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

ETFA Gene

protein-coding   GIFtS: 65
GCID: GC15M076508

Electron-Transfer-Flavoprotein, Alpha 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, Alpha Polypeptide1 2     alpha-ETF2
Glutaric Aciduria II1 2     Electron Transfer Flavoprotein Alpha-Subunit2
GA22 5     Electron Transfer Flavoprotein Subunit Alpha, Mitochondrial2
MADD2 5     Electron Transfer Flavoprotein, Alpha Polypeptide2
EMA2     Alpha-ETF3

External Ids:    HGNC: 34811   Entrez Gene: 21082   Ensembl: ENSG000001403747   OMIM: 6080535   UniProtKB: P138043   

Export aliases for ETFA gene to outside databases

Previous GC identifers: GC15M072396 GC15M069598 GC15M074084 GC15M074224 GC15M074295 GC15M053265


(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 ETFA Gene:
ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles
electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein
ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II
glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric,
lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants
encoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for ETFA Gene: 
ETFA (electron-transfer-flavoprotein, alpha polypeptide) is a protein-coding gene. Diseases associated with ETFA include glutaricaciduria, type iia, 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 and flavin adenine dinucleotide binding.

UniProtKB/Swiss-Prot: ETFA_HUMAN, P13804
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 ETFA 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_000015.9  NC_018926.2  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ETFA gene promoter:
         HTF   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   Tal-1beta   POU2F1   POU2F1a   Cart-1   ITF-2   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidETFA promoter sequence
   Search SABiosciences Chromatin IP Primers for ETFA

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


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

Entrez Gene cytogenetic band: 15q23-q25   Ensembl cytogenetic band:  15q24.3   HGNC cytogenetic band: 15q23-q25

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

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M076508:  view genomic region     (about GC identifiers)

Start:
76,507,696 bp from pter      End:
76,603,813 bp from pter
Size:
96,118 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: ETFA_HUMAN, P13804 (See protein sequence)
Recommended Name: Electron transfer flavoprotein subunit alpha, mitochondrial precursor  
Size: 333 amino acids; 35080 Da
Cofactor: Binds 1 FAD per dimer
Subunit: Heterodimer of an alpha and a beta subunit
Subcellular location: Mitochondrion matrix
4 PDB 3D structures from and Proteopedia for ETFA:
1EFV (3D)        1T9G (3D)        2A1T (3D)        2A1U (3D)    
Secondary accessions: B4DT43 Q53XN3
Alternative splicing: 2 isoforms:  P13804-1   P13804-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ETFA: NX_P13804

Explore proteomics data for ETFA at MOPED 

Post-translational modifications:

  • UniProtKB: The N-terminus is blocked
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P13804

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

    ETFA Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000117.1  NP_001121188.1  

    ENSEMBL proteins: 
     ENSP00000452762   ENSP00000399273   ENSP00000267950   ENSP00000458001   ENSP00000453098  
     ENSP00000452659   ENSP00000454194   ENSP00000453345   ENSP00000453422   ENSP00000452942  
     ENSP00000453017   ENSP00000452777   ENSP00000453753  
    Reactome Protein details: P13804
    Human Recombinant Protein Products for ETFA: 
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    Novus Biologicals ETFA Proteins
    Novus Biologicals ETFA Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion TAS3170610
    GO:0005759mitochondrial matrix TAS--

    ETFA 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
    5 InterPro protein domains:
     IPR001308 ETF_a
     IPR014731 ETF_asu_C
     IPR014729 Rossmann-like_a/b/a_fold
     IPR014730 ETF_a/b_N
     IPR018206 ETF_asu_C_CS

    Graphical View of Domain Structure for InterPro Entry P13804

    ProtoNet protein and cluster: P13804

    2 Blocks protein domains:
    IPB001308 Electron transfer flavoprotein
    IPB014731 Electron transfer flavoprotein


    UniProtKB/Swiss-Prot: ETFA_HUMAN, P13804
    Similarity: Belongs to the ETF alpha-subunit/FixB family


    ETFA 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: ETFA_HUMAN, P13804
    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 ETFA:
    electron transfer flavoprotein,alpha (32kDa),with the unstable variant T171I overreprinted in ACADVL deficient
    patients with mild childhood presentation

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009055electron carrier activity IDA10423253
    GO:0016491oxidoreductase activity IDA10423253
    GO:0050660flavin adenine dinucleotide binding IDA10423253
         
    ETFA for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for ETFA:
     Decreased viability of wild-ty  Increased HPV18 LCR reporter a  Increased homologous recombina 

    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 ETFA 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 ETFA
        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



    ETFA for pathways           About GeneDecksing

    Interactions:

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

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

    5/335 Interacting proteins for ETFA (P138042, 3 ENSP000002679504) via UniProtKB, MINT, STRING, and/or I2D (see all 335)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ETFBP381172, 3, ENSP000003461734MINT-24939 I2D: score=5 STRING: ENSP00000346173
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    SARS2Q9NP812, 3, ENSP000002214314MINT-8079030 I2D: score=5 STRING: ENSP00000221431
    C12orf44Q9BSB43, ENSP000003389904I2D: score=3 STRING: ENSP00000338990
    MYCP011063, ENSP000003672074I2D: score=3 STRING: ENSP00000367207
    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--

    ETFA 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

    ETFA for compounds           About GeneDecksing

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

    Browse Tocris compounds for ETFA

    1 HMDB Compound for ETFA    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 ETFA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acyl-coa 66.9 3 19265687 (1), 16527485 (1)

    Search CenterWatch for drugs/clinical trials and news about ETFA

    (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 ETFA gene (2 alternative transcripts): 
    NM_000126.3  NM_001127716.1  

    Unigene Cluster for ETFA:

    Electron-transfer-flavoprotein, alpha polypeptide
    Hs.39925  [show with all ESTs]
    Unigene Representative Sequence: AK292979
    18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000557943(uc002bbt.2 uc010bkq.1) ENST00000433983 ENST00000557975
    ENST00000267950 ENST00000565910 ENST00000560179 ENST00000560726 ENST00000559602
    ENST00000559973 ENST00000560595 ENST00000560899 ENST00000559075 ENST00000560044
    ENST00000560816 ENST00000558803 ENST00000559758 ENST00000560345 ENST00000559386

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    Additional mRNA sequence: 

    AK292979.1 AK300044.1 BC015526.1 BC029995.1 BC034156.1 BC095457.1 BT009796.1 J04058.1 

    24/28 DOTS entries (see all 28):

    DT.452682  DT.100845847  DT.100845842  DT.121019654  DT.100845838  DT.121019723  DT.100845840  DT.97862432 
    DT.100845841  DT.86853568  DT.100845839  DT.100845844  DT.102833401  DT.449350  DT.92452763  DT.95362494 
    DT.121019693  DT.92452760  DT.100717416  DT.100845833  DT.100845834  DT.121019667  DT.121019669  DT.92452756 

    24/444 AceView cDNA sequences (see all 444):

    BQ425663 BM785449 CR608419 BM857223 BQ954226 CA454925 BM795296 J04058 
    CF139853 AV650566 BC029995 BE869850 CR592726 BX507509 CB055035 BI753326 
    BM851553 CB270478 CF127663 BM804215 BM741544 BF970129 BQ893479 AI056817 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ETFA    About this scheme

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


    ECgene alternative splicing isoforms for ETFA

    (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

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


    ETFA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/35 selected tissues (see all 35) fully expand
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Thalamus
             brain/forebrain/telencephalon   
     
     Epithelium (Reproductive System)    fully expand to see all 4 entries
             cervix, uterine ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Nose (Sensory Organs)    fully expand to see all 3 entries
             nasopharynx ; respiratory epithelial cells   
             sensory organ/nose   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             colon ; endothelial cells   

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

    SOURCE GeneReport for Unigene cluster: Hs.39925
        SABiosciences Custom PCR Arrays for ETFA
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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 ETFA gene from 10/29 species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Etfa1 , 5 electron transferring flavoprotein, alpha polypeptide1, 5 91.69(n)1
    95.8(a)1
      9 (30.13 cM)5
    1108421  NM_145615.41  NP_663590.31 
     554545085 
    chicken
    (Gallus gallus)
    Aves ETFA1 electron-transfer-flavoprotein, alpha polypeptide 78.47(n)
    84.78(a)
      415353  NM_001030543.1  NP_001025714.1 
    lizard
    (Anolis carolinensis)
    Reptilia ETFA6
    Uncharacterized protein
    85(a)
    1 ↔ 1
    AAWZ02039250(143-6456)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.242462 Xenopus laevis transcribed sequence with moderate similarity more 74.56(n)    CA793847.1 
    zebrafish
    (Danio rerio)
    Actinopterygii etfa2 electron-transfer-flavoprotein, alpha polypeptide 74.29(n)   325724  BC047845.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta wal1 , 3 electron carrier3
    walrus1
    70(a)3
    63.31(n)1
    71.07(a)1
      362521  NM_057627.31  NP_476975.11 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_F27D4.11 Protein F27D4.1 62.94(n)
    64.54(a)
      172535  NM_059745.4  NP_492146.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AIM45(YPR004C)4
    AIM451
    Putative ortholog of mammalian electron transfer flavoprotein more4
    Aim45p1
    52.34(n)1
    47.77(a)1
      16(565041-564007)4
    8561121, 4  NP_015329.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ETFALPHA1 Electron transfer flavoprotein subunit alpha 56.99(n)
    52.05(a)
      841516  NM_103974.5  NP_175507.1 
    rice
    (Oryza sativa)
    Liliopsida Os.140842 Oryza sativa (japonica cultivar-group) cDNA clone0 more 69.88(n)    AK061773.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ETFA gene
    18/36 SIMAP similar genes for ETFA using alignment to 11 protein entries:     ETFA_HUMAN (see all proteins) (see all similar genes):
    ZRSR2    FAM138A    FAM138B    FAM138C    FAM138F    RBP7
    LOC100996577    pp12301    FAM138D    COQ5    RNF121    SNRPF
    OK/SW-cl.41    DDX19A    C12orf76    SH2B3    TUBA1C    ADCY7

    ETFA for paralogs           About GeneDecksing



    (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

    10/1943 SNPs in ETFA are shown (see all 1943)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0023674
    Glutaric aciduria 2A (GA2A)4--see VAR_0023672 V G mis40--------
    VAR_0023664
    Glutaric aciduria 2A (GA2A)4--see VAR_0023662 G R mis40--------
    VAR_0023684
    Glutaric aciduria 2A (GA2A)4--see VAR_0023682 T M mis40--------
    rs1194589701,2
    C,Fpathogenic156618613(-) ACAGAC/TGGGAA 4 T M mis12Minor allele frequency- T:0.00NA EU 5847
    rs58138241,2
    C--53271773(+) CTGAA-/TTTTTT 2 -- int1 trp32Minor allele frequency- T:0.00NA CSA 4
    rs1447214161,2
    C--53322546(+) ATCTC-/AAACA 
            
    AAACA
    2 -- int10--------
    rs342071521,2
    C--53322547(+) TCTCA-/AAACA 
            
    AACAA
    2 -- int10--------
    rs1145665741,2
    F--53322583(+) AAAAAA/GCTTCA 2 -- int11Minor allele frequency- G:0.08WA 118
    rs350937551,2
    C--53322720(+) TATATA/-AAAAA 2 -- int11Minor allele frequency- -:0.00NA 2
    rs751933941,2
    C--53326504(+) AAAAAC/AAAAAA 2 -- int11Minor allele frequency- A:0.00NA 2

    HapMap Linkage Disequilibrium report for ETFA (76507696 - 76603813 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for ETFA:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2749895CNV Deletion23290073
    esv2749898CNV Deletion23290073
    esv1180027CNV Insertion17803354
    nsv1618CNV Insertion18451855
    nsv520069CNV Loss19592680
    nsv833057CNV Loss17160897
    nsv527608CNV Loss19592680


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

    (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: 608053   
    OMIM disorders: 231680  
    UniProtKB/Swiss-Prot: ETFA_HUMAN, P13804
  • Glutaric aciduria 2A (GA2A) [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 ETFA:    About MalaCards
    glutaricaciduria, type iia    glutaric acidemia type ii    benign mesothelioma    gangliosidosis
    hemangioma    diffuse large b-cell lymphoma    celiac disease    b-cell lymphomas
    myopathy    tuberculosis    rheumatoid arthritis    arthritis
    hepatitis

    1 disease from the University of Copenhagen DISEASES database for ETFA:
    Gangliosidosis

    ETFA for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for ETFA gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    shock 10.9 2 17196136 (1), 17244485 (1)

    Genatlas disease: ETFA
    glutaric aciduria IIA,early onset

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

    Export disorders for ETFA 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 ETFA gene, integrated from 9 sources (see all 49):
    (articles sorted by number of sources associating them with ETFA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II -- and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient. (PubMed id 1882842)1, 2, 9 Indo Y.... Tanaka K. (1991)
    2. 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)
    3. Genome-wide association analysis implicates the involv ement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. (PubMed id 22491018)1, 4 Wang J....Platt A. (2012)
    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. 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. 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)
    8. 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)
    9. Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients. (PubMed id 1430199)1, 2 Freneaux E.... Rhead W. (1992)
    10. Molecular cloning and nucleotide sequence of cDNAs encoding the alpha-subunit of human electron transfer flavoprotein. (PubMed id 3170610)1, 2 Finocchiaro G.... Tanaka K. (1988)

    (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: 2108 HGNC: 3481 AceView: ETFA Ensembl:ENSG00000140374 euGenes: HUgn2108
    ECgene: ETFA H-InvDB: ETFA

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

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

    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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