oxidative stress ISS--
    GO:0022900electron transport chain IDA12049629
    GO:0022904respiratory electron transport chain TAS--
    GO:0033539fatty acid beta-oxidation using acyl-CoA dehydrogenase IMP17412732
    GO:0044237cellular metabolic process TAS--

    ETFDH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ETFDH for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ETFDH (ETFD)

    6 HMDB Compounds for ETFDH    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    IronArmco iron (see all 19)7439-89-6--
    QH2CoQH2 (see all 5)56275-39-9--
    SulfideSulfide (see all 4)18496-25-8--
    Ubiquinone Q1Coenzyme Q (see all 9)727-81-1--
    Ubiquinone Q22-(3,7-dimethyl-2,6-octadienyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione (see all 7)606-06-4--

    1 DrugBank Compound for ETFDH    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol-- --target--10592235

    10/15 Novoseek inferred chemical compound relationships for ETFDH gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acyl-coa 88.4 23 19249206 (2), 19265687 (2), 19774399 (1), 17050691 (1) (see all 16)
    flavin semiquinone 86.3 1 17050691 (1)
    ubiquinone 83.1 34 14640977 (5), 17050691 (4), 1332770 (2), 7757062 (2) (see all 14)
    flavin 75.4 5 17050691 (1), 17689999 (1), 10423253 (1), 20505899 (1)
    riboflavin 74 8 19265687 (3), 19249206 (2), 17689999 (1)
    semiquinone 70.7 4 9100014 (1), 10423253 (1), 9334218 (1)
    sarcosine 68.8 1 7798224 (1)
    iron-sulfur 62.4 6 16248429 (2), 1332770 (1), 8306995 (1), 17050691 (1)
    coq10 61.6 3 17412732 (1), 19249206 (1)
    hydroquinone 38.1 1 10423253 (1)

    Search CenterWatch for drugs/clinical trials and news about ETFDH / ETFD

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ETFDH gene (3 alternative transcripts): 
    NM_001281737.1  NM_001281738.1  NM_004453.3  

    Unigene Cluster for ETFDH:

    Electron-transferring-flavoprotein dehydrogenase
    Hs.155729  [show with all ESTs]
    Unigene Representative Sequence: NM_004453
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000512251 ENST00000511912(uc003iqb.3 uc011cjg.2 uc010iqr.3 uc011cjh.2 uc010iqs.3)
    ENST00000507475 ENST00000510353(uc010iqq.3) ENST00000436096 ENST00000307738
    ENST00000506422 ENST00000514148
    miRNA
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    Additional mRNA sequence: 

    AK293737.1 AK304838.1 AK311435.1 AK314803.1 BC011890.1 BX538129.1 EU093082.1 EU093083.1 
    S69232.1 

    12 DOTS entries:

    DT.209671  DT.95207471  DT.100677304  DT.101963869  DT.95365454  DT.91746328  DT.101978508  DT.100696021 
    DT.121229977  DT.92021646  DT.92427401  DT.75186914 

    24/96 AceView cDNA sequences (see all 96):

    CR595253 BM905640 CA389559 BQ549601 BX957055 BU663211 CR594853 AL551954 
    BU192297 CR597977 CA942388 BX957199 BX501085 CA389560 BX365655 AV746373 
    S69232 CA867090 BX494332 CF780833 BI677354 BX507252 BG576834 BC011890 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ETFDH (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^
    SP1:                          -     -                 -     -     -                             -                                                               
    SP2:                                                  -     -     -           -     -           -                                                               
    SP3:                          -     -     -     -     -     -     -     -     -     -           -                                                               
    SP4:                                                                                            -                                                               
    SP5:                          -     -                       -     -                                                                                             

    ExUns: 15
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for ETFDH

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ETFDH expression in normal human tissues (normalized intensities)      ETFDH embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGATATTAAA
    ETFDH Expression
    About this image


    ETFDH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/19 selected tissues (see all 19) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart muscle ; myocytes   
             heart/ventricle   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Blood (Respiratory System)    fully expand to see all 2 entries
             lung ; macrophages   
             mouse/organ system/cardiovascular system   
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Islets of Langerhans
             pancreas ; exocrine glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             rectum ; glandular cells   

    See ETFDH Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ETFDH

    SOURCE GeneReport for Unigene cluster: Hs.155729
        SABiosciences Expression via Pathway-Focused PCR Array including ETFDH: 
              PPAR Targets in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ETFDH gene from 10/27 species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Etfdh1 , 5 electron transferring flavoprotein, dehydrogenase1, 5 88.64(n)1
    92.53(a)1
      3 (34.91 cM)5
    668411  NM_025794.21  NP_080070.21 
     796037885 
    chicken
    (Gallus gallus)
    Aves ETFDH1 electron-transferring-flavoprotein dehydrogenase 78.95(n)
    86.64(a)
      428724  NM_001031534.1  NP_001026705.1 
    lizard
    (Anolis carolinensis)
    Reptilia ETFDH6
    electron-transferring-flavoprotein dehydrogenase
    76(a)
    1 ↔ 1
    5(128359013-128381843)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.190712 Xenopus laevis transcribed sequence with moderate similarity more 83.43(n)    BI675385.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa05a112 wufa05a11 74.86(n)   334845  CA474423.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG121401 , 3 electron-transferring-flavoprotein
    dehydrogenase3
    CG121401
    66(a)3
    60.95(n)1
    66.55(a)1
      46C43
    360311  NM_136692.11  NP_610536.11 
    worm
    (Caenorhabditis elegans)
    Secernentea let-7211 , 3 YAAS3
    Protein LET-7211
    63(a)3
    62(n)1
    63.75(a)1
      III(6516639-6518668)3
    1759161  NM_066014.51  NP_498415.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CIR2(YOR356W)4
    CIR21
    Putative ortholog of human electron transfer flavoprotein more4
    Cir2p1
    57.58(n)1
    55.23(a)1
      15(1007221-1009116)4
    8545381, 4  NP_015001.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ETFQO1 electron-transferring-flavoprotein dehydrogenase 59.91(n)
    56.1(a)
      818941  NM_129901.3  NP_181868.1 
    rice
    (Oryza sativa)
    Liliopsida Os.157672 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 72.17(n)    NM_197352.1 


    ENSEMBL Gene Tree for ETFDH (if available)
    TreeFam Gene Tree for ETFDH (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/802 SNPs in ETFDH are shown (see all 802)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0361344
    A colorectal cancer sample4--see VAR_0361342 V L mis40--------
    rs1219649541,2
    Cpathogenic1159396082(+) CTGCAA/GCTGTT 2 T A mis10--------
    rs1509106761,2
    C--155371529(+) TTGAC-/AGGAGATG 1 -- int10--------
    rs1420894381,2
    --159383987(+) TCATGC/TGCCAC 1 -- us2k10--------
    rs1148882181,2
    C,F--159384213(+) TAAGCG/ACCAGA 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs623511971,2
    C,F--159384417(+) CAAACG/ATTTTC 1 -- us2k12Minor allele frequency- A:0.02NA 122
    rs2017266981,2
    --159384546(+) TCCTT-/AAAAAA 1 -- us2k10--------
    rs1885736711,2
    --159384608(+) CTGCAA/GGAAAG 1 -- us2k10--------
    rs1473339591,2
    C--159384634(+) CTCCC-/AGAAGGTT 1 -- cds10--------
    rs1813178441,2
    --159384703(+) CTGTCC/TTCTCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ETFDH (159593277 - 159630775 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ETFDH:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv830125CNV Gain17160897


    Human Gene Mutation Database (HGMD): ETFDH
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 231675   
    OMIM disorders: 231680  
    UniProtKB/Swiss-Prot: ETFD_HUMAN, Q16134
  • Glutaric aciduria 2C (GA2C) [MIM:231680]: An autosomal recessively inherited disorder of fatty acid,
    amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting
    in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric,
    2-methyl-butyric, and isovaleric acids. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 13 diseases for ETFDH:    About MalaCards
    glutaric acidemia type ii    glutaricaciduria, type iic    isobutyryl-coa dehydrogenase deficiency    neutral lipid storage disease
    reye syndrome    lipid storage disease    metabolic disorders    developmental disabilities
    ichthyosis    hypoglycemia    myopathy    mental retardation
    hepatitis

    3 diseases from the University of Copenhagen DISEASES database for ETFDH:
    Systemic primary carnitine deficiency disease     Neutral lipid storage disease     Myopathy

    ETFDH for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for ETFDH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ga ii 95.2 6 2000260 (1), 15669683 (1), 15662686 (1), 12815589 (1)
    metabolic disorder 69.2 13 19774399 (1), 8617498 (1), 17050691 (1), 17412732 (1) (see all 9)
    myopathy 48 3 19758981 (2), 15669683 (1)
    hypoglycemia 40.6 3 8617498 (1), 17977044 (1)
    acidosis 23.7 1 8617498 (1)

    Genatlas disease: ETFDH
    glutaric acidemia,type II

    Genetic Association Database (GAD): ETFDH
    Human Genome Epidemiology (HuGE) Navigator: ETFDH (4 documents)

    Export disorders for ETFDH gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ETFDH gene, integrated from 9 sources (see all 68):
    (articles sorted by number of sources associating them with ETFDH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and expression of a cDNA encoding human electron transfer flavoprotein-ubiquinone oxidoreductase. (PubMed id 8306995)1, 2, 9 Goodman S.I....Frerman F.E. (1994)
    2. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    3. High frequency of ETFDH c.250G>A mutation in Taiwa nese patients with late-onset lipid storage myopathy. (PubMed id 20370797)1, 4 Lan M.Y....Chen S.S. (2010)
    4. A genome-wide perspective of genetic variation in hum an metabolism. (PubMed id 20037589)1, 4 Illig T....Suhre K. (2010)
    5. Clinical and genetic analysis of lipid storage myopathies. (PubMed id 19208393)1, 4 Ohkuma A....Nishino I. (2009)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Novel mutations in ETFDH gene in Chinese patients wit h riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. (PubMed id 19265687)1, 9 Law L.K....Lam C.W. (2009)
    8. High resolution melting analysis facilitates mutation screening of ETFDH gene: applications in riboflavin-responsive multiple acyl-C oA dehydrogenase deficiency. (PubMed id 20138856)1, 9 Er T.K....Jong Y.J. (2010)
    9. Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool. (PubMed id 17050691)1, 9 Zhang J....Kim J.J. (2006)
    10. Alternative quinone substrates and inhibitors of human electron-transfer flavoprotein-ubiquinone oxidoreductase. (PubMed id 14640977)1, 9 Simkovic M. and Frerman F.E. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2110 HGNC: 3483 AceView: ETFDH Ensembl:ENSG00000171503 euGenes: HUgn2110
    ECgene: ETFDH H-InvDB: ETFDH

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ETFDH Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ETFDH

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ETFDH gene:
    Search GeneIP for patents involving ETFDH

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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