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

ETFB Gene

protein-coding   GIFtS: 65
GCID: GC19M051848

Electron-Transfer-Flavoprotein, Beta Polypeptide

  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-Transfer-Flavoprotein, Beta Polypeptide1 2     Electron Transfer Flavoprotein Subunit Beta2
MADD2 5     Electron Transfer Flavoprotein, Beta Polypeptide2
beta-ETF2     Electron-Transferring-Flavoprotein, Beta Polypeptide2
Electron Transfer Flavoprotein Beta Subunit2     Beta-ETF3
Electron Transfer Flavoprotein Beta-Subunit2     

External Ids:    HGNC: 34821   Entrez Gene: 21092   Ensembl: ENSG000001053797   OMIM: 1304105   UniProtKB: P381173   

Export aliases for ETFB gene to outside databases

Previous GC identifers: GC19M052478 GC19M052209 GC19M056524 GC19M056540 GC19M048180


(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 ETFB 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 ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II
glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. (provided by RefSeq,
Jul 2008)

GeneCards Summary for ETFB Gene: 
ETFB (electron-transfer-flavoprotein, beta polypeptide) is a protein-coding gene. Diseases associated with ETFB include glutaricaciduria, type iib, and glutaric acidemia type ii, 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.

UniProtKB/Swiss-Prot: ETFB_HUMAN, P38117
Function: The electron transfer flavoprotein serves as a specific electron acceptor for several dehydrogenases,
including five acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase. It transfers the electrons to
the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase)

Gene Wiki entry for ETFB 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_000019.9  NC_018930.2  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ETFB gene promoter:
         Nkx3-1 v2   Nkx3-1   Nkx3-1 v4   Pax-2   Nkx3-1 v1   Pax-2a   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidETFB promoter sequence
   Search SABiosciences Chromatin IP Primers for ETFB

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


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

Entrez Gene cytogenetic band: 19q13.3   Ensembl cytogenetic band:  19q13.41   HGNC cytogenetic band: 19q13.3-q13.4

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M051848:  view genomic region     (about GC identifiers)

Start:
51,848,409 bp from pter      End:
51,869,672 bp from pter
Size:
21,264 bases      Orientation:
minus 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: ETFB_HUMAN, P38117 (See protein sequence)
Recommended Name: Electron transfer flavoprotein subunit beta  
Size: 255 amino acids; 27844 Da
Cofactor: Binds 1 FAD per dimer
Cofactor: Binds 1 AMP per subunit
Subunit: Heterodimer of an alpha and a beta subunit
Subcellular location: Mitochondrion matrix
4 PDB 3D structures from and Proteopedia for ETFB:
1EFV (3D)        1T9G (3D)        2A1T (3D)        2A1U (3D)    
Secondary accessions: B3KNY2 Q6IBH7 Q71RF6 Q9Y3S7
Alternative splicing: 2 isoforms:  P38117-1   P38117-2   

Explore the universe of human proteins at neXtProt for ETFB: NX_P38117

Explore proteomics data for ETFB at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P38117

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

    ETFB Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001014763.1  NP_001976.1  

    ENSEMBL proteins: 
     ENSP00000346173   ENSP00000311930   ENSP00000469628  
    Reactome Protein details: P38117
    Human Recombinant Protein Products for ETFB: 
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    Novus Biologicals ETFB Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for ETFB
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005759mitochondrial matrix TAS--
    GO:0043231intracellular membrane-bounded organelle IDA--

    ETFB 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
    4 InterPro protein domains:
     IPR000049 ET-Flavoprotein_bsu_CS
     IPR012255 ETF_b
     IPR014729 Rossmann-like_a/b/a_fold
     IPR014730 ETF_a/b_N

    Graphical View of Domain Structure for InterPro Entry P38117

    ProtoNet protein and cluster: P38117

    1 Blocks protein domain: IPB000049 Electron transfer flavoprotein beta-subunit

    UniProtKB/Swiss-Prot: ETFB_HUMAN, P38117
    Similarity: Belongs to the ETF beta-subunit/FixA family


    ETFB 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: ETFB_HUMAN, P38117
    Function: The electron transfer flavoprotein serves as a specific electron acceptor for several dehydrogenases,
    including five acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase. It transfers the electrons to
    the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase)

         Genatlas biochemistry entry for ETFB:
    electron transfer flavoprotein,beta (27kDa)

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009055electron carrier activity IEA--
         
    ETFB for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ETFB:
     Decreased homologous recombina  Decreased nuclei size in G2M 

    Animal Models:
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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 ETFB 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 ETFB
        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



    ETFB for pathways           About GeneDecksing

    Interactions:

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

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/32 Interacting proteins for ETFB (P381172, 3 ENSP000003461734) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ETFAP138042, 3, ENSP000002679504MINT-24939 I2D: score=5 STRING: ENSP00000267950
    PSMD4P550363, ENSP000003578794I2D: score=4 STRING: ENSP00000357879
    ACADMP113103, ENSP000004096124I2D: score=1 STRING: ENSP00000409612
    ETFDHQ161343, ENSP000003035524I2D: score=1 STRING: ENSP00000303552
    FHITP497893, ENSP000003420874I2D: score=1 STRING: ENSP00000342087
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0022904respiratory electron transport chain TAS--
    GO:0044237cellular metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    ETFB 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

    ETFB for compounds           About GeneDecksing

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

    Browse Tocris compounds for ETFB

    1 HMDB Compound for ETFB    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--

    1 Novoseek inferred chemical compound relationship for ETFB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acyl-coa 67.7 3 19265687 (1), 16527485 (1)

    Search CenterWatch for drugs/clinical trials and news about ETFB

    (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 ETFB gene (2 alternative transcripts): 
    NM_001014763.1  NM_001985.2  

    Unigene Cluster for ETFB:

    Electron-transfer-flavoprotein, beta polypeptide
    Hs.348531  [show with all ESTs]
    Unigene Representative Sequence: AL833205
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000354232(uc002pwg.3) ENST00000309244(uc002pwh.3) ENST00000596253
    ENST00000594361 ENST00000593992
    miRNA
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    hsa-miR-137
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    Additional mRNA sequence: 

    AF370381.1 AK055285.1 AK291881.1 AL833205.1 BC093961.1 BC093963.1 CR456827.1 X71129.1 

    9 DOTS entries:

    DT.449759  DT.100820514  DT.100820516  DT.97864795  DT.121461180  DT.97864801  DT.99931562  DT.101984553 
    DT.95212914 

    24/320 AceView cDNA sequences (see all 320):

    CR613524 BQ682561 AA303692 BU175367 AA385348 AW135606 BQ937111 BU185249 
    AI364521 BM830146 AW206356 AU155732 H53248 BX280311 BU162532 BQ027487 
    BP431387 BQ108622 BM664099 CB853564 F29953 CB107527 BM703944 BE293571 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ETFB    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c
    SP1:                    -                       -                           
    SP2:                                            -                           
    SP3:                    -           -           -                           
    SP4:                    -                                                   


    ECgene alternative splicing isoforms for ETFB

    (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

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


    ETFB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/36 selected tissues (see all 36) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 3 entries
             urinary bladder ; urothelial cells   
             visceral organ   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             colon ; peripheral nerve/ganglion   
     
     Epithelium
             esophagus ; squamous epithelial cells   

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

    SOURCE GeneReport for Unigene cluster: Hs.348531

    UniProtKB/Swiss-Prot: ETFB_HUMAN, P38117
    Tissue specificity: Abundant in liver, heart and skeletal muscle. A weak expression is seen in the brain,
    placenta, lung, kidney and pancreas

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ETFB

    (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 ETFB gene from 9/29 species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Etfb1 , 5 electron transferring flavoprotein, beta polypeptide1, 5 87.71(n)1
    92.16(a)1
      7 (28.25 cM)5
    1108261  NM_026695.21  NP_080971.21 
     434441085 
    lizard
    (Anolis carolinensis)
    Reptilia ETFB6
    Uncharacterized protein
    77(a)
    1 ↔ 1
    GL343281.1(1123064-1138592)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC059787.12   -- 79.46(n)    BC059787.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.251142 Danio rerio mRNA similar to electron-transfer-flavoprotein, more 80.11(n)    BC045971.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG78341 , 3 electron carrier3
    CG78341
    70(a)3
    67.99(n)1
    70.12(a)1
      99C13
    435151  NM_170428.11  NP_733307.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F23C8.53
    CELE_F23C8.51
    electron transfer flavoprotein beta3
    Protein F23C8.51
    59(a)3
    59.87(n)1
    60(a)1
      I(2418488-2420164)3
    1718001  NM_058572.51  NP_490973.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CIR1(YGR207C)4
    CIR11
    Mitochondrial protein that interacts with frataxin more4
    Cir1p1
    49.27(n)1
    48.21(a)1
      7(911628-910843)4
    8531211, 4  NP_011723.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ETFBETA1 Electron transfer flavoprotein subunit beta 60.22(n)
    62.55(a)
      834363  NM_123709.3  NP_199156.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g01828001 hypothetical protein 60.85(n)
    61.11(a)
      4335102  NM_001058718.1  NP_001052183.1 


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

    10/773 SNPs in ETFB are shown (see all 773)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0258044
    Glutaric aciduria 2B (GA2B)4--see VAR_0258042 D N mis40--------
    rs1048946771,2,4
    CGlutaric aciduria 2B (GA2B)4 pathogenic152032439(-) GGAGCA/GGGAGA 4 Q R mis10--------
    rs1048946781,2
    Cpathogenic152035812(-) CCATCA/GATGAT 4 N D mis10--------
    rs1134332591,2
    C,F--51849010(+) TATAGG/ACTGAG 2 -- int12Minor allele frequency- A:0.50WA NA 4
    rs1129748741,2
    C,F--51849054(+) GATGCG/CCTGAA 2 -- int13Minor allele frequency- C:0.50NA WA 6
    rs1136295571,2
    C--51849057(+) GCGCTA/GAACCC 2 -- int10--------
    rs1127000511,2
    C,F--51849085(+) GATGCG/CCTGAA 2 -- int12Minor allele frequency- C:0.50NA 4
    rs562381341,2
    C--51849088(+) GCGCTA/GAACCC 2 -- int10--------
    rs1128836891,2
    C,F--51849116(+) GATGCG/CCTGAA 2 -- int12Minor allele frequency- C:0.50NA 4
    rs1119257551,2
    C,F--51849147(+) GATGCG/CCTGAA 2 -- int12Minor allele frequency- C:0.50NA 4

    HapMap Linkage Disequilibrium report for ETFB (51848409 - 51869672 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for ETFB:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2718774CNV Deletion23290073
    esv2718772CNV Deletion23290073
    esv2718771CNV Deletion23290073
    esv2296440CNV Deletion18987734
    esv1441812CNV Deletion17803354
    esv1016811CNV Insertion17803354
    nsv912294CNV Gain21882294


    Human Gene Mutation Database (HGMD): ETFB
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ETFB
    DNA2.0 Custom Variant and Variant Library Synthesis for ETFB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 130410   
    OMIM disorders: 231680  
    UniProtKB/Swiss-Prot: ETFB_HUMAN, P38117
  • Glutaric aciduria 2B (GA2B) [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

  • 7 diseases for ETFB:    About MalaCards
    glutaricaciduria, type iib    glutaric acidemia type ii    neutral lipid storage disease    lipid storage disease
    myopathy    tuberculosis    hepatitis

    2 diseases from the University of Copenhagen DISEASES database for ETFB:
    Systemic primary carnitine deficiency disease     Neutral lipid storage disease

    ETFB for disorders           About GeneDecksing

    Genatlas disease: ETFB
    glutaric aciduria IIB,early onset

    Genetic Association Database (GAD): ETFB
    Human Genome Epidemiology (HuGE) Navigator: ETFB (2 documents)

    Export disorders for ETFB 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 ETFB gene, integrated from 9 sources (see all 36):
    (articles sorted by number of sources associating them with ETFB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning and mitochondrial import of the beta-subunit of the human electron-transfer flavoprotein. (PubMed id 8504797)1, 2, 9 Finocchiaro G.... Didonato S. (1993)
    2. Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II. (PubMed id 7912128)1, 2, 9 Colombo I.... Didonato S. (1994)
    3. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. (PubMed id 12815589)1, 2, 9 Olsen R.K.J....Gregersen N. (2003)
    4. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    5. Clinical and genetic analysis of lipid storage myopathies. (PubMed id 19208393)1, 4 Ohkuma A....Nishino I. (2009)
    6. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. 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)
    9. A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation. (PubMed id 10356313)1, 2 Bross P....Gregersen N. (1999)
    10. Three-dimensional structure of human electron transfer flavoprotein to 2.1-A resolution. (PubMed id 8962055)1, 2 Roberts D.L.... Kim J.-J.P. (1996)

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

      Query String
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    OMIM
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      (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: 2109 HGNC: 3482 AceView: ETFBandMGC33839 Ensembl:ENSG00000105379 euGenes: HUgn2109
    ECgene: ETFB H-InvDB: ETFB

    (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 ETFB Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ETFB

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

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



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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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