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GPT2 Gene

protein-coding   GIFtS: 60
GCID: GC16P046918

Glutamic Pyruvate Transaminase (Alanine Aminotransferase)...

  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)
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Aliases
Glutamic Pyruvate Transaminase (Alanine Aminotransferase) 21 2     GPT 22 3
ALT22 3 5     EC 2.6.1.23 8
Glutamate Pyruvate Transaminase 22 3     Alanine Aminotransferase 22
Glutamic--Alanine Transaminase 22 3     Glutamic-Pyruvate Transaminase 22
Glutamic--Pyruvic Transaminase 22 3     AAT23

External Ids:    HGNC: 180621   Entrez Gene: 847062   Ensembl: ENSG000001661237   OMIM: 1382105   UniProtKB: Q8TD303   

Export aliases for GPT2 gene to outside databases

Previous GC identifers: GC16P037329 GC16P046859 GC16P046658 GC16P046699 GC16P045475 GC16P032808


(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 GPT2 Gene:
This gene encodes one of the two pyridoxal enzymes which catalyze a reversible transamination reaction to yield
glutamate and pyruvate so these enzymes participate in amino acid metabolism and gluconeogenesis. Multiple
transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Dec 2011)

GeneCards Summary for GPT2 Gene:
GPT2 (glutamic pyruvate transaminase (alanine aminotransferase) 2) is a protein-coding gene. Diseases associated with GPT2 include kwashiorkor, and elephantiasis. GO annotations related to this gene include pyridoxal phosphate binding and L-alanine:2-oxoglutarate aminotransferase activity. An important paralog of this gene is GPT.

UniProtKB/Swiss-Prot: ALAT2_HUMAN, Q8TD30
Function: Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and
glutamate




(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:
NC_000016.10  NC_018927.2  NT_010498.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the GPT2 gene promoter:
         AREB6   NF-1   C/EBPbeta   SREBP-1a   ARP-1   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGPT2 promoter sequence
   Search Chromatin IP Primers for GPT2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GPT2


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

Entrez Gene cytogenetic band: 16q12.1   Ensembl cytogenetic band:  16q11.2   HGNC cytogenetic band: 16q12.1

GPT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GPT2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P046918:  view genomic region     (about GC identifiers)

Start:
46,918,290 bp from pter      End:
46,965,209 bp from pter
Size:
46,920 bases      Orientation:
plus 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, 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., 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: ALAT2_HUMAN, Q8TD30 (See protein sequence)
Recommended Name: Alanine aminotransferase 2  
Size: 523 amino acids; 57904 Da
Cofactor: Pyridoxal phosphate
Subunit: Homodimer (By similarity)
1 PDB 3D structure from and Proteopedia for GPT2:
3IHJ (3D)    
Secondary accessions: Q8N9E2
Alternative splicing: 2 isoforms:  Q8TD30-1   Q8TD30-2   

Explore the universe of human proteins at neXtProt for GPT2: NX_Q8TD30

Explore proteomics data for GPT2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GPT2 (Q8TD30) (see all 12)
     ELASFHS  SVRLCPP  YAVRGPIV  RILQACGG 


    See GPT2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001135938.1  NP_597700.1  

    ENSEMBL proteins: 
     ENSP00000345282   ENSP00000457475   ENSP00000413804  
    Reactome Protein details: Q8TD30

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    Browse CLIAs at Cloud-Clone Corp.


    (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:
     IPR015422 PyrdxlP-dep_Trfase_major_sub2
     IPR004839 Aminotransferase_I/II
     IPR015424 PyrdxlP-dep_Trfase
     IPR015421 PyrdxlP-dep_Trfase_major_sub1

    Graphical View of Domain Structure for InterPro Entry Q8TD30

    ProtoNet protein and cluster: Q8TD30

    1 Blocks protein domain: IPB004839 Aminotransferase

    UniProtKB/Swiss-Prot: ALAT2_HUMAN, Q8TD30
    Similarity: Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. Alanine aminotransferase
    subfamily


    GPT2 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ALAT2_HUMAN, Q8TD30
    Function: Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and
    glutamate
    Catalytic activity: L-alanine + 2-oxoglutarate = pyruvate + L-glutamate

         Enzyme Number (IUBMB): EC 2.6.1.21 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004021L-alanine:2-oxoglutarate aminotransferase activity IDA11863375
    GO:0030170pyridoxal phosphate binding IEA--
         
    GPT2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GPT2:
     Increased number of cells in m 

    Animal Models:
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    hsa-mir-27a-3p (MIRT028719), hsa-mir-155-5p (MIRT020600), hsa-mir-1909-5p (MIRT035805), hsa-mir-320a (MIRT044565)

    Block miRNA regulation of human, mouse, rat GPT2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GPT2 (see all 43):
    hsa-miR-3938 hsa-miR-30d hsa-miR-374a hsa-miR-301a hsa-miR-519a hsa-miR-766 hsa-miR-30a hsa-miR-3122
    SwitchGear 3'UTR luciferase reporter plasmidGPT2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GPT2


    (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 COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion4
    cytosol1
    endoplasmic reticulum1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    GPT2 for ontologies           About GeneDecksing


    (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 GPT2 About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2Carbon metabolism
    Carbon metabolism0.38
    2-Oxocarboxylic acid metabolism0.00
    Biosynthesis of amino acids0.38
    3Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    Amino acid synthesis and interconversion (transamination)0.00
    4Alanine, aspartate and glutamate metabolism
    Alanine, aspartate and glutamate metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for GPT2
        Amino acid synthesis and interconversion (transamination)


    5 Kegg Pathways  (Kegg details for GPT2):
        Alanine, aspartate and glutamate metabolism
    Metabolic pathways
    Carbon metabolism
    2-Oxocarboxylic acid metabolism
    Biosynthesis of amino acids

    UniProtKB/Swiss-Prot: ALAT2_HUMAN, Q8TD30
    Pathway: Amino-acid degradation; L-alanine degradation via transaminase pathway; pyruvate from L-alanine: step 1/1


    GPT2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GPT2
    Interactions:

        GeneGlobe Interaction Network for GPT2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for GPT2 (Q8TD303 ENSP000003452824) via UniProtKB, MINT, STRING, and/or I2D (see all 30)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    BABAM1Q9NWV83, ENSP000003524084I2D: score=2 STRING: ENSP00000352408
    USP20Q9Y2K63, ENSP000003138114I2D: score=2 STRING: ENSP00000313811
    HSPA9P386463, ENSP000002971854I2D: score=1 STRING: ENSP00000297185
    THNSL2Q86YJ63, ENSP000003273234I2D: score=1 STRING: ENSP00000327323
    USP7Q930093, ENSP000003435354I2D: score=4 STRING: ENSP00000343535
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00061032-oxoglutarate metabolic process IDA11863375
    GO:0008652cellular amino acid biosynthetic process TAS--
    GO:0009058biosynthetic process ----
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0042851L-alanine metabolic process IDA11863375

    GPT2 for ontologies           About GeneDecksing



    (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 GPT2 (ALAT2)

    6 HMDB Compounds for GPT2    About this table
    CompoundSynonyms CAS #PubMed Ids
    FamotidineAmfamox (see all 83)76824-35-6--
    L-Alanine(2S)-2-Aminopropanoate (see all 35)56-41-7--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    Oxoglutaric acid2-Ketoglutarate (see all 9)328-50-7--
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--
    Pyruvic acid2-Oxopropanoate (see all 14)127-17-3--

    4 DrugBank Compounds for GPT2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Alanine(2S)-2-Aminopropanoic acid (see all 15)56-41-7target--11863375 17139284 16495081 17016423 15122758
    Phenelzine-- 51-71-8targetinhibitor11775064 1881457 19203467
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor241701 17139284 17016423
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--17139284 17016423

    3 Novoseek inferred chemical compound relationships for GPT2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alanine 69.6 5 11863375 (1), 18515302 (1), 12698502 (1), 15122758 (1)
    aspartate 29.8 1 12698502 (1)
    glucose 0 2 11863375 (1), 12698502 (1)



    GPT2 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GPT2 gene (2 alternative transcripts): 
    NM_001142466.1  NM_133443.2  

    Unigene Cluster for GPT2:

    Glutamic pyruvate transaminase (alanine aminotransferase) 2
    Hs.460693  [show with all ESTs]
    Unigene Representative Sequence: NM_133443
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000340124(uc002eel.3) ENST00000562132 ENST00000440783(uc002eem.3)
    ENST00000562801 ENST00000569193(uc002een.3)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate GPT2 (see all 43):
    hsa-miR-3938 hsa-miR-30d hsa-miR-374a hsa-miR-301a hsa-miR-519a hsa-miR-766 hsa-miR-30a hsa-miR-3122
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    Additional mRNA sequence: 

    AK090957.1 AK094971.1 AL833351.1 AY029173.2 BC051364.1 BC062555.1 

    9 DOTS entries:

    DT.419329  DT.97818312  DT.100783490  DT.95077707  DT.120722391  DT.92435788  DT.95077656  DT.95306842 
    DT.95104528 

    Selected AceView cDNA sequences (see all 228):

    AY029173 AI077572 AW020177 AI799908 BX393524 BE298184 BQ651331 AA307559 
    BC062555 BF794537 AI202436 BQ422838 AI493051 AW297287 BE327751 BC051364 
    AA761079 Z41243 BQ649725 BE048491 BM699442 CF132507 BQ011073 AI203427 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GPT2 (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for GPT2

    (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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    GPT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCTGAGGAA
    GPT2 Expression
    About this image


    GPT2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Adipose (Muscoskeletal System)
             Visceral White Adipose
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Liver (Hepatobiliary System)
    GPT2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GPT2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.460693

    UniProtKB/Swiss-Prot: ALAT2_HUMAN, Q8TD30
    Tissue specificity: Expressed at high levels in muscle, adipose tissue, kidney and brain and at lower levels in
    the liver and breast

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GPT2

    (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 GPT2 gene from Selected species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gpt21 , 5 glutamic pyruvate transaminase (alanine aminotransferase) more1, 5 88.51(n)1
    93.1(a)1
      8 (41.61 cM)5
    1086821  NM_173866.31  NP_776291.11 
     854925765 
    chicken
    (Gallus gallus)
    Aves GPT21 glutamic pyruvate transaminase (alanine aminotransferase) more 77.34(n)
    88.02(a)
      415746  XM_414111.4  XP_414111.3 
    lizard
    (Anolis carolinensis)
    Reptilia aca-mir-53926
    aca-mir-5392
    80(a)
    1 ↔ 1
    LGc(3457049-3497158)
    African clawed frog
    (Xenopus laevis)
    Amphibia BU906297.12   -- 75.03(n)    BU906297.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufd46f012 Danio rerio cDNA clone IMAGE6791811, partial cds 75.79(n)    BC061955.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG16401 , 3 alanine aminotransferase3
    CG16401
    55(a)3
    60.15(n)1
    55.46(a)1
      11F13
    322921  NM_132651.21  NP_572879.21 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_C32F10.81 CELE_C32F10.8 55.6(n)
    54.76(a)
      172252  NM_001025850.4  NP_001021021.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ALT1(YLR089C)4
    ALT11
    Alanine transaminase (glutamic pyruvic transaminase); more4
    ALT11
    51.07(n)1
    48.5(a)1
      12(320015-318237)4
    8507781, 4  NP_013190.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ALAAT21 ALAAT2 53.19(n)
    47.02(a)
      843565  NM_001198451.1  NP_001185380.1 
    rice
    (Oryza sativa)
    Liliopsida Os10g03905001 Os10g0390500 51.42(n)
    45.32(a)
      4348524  NM_001071039.1  NP_001064504.1 


    ENSEMBL Gene Tree for GPT2 (if available)
    TreeFam Gene Tree for GPT2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GPT2 gene
    GPT2  
    1 SIMAP similar gene for GPT2 using alignment to 2 protein entries:     ALAT2_HUMAN (see all proteins):
    GPT

    GPT2 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), 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 GPT2 (see all 844)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs49675941,2
    C,F,A,H--46916594(+) TGACAA/C/TGTGGG 1 -- us2k1 tfbs324NS EA NA WA CSA 1659
    rs1395150241,2
    --46916611(+) GCAAGG/TGACTG 1 -- us2k10--------
    rs1496813881,2
    --46916647(+) TCAAGC/TGTGTT 1 -- us2k10--------
    rs1914612271,2
    --46916679(+) TGTGTC/TTCAAC 1 -- us2k10--------
    rs49667061,2
    C,F,A,H--46916727(+) AGCTCT/ACTGGG 1 -- us2k117Minor allele frequency- A:0.17NS EA NA WA CSA 796
    rs49675951,2
    C,F,H--46916747(+) TACCTG/AGAGAC 1 -- us2k117Minor allele frequency- A:0.02NS NA WA CSA EA 1166
    rs1150077341,2
    F--46916821(+) GCCCAA/GATAAC 1 -- us2k11Minor allele frequency- G:0.01WA 118
    rs1462172061,2
    --46916889(+) TCTTCG/TGTTTC 1 -- us2k10--------
    rs1390624121,2
    --46917038(+) GTGCAC/TGGCTG 1 -- us2k10--------
    rs1854993921,2
    --46917151(+) GCTCTG/TGGCTG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for GPT2 (46918290 - 46965209 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for GPT2: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GPT2
    DNA2.0 Custom Variant and Variant Library Synthesis for GPT2

    (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: 138210    OMIM disorders: --

    10 diseases for GPT2:    
    About MalaCards
    kwashiorkor    elephantiasis    lymphangitis    filariasis
    hepatitis c    hepatitis c virus    pneumonia    hepatitis
    malaria    cerebritis


    GPT2 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for GPT2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    liver damage 67 2 19085960 (1)

    Genetic Association Database (GAD): GPT2
    Human Genome Epidemiology (HuGE) Navigator: GPT2 (1 document)

    Export disorders for GPT2 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 GPT2 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with GPT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning, genomic structure, chromosomal mapping, and functional expression of a novel human alanine aminotransferase. (PubMed id 11863375)1, 2, 7, 9 Yang R.-Z.... Gong D.-W. (Genomics 2002)
    2. 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)
    3. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)1, 2 Martin J.... Pennacchio L.A. (Nature 2004)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Murine alanine aminotransferase: cDNA cloning, functional expression, and differential gene regulation in mouse fatty liver. (PubMed id 15122758)7, 9 Jadhao S.B....Jadaho S.B. (Hepatology 2004)
    7. cDNA cloning, expression, purification, distribution, and characterization of biologically active canine alanine aminotransferase-1. (PubMed id 16495081)7, 9 Rajamohan F....Lawton M. (Protein Expr. Purif. 2006)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    9. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    10. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)

    (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: 84706 HGNC: 18062 AceView: GPT2 Ensembl:ENSG00000166123 euGenes: HUgn84706
    ECgene: GPT2 Kegg: 84706 H-InvDB: GPT2

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for GPT2 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 GPT2 gene:
    Search GeneIP for patents involving GPT2

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



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