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ETFB Gene

protein-coding   GIFtS: 66
GCID: GC19M051848

Electron-Transfer-Flavoprotein, Beta Polypeptide

  See ETFB-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 glutaric acidemia iib, and glutaric acidemia type ii. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011109.17  
Regulatory elements:
   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 Chromatin IP Primers for ETFB

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • Ubiquitination2 at Lys35
  • Modification sites at PhosphoSitePlus

  • See ETFB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000346173   ENSP00000311930   ENSP00000469628  
    Reactome Protein details: P38117

    ETFB Human Recombinant Protein Products:

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    Novus Biologicals ETFB Lysates
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    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for ETFB
    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for ETFB (15 products) 

     
    antibodies-online peptides for ETFB

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with ETFB           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009055electron carrier activity IEA--
         
    Find genes that share ontologies with ETFB           About GenesLikeMe


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

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ETFB

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    miRTarBase miRNAs that target ETFB:
    hsa-mir-26b-5p (MIRT029280)

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    1 qRT-PCR Assays for microRNA that regulate ETFB:
    hsa-miR-137
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    Sino Biological Human cDNA Clone for ETFB
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ETFB

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ETFB_HUMAN, P38117: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    Find genes that share ontologies with ETFB           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    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 transport0.71
    Respiratory electron transport0.81
    2Metabolism
    Metabolism0.38


    Find genes that share SuperPaths with ETFB           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ETFB
        TNF Signaling
    TRAF Pathway
    TNFR1 Pathway


    1 Reactome Pathway for ETFB
        Respiratory electron transport


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ETFB
    Interactions:

        Search GeneGlobe Interaction Network for ETFB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ETFB (P381172, 3 ENSP000003461734) via UniProtKB, MINT, STRING, and/or I2D (see all 43)
    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:    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--

    Find genes that share ontologies with ETFB           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with ETFB           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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      QuantiTect SYBR Green Assays in human, mouse, rat ETFB
      QuantiFast Probe-based Assays in human, mouse, rat ETFB

    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 

    Selected AceView cDNA sequences (see all 320):

    CN485027 BE384081 CB995363 BU185249 BM830146 BU162212 BU162532 BP431387 
    BM703944 BP338747 BM664099 CR613524 AA385348 AA303692 CB853564 BU731995 
    BQ682561 R55284 BE293571 BF791579 BQ937111 BM699722 F29953 BX280311 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ETFB expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 16) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Neural Tube (Nervous System)
             Floor plate-like cells
     
     Eye (Sensory Organs)
             Lens
    ETFB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ETFB Protein Expression

    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ETFB gene from Selected species (see all 28)    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_026695.31  NP_080971.21 
     434441085 
    lizard
    (Anolis carolinensis)
    Reptilia ETFB6
    electron-transfer-flavoprotein, beta polypeptide
    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_143470.11  NP_651727.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F23C8.53
    CELE_F23C8.51
    electron transfer flavoprotein beta3
    CELE_F23C8.51
    59(a)3
    59.52(n)1
    59.52(a)1
      I(2418488-2420164)3
    1718001  NM_058572.61  NP_490973.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CIR1(YGR207C)4
    CIR11
    Mitochondrial protein that interacts with frataxin more4
    CIR11
    49.87(n)1
    48.79(a)1
      7(911628-910843)4
    8531211, 4  NP_011723.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ETFBETA1 ETFBETA 60.11(n)
    62.3(a)
      834363  NM_123709.3  NP_199156.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g01828001 Os04g0182800 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)
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      --

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ETFB (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
    ----------
    rs1048946771,2,,4
    CGlutaric aciduria 2B (GA2B)4 pathogenic152032439(-) GGAGCA/GGGAGA 4 Q R mis10--------
    VAR_0258044
    Glutaric aciduria 2B (GA2B)4--see VAR_0258042 D N mis40--------
    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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    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

  • 9 diseases for ETFB:    
    About MalaCards
    glutaric acidemia iib    glutaric acidemia type ii    multiple acyl-coa dehydrogenation deficiency, severe neonatal type    multiple acyl-coa dehydrogenation deficiency, mild type
    glutaric acidemia iia    neutral lipid storage disease    glutaric acidemia iic    lipid storage disease
    systemic primary carnitine deficiency disease

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

    Find genes that share disorders with ETFB           About GenesLikeMe

    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

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    PubMed articles for ETFB gene, integrated from 10 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. (Eur. J. Biochem. 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. (Hum. Mol. Genet. 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. (Hum. Mutat. 2003)
    4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    5. Clinical and genetic analysis of lipid storage myopathies. (PubMed id 19208393)1, 4 Ohkuma A....Nishino I. (amp 2009)
    6. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Genome Res. 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. (Mol. Genet. Metab. 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. (Proc. Natl. Acad. Sci. U.S.A. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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

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    Entrez Gene: 2109 HGNC: 3482 AceView: ETFBandMGC33839 Ensembl:ENSG00000105379 euGenes: HUgn2109
    ECgene: ETFB H-InvDB: ETFB

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ETFB Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ETFB[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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