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GABPA Gene

protein-coding   GIFtS: 63
GCID: GC21P027106

GA Binding Protein Transcription Factor, Alpha Subunit 6...

(Previous names: GA-binding protein transcription factor, alpha subunit (6...)
  See GABPA-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
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Aliases
GA Binding Protein Transcription Factor, Alpha Subunit 60kDa1 2     E4TF1-602
E4TF1A2 3 5     NFT22
Human Nuclear Respiratory Factor-2 Subunit Alpha2 11     NRF22
Nuclear Respiratory Factor 2 Alpha Subunit1 2     NRF2A2
Nuclear Respiratory Factor 2 Subunit Alpha2 3     RCH04A072
Transcription Factor E4TF1-602 3     GA Binding Protein Transcription Factor Alpha Subunit 60kDa2
GABP Subunit Alpha2 3     GA-Binding Protein Alpha Chain2
GA-Binding Protein Transcription Factor, Alpha Subunit (60kD)1     

External Ids:    HGNC: 40711   Entrez Gene: 25512   Ensembl: ENSG000001547277   OMIM: 6006095   UniProtKB: Q065463   

Export aliases for GABPA gene to outside databases

Previous GC identifers: GC21P023686 GC21P026023 GC21P026029 GC21P026028 GC07P062691


(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 GABPA Gene:
This gene encodes one of three GA-binding protein transcription factor subunits which functions as a DNA-binding
subunit. Since this subunit shares identity with a subunit encoding the nuclear respiratory factor 2 gene, it is
likely involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function.
This subunit also shares identity with a subunit constituting the transcription factor E4TF1, responsible for
expression of the adenovirus E4 gene. Because of its chromosomal localization and ability to form heterodimers
with other polypeptides, this gene may play a role in the Down Syndrome phenotype. Two transcript variants
encoding the same protein have been found for this gene. (provided by RefSeq, Oct 2010)

GeneCards Summary for GABPA Gene:
GABPA (GA binding protein transcription factor, alpha subunit 60kDa) is a protein-coding gene. Diseases associated with GABPA include down syndrome. GO annotations related to this gene include chromatin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is ETV1.

UniProtKB/Swiss-Prot: GABPA_HUMAN, Q06546
Function: Transcription factor capable of interacting with purine rich repeats (GA repeats). Necessary for the
expression of the Adenovirus E4 gene

Gene Wiki entry for GABPA 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, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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RefSeq DNA sequence at NCBI GenBank:
NC_000021.8  NT_011512.12  NC_018932.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GABPA gene promoter:
         TBP   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGABPA promoter sequence

   Search Chromatin IP Primers for GABPA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GABPA


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

Entrez Gene cytogenetic band: 21q21.3   Ensembl cytogenetic band:  21q21.3   HGNC cytogenetic band: 21q21-q22.1
Nature(405: 311-319) cytogenetic band:   21q21.3
GABPA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GABPA gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21P027106:   GeneLoc Nature:405,311-319
Start:
27,106,881 bp from pter       12,685,464 bp from centromere
End:
27,144,771 bp from pter 12,719,695 bp from centromere
Size:
37,891 bases 34,232 bases
Orientation:
plus strand plus strand

Whole chromosome sequencing:
cDNA sequence: U13044D13318
genomic clones: pT172


(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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GABPA_HUMAN, Q06546 (See protein sequence)
Recommended Name: GA-binding protein alpha chain  
Size: 454 amino acids; 51295 Da
Subunit: Heterotetramer of two alpha and two beta subunits
Secondary accessions: Q12939

Explore the universe of human proteins at neXtProt for GABPA: NX_Q06546

Explore proteomics data for GABPA at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys359
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001184226.1  NP_002031.2  

    ENSEMBL proteins: 
     ENSP00000346886   ENSP00000382948  
    Reactome Protein details: Q06546

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    Browse Proteins at Cloud-Clone Corp.

     
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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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    Selected InterPro protein domains (see all 6):
     IPR000418 Ets_dom
     IPR024668 GABP_asu_N
     IPR011991 WHTH_DNA-bd_dom
     IPR003118 Pointed_dom
     IPR013761 SAM/pointed

    Graphical View of Domain Structure for InterPro Entry Q06546

    ProtoNet protein and cluster: Q06546

    1 Blocks protein domain: IPB003118 Sterile alpha motif (SAM)/Pointed domain

    UniProtKB/Swiss-Prot: GABPA_HUMAN, Q06546
    Similarity: Belongs to the ETS family
    Similarity: Contains 1 ETS DNA-binding domain
    Similarity: Contains 1 PNT (pointed) domain


    Find genes that share domains with GABPA           About GenesLikeMe


    (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,
    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: GABPA_HUMAN, Q06546
    Function: Transcription factor capable of interacting with purine rich repeats (GA repeats). Necessary for the
    expression of the Adenovirus E4 gene

         Genatlas biochemistry entry for GABPA:
    GA binding protein,alpha subunit with an ETS related domain,component of the nuclear respiratory factor
    2,ubiquitously expressed,interacting with the four ankyrin-type repeats to form a high affinity DNA-binding
    complex recognizing an important site for herpes simplex virus type I activation,putatively involved in the
    activation of nuclear genes specifying mitochondrial function

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA--
    GO:0001228RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA--
    GO:0003677DNA binding TAS8441384
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity TAS7590737
         
    Find genes that share ontologies with GABPA           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for GABPA:
     Decreased viability with pacli 

         11 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Gabpa):
     cellular  embryogenesis  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  muscle  nervous system  no phenotypic analysis 
     normal 

    Find genes that share phenotypes with GABPA           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for GABPA: Gabpatm1.1Sjb Gabpatm1Rist

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GABPA
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GABPA
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GABPA

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  AACCGGAAGT 

    miRNA
    Products:
        
    miRTarBase miRNAs that target GABPA:
    hsa-mir-18a-5p (MIRT031329), hsa-mir-92a-3p (MIRT048948)

    Block miRNA regulation of human, mouse, rat GABPA using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GABPA (see all 123):
    hsa-miR-411* hsa-miR-579 hsa-miR-548j hsa-miR-193a-3p hsa-miR-607 hsa-miR-146a hsa-miR-15a hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidGABPA 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GABPA
    Predesigned siRNA for gene silencing in human, mouse, rat GABPA

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): GABPA (NM_002040)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GABPA

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABPA


    (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
    GABPA_HUMAN, Q06546: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin IDA--
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--

    Find genes that share ontologies with GABPA           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 GABPA About    
    See pathways by source

    SuperPathContained pathways About
    1Myometrial Relaxation and Contraction Pathways
    Myometrial Relaxation and Contraction Pathways0.43
    2Energy Metabolism
    Energy Metabolism
    3Agrin Interactions at Neuromuscular Junction
    Agrin Interactions at Neuromuscular Junction


    Find genes that share SuperPaths with GABPA           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for GABPA
        Agrin Interactions at Neuromuscular Junction

    2 BioSystems Pathways for GABPA
        Myometrial Relaxation and Contraction Pathways
    Energy Metabolism

    1 Reactome Pathway for GABPA
        Transcriptional activation of mitochondrial biogenesis


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

        GeneGlobe Interaction Network for GABPA

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

    Selected Interacting proteins for GABPA (Q065461, 2, 3 ENSP000003468864) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HCFC1P516101, 3, ENSP000003095554EBI-638925,EBI-396176 I2D: score=4 STRING: ENSP00000309555
    SP1P080472, 3, ENSP000003293574MINT-49851 MINT-49852 I2D: score=4 STRING: ENSP00000329357
    SP3Q024472, 3, ENSP000003103014MINT-49853 MINT-49854 I2D: score=4 STRING: ENSP00000310301
    GABPB1Q065473, ENSP000003702594I2D: score=4 STRING: ENSP00000370259
    ATF1P188463, ENSP000002620534I2D: score=3 STRING: ENSP00000262053
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001701in utero embryonic development IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006357regulation of transcription from RNA polymerase II promoter ----
    GO:0006366transcription from RNA polymerase II promoter TAS8441384

    Find genes that share ontologies with GABPA           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 GABPA

    9 Novoseek inferred chemical compound relationships for GABPA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tbhq 74.1 19 15525690 (5), 19174151 (2), 15582588 (1), 15923610 (1)
    diethylmaleate 57.5 7 15521073 (1), 17077087 (1), 15379550 (1)
    curcumin 37.6 4 17913594 (1), 17449203 (1), 15923610 (1)
    arsenite 35.5 3 15521073 (1), 18572023 (1), 12745069 (1)
    oxygen 23.4 7 19679692 (2), 17077087 (1), 18717629 (1), 20030899 (1)
    atp 0 3 1656236 (2), 12539966 (1)
    lipid 0 2 18230803 (1)
    calcium 0 2 12665481 (2)
    serine 0 1 7799916 (1)



    Find genes that share compounds with GABPA           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 GABPA gene (2 alternative transcripts): 
    NM_001197297.1  NM_002040.3  

    Unigene Cluster for GABPA:

    GA binding protein transcription factor, alpha subunit 60kDa
    Hs.473470  [show with all ESTs]
    Unigene Representative Sequence: BX647755
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000354828(uc002ylx.4) ENST00000400075(uc002yly.4) ENST00000487266

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    Selected qRT-PCR Assays for microRNAs that regulate GABPA (see all 123):
    hsa-miR-411* hsa-miR-579 hsa-miR-548j hsa-miR-193a-3p hsa-miR-607 hsa-miR-146a hsa-miR-15a hsa-miR-374a
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    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat GABPA

    Additional mRNA sequence: 

    AK223164.1 AK313545.1 BC035031.2 BX647755.1 D13318.1 EU159453.1 JQ313900.1 U13044.1 
    X84366.1 

    15 DOTS entries:

    DT.99933995  DT.99992826  DT.100727081  DT.453987  DT.121138154  DT.121138106  DT.70101580  DT.121137994 
    DT.121138144  DT.437389  DT.449898  DT.92407558  DT.121079420  DT.121138049  DT.70104921 

    Selected AceView cDNA sequences (see all 135):

    BX647755 AI990899 AW105605 AA497016 NM_002040 BU188528 AU107258 CA952631 
    AU107257 AA489598 X84366 AI554509 AI378047 BM977191 AA173607 BU683067 
    AI075824 CA392232 T93885 AU107260 AI684289 AA935134 BQ023312 BQ423139 

    GeneLoc Exon Structure


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


    GABPA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Thymus (Hematopoietic System)
             Thymus
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Kidney (Urinary System)
             Metanephros
    GABPA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GABPA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.473470
        Custom PCR Arrays for GABPA
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABPA

    (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 animals.

    Orthologs for GABPA gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gabpa1 , 5 GA repeat binding protein, alpha1, 5 89.7(n)1
    96.25(a)1
      16 (46.92 cM)5
    143901  NM_008065.21  NP_032091.21 
     848349255 
    chicken
    (Gallus gallus)
    Aves GABPA1 GA binding protein transcription factor, alpha subunit more 82.12(n)
    93.38(a)
      418478  NM_001007858.1  NP_001007859.1 
    lizard
    (Anolis carolinensis)
    Reptilia GABPA6
    GA binding protein transcription factor, alpha sub...
    94(a)
    1 ↔ 1
    3(148256363-148275005)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.346172 Xenopus laevis transcribed sequence with moderate similarity more 78.03(n)    BJ095846.1 
    zebrafish
    (Danio rerio)
    Actinopterygii e4tf2 E4tf1-60 transcription factor 74.07(n)   58110  AF257741.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ets97D1 , 3 DNA binding3
    Ets at 97D1
    38(a)3
    48.23(n)1
    41.92(a)1
      3 97D73
    432361  NM_079799.31  NP_524523.21 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GABPA gene
    ETV12  ETV32  ERF2  ETV52  ETV3L2  ETS12  ETS22  ERG2  
    FEV2  ETV42  ETV22  FLI12  
    3 SIMAP similar genes for GABPA using alignment to 3 protein entries:     GABPA_HUMAN (see all proteins):
    GABPAP    FEV    ELK3

    Find genes that share paralogs with GABPA           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for GABPA
    PGOHUM00000233346


    (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 GABPA (see all 796)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1504576811,2
    --12508510(+) TGAAAA/GCAAAC 2 -- us2k10--------
    rs1899827161,2
    --12508512(+) AAAGCA/TAACTG 2 -- us2k10--------
    rs1383062981,2
    --12508519(+) ACTGTC/TTGAAG 2 -- us2k10--------
    rs1820134611,2
    --12508520(+) CTGTTC/TGAAGA 2 -- us2k10--------
    rs1492231751,2
    --12508694(+) GTGGTC/TGGGCG 2 -- us2k10--------
    rs1847442111,2
    --12508806(+) TCTCTA/TCTGAA 2 -- us2k10--------
    rs747714541,2
    F--12508834(+) AGGCAA/TGATGG 2 -- us2k11Minor allele frequency- T:0.33NA 6
    rs1891477531,2
    --12508842(+) GTGGCA/GGGCAC 2 -- us2k10--------
    rs748974001,2
    C--12508863(-) CCCGAG/ATAGCT 2 -- us2k11Minor allele frequency- A:0.00NA 2
    rs1809268171,2
    --12508925(+) AGATCA/GTGCCA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for GABPA (27106881 - 27144771 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for GABPA:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv913653CNV Loss21882294
    nsv913654CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GABPA
    DNA2.0 Custom Variant and Variant Library Synthesis for GABPA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600609    OMIM disorders: --

    1 disease for GABPA:    
    About MalaCards
    down syndrome


    Find genes that share disorders with GABPA           About GenesLikeMe

    1 Novoseek inferred disease relationship for GABPA gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neurodegenerative diseases 28.9 2 18824091 (1), 18717629 (1)

    Genetic Association Database (GAD): GABPA
    Human Genome Epidemiology (HuGE) Navigator: GABPA (3 documents)

    Export disorders for GABPA 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)
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    PubMed articles for GABPA gene, integrated from 10 sources (see all 153):
    (articles sorted by number of sources associating them with GABPA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning of transcription factor E4TF1 subunits with Ets and notch motifs. (PubMed id 8441384)1, 2, 3 Watanabe H.... Handa H. (Mol. Cell. Biol. 1993)
    2. Four structurally distinct, non-DNA-binding subunits of human nuclear respiratory factor 2 share a conserved transcriptional activation domain. (PubMed id 7799916)1, 2, 9 Gugneja S.... Scarpulla R.C. (Mol. Cell. Biol. 1995)
    3. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (J. Lipid Res. 2008)
    4. Nuclear respiratory factor 2 induces the expression of many but not all human proteins acting in mitochondrial DNA transcription and replication. (PubMed id 19951946)1, 9 Bruni F....Roberti M. (J. Biol. Chem. 2010)
    5. In vitro methylation of nuclear respiratory factor-2 binding sites suppresses the promoter activity of the human TOMM70 gene. (PubMed id 18852034)1, 9 Blesa J.R....HernA!ndez-Yago J. (Gene 2008)
    6. Identification of polymorphisms in the promoter region of the human NRF2 gene. (PubMed id 15358217)4, 9 Yamamoto T....Yamamoto M. (Biochem. Biophys. Res. Commun. 2004)
    7. Mapping of the human transcription factor GABPA (E4TF1-60) gene to chromosome 21. (PubMed id 7590737)1, 9 Chrast R....Antonarakis S.E. (Genomics 1995)
    8. Human nuclear respiratory factor 2 alpha subunit cDNA: isolation, subcloning, sequencing, and in situ hybridization of transcripts in normal and monocularly deprived macaque visual system. (PubMed id 10660899)1, 9 Guo A....Wong-Riley M. (J. Comp. Neurol. 2000)
    9. Nuclear respiratory factor 2 activates transcription of human mitochondrial translation initiation factor 2 gene. (PubMed id 17161026)1, 9 Hayashi R....Takeuchi N. (Mitochondrion 2007)
    10. Activation of synoviolin promoter in rheumatoid synovial cells by a novel transcription complex of interleukin enhancer binding factor 3 and GA binding protein alpha. (PubMed id 19116932)1, 9 Izumi T....Nakajima T. (Arthritis Rheum. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 2551 HGNC: 4071 AceView: GABPA Ensembl:ENSG00000154727 euGenes: HUgn2551
    ECgene: GABPA H-InvDB: GABPA

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for GABPA Pharmacogenomics, SNPs, Pathways

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

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



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