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

GOT2 Gene

protein-coding   GIFtS: 66
GCID: GC16M058741

glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate...

 Explore 29 diseases affiliated with
GOT2 via our new
 Human Malady Compendium 
Biological research products
for GOT2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Glutamic-Oxaloacetic Transaminase 2, Mitochondrial (Aspartate
Aminotransferase 2)1 2
     Plasma Membrane-Associated Fatty Acid-Binding Protein2 3
KAT41 2     Transaminase A2 3
KATIV1 2     FABP-12 3
MitAAT1     FABPpm2 3
Fatty Acid-Binding Protein2 3     MAspAT1
Glutamate Oxaloacetate Transaminase 22 3     EC 2.6.1.13 8
Kynurenine Aminotransferase 42 3     Aspartate Aminotransferase, Mitochondrial2
Kynurenine Aminotransferase IV2 3     EC 2.6.1.73
Kynurenine--Oxoglutarate Transaminase 42 3     EC 2.6.18
Kynurenine--Oxoglutarate Transaminase IV2 3     

External Ids:    HGNC: 44331   Entrez Gene: 28062   Ensembl: ENSG000001251667   OMIM: 1381505   UniProtKB: P005053   

Export aliases for GOT2 gene to outside databases

Previous GC identifers: GC16M049137 GC16M058827 GC16M058475 GC16M058516 GC16M057298 GC16M044606


(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 GOT2:
Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and
inner-membrane mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the
urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. (provided by RefSeq, Jul
2008)

UniProtKB/Swiss-Prot: AATM_HUMAN, P00505
Function: Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid
(KA). Plays a key role in amino acid metabolism. Important for metabolite exchange between mitochondria and cytosol.
Facilitates cellular uptake of long-chain free fatty acids

Gene Wiki entry for GOT2


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GOT2 gene promoter:
         MIF-1   NF-kappaB   GATA-2   AREB6   SRY   POU2F1a   NF-kappaB2   FOXJ2 (long isoform)   FOXJ2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGOT2 promoter sequence
   Search SABiosciences Chromatin IP Primers for GOT2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GOT2


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

Entrez Gene cytogenetic band: 16q21   Ensembl cytogenetic band:  16q21   HGNC cytogenetic band: 16q21

GOT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GOT2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M058741:  view genomic region     (about GC identifiers)

Start:
58,741,035 bp from pter      End:
58,768,261 bp from pter
Size:
27,227 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AATM_HUMAN, P00505 (See protein sequence)
Recommended Name: Aspartate aminotransferase, mitochondrial precursor  
Size: 430 amino acids; 47518 Da
Cofactor: Pyridoxal phosphate
Subunit: Homodimer
Subcellular location: Mitochondrion matrix. Cell membrane. Note=Exposure to alcohol promotes translocation to the cell
membrane
Miscellaneous: In eukaryotes there are cytoplasmic, mitochondrial and chloroplastic isozymes
Secondary accessions: Q53FL3 Q9BWA3

Explore the universe of human proteins at neXtProt for GOT2: NX_P00505

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P00505

  • 4/19 DME Specific Peptides for GOT2 (P00505) (see all 19)
     LDKEYLP  DPILGVT  MGPPDPI  ADEAKRV 

    GOT2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002071.2  
    ENSEMBL proteins: 
     ENSP00000245206   ENSP00000394100   ENSP00000456205  
    Reactome Protein details: P00505
    Human Recombinant Protein Products: 
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    Browse Proteins at Uscn

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ISS--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005759mitochondrial matrix TAS--
    GO:0005886plasma membrane IDA9537447


    GOT2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    GOT2 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR004838 NHTrfase_class1_PyrdxlP-BS
     IPR004839 Aminotransferase_I/II
     IPR015424 PyrdxlP-dep_Trfase
     IPR000796 Asp_trans
     IPR015421 PyrdxlP-dep_Trfase_major_sub1

    Graphical View of Domain Structure for InterPro Entry P00505

    ProtoNet protein and cluster: P00505

    3 Blocks protein families:
    IPB000796 Aspartate aminotransferase signature
    IPB004838 Aminotransferase
    IPB004839 Aminotransferase


    UniProtKB/Swiss-Prot: AATM_HUMAN, P00505
    Similarity: Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: AATM_HUMAN, P00505
    Function: Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid
    (KA). Plays a key role in amino acid metabolism. Important for metabolite exchange between mitochondria and cytosol.
    Facilitates cellular uptake of long-chain free fatty acids
    Catalytic activity: L-aspartate + 2-oxoglutarate = oxaloacetate + L-glutamate
    Catalytic activity: L-kynurenine + 2-oxoglutarate = 4-(2-aminophenyl)-2,4-dioxobutanoate + L-glutamate
    Induction: Up-regulated by long-time exposure to alcohol

         Genatlas biochemistry entry for GOT2:
    glutamic-oxaloacetic transaminase 2,mitochondrial (aspartate aminotransferase 1)

    Enzyme Numbers (IUBMB): EC 2.6.1.11 2 EC 2.6.12 EC 2.6.1.71

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    hsa-miR-320a hsa-miR-30c hsa-miR-181c hsa-miR-4318 hsa-miR-139-5p hsa-miR-30d hsa-miR-30a hsa-miR-181b
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004069L-aspartate:2-oxoglutarate aminotransferase activity ISS--
    GO:0016212kynurenine-oxoglutarate transaminase activity IEA--
    GO:0030170pyridoxal phosphate binding IEA--
    GO:0080130L-phenylalanine:2-oxoglutarate aminotransferase activity IEA--


    GOT2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for GOT2:
     Synthetic lethal with Ras 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/15 super-pathways (see all 15About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1glutamate degradation II
    glutamate degradation II1.00
    aspartate degradation II0.60
    aspartate biosynthesis1.00
    Phenylalanine, tyrosine and tryptophan biosynthesis0.33
    2Glucose metabolism
    Glucose metabolism1.00
    Gluconeogenesis0.50
    3Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    4Tyrosine metabolism
    Tyrosine metabolism1.00
    Phenylalanine metabolism0.35
    5Amino acid synthesis and interconversion (transamination)
    Amino acid synthesis and interconversion (transamination)1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/6 BioSystems Pathways for GOT2 (see all 6
        Glycolysis and Gluconeogenesis
    phenylalanine degradation IV (mammalian, via side chain)
    Alanine and aspartate metabolism
    aspartate degradation II
    glutamate degradation II

    5/6        Reactome Pathways for GOT2 (see all 6)
        Gluconeogenesis
    Metabolism of carbohydrates
    Metabolism
    Glucose metabolism
    Amino acid synthesis and interconversion (transamination)

    1 PharmGKB Pathway for GOT2
        Valproic Acid Pathway, Pharmacodynamics

    5/8         Kegg Pathways  (Kegg details for GOT2) (see all 8):
        Alanine, aspartate and glutamate metabolism
    Cysteine and methionine metabolism
    Arginine and proline metabolism
    Tyrosine metabolism
    Phenylalanine metabolism


    GOT2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GOT2

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

    5/113 Interacting proteins for GOT2 (P005052, 3 ENSP000002452064) via UniProtKB, MINT, STRING, and/or I2D (see all 113)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    THOC7Q6I9Y22, 3, ENSP000002958994MINT-63341 I2D: score=5 STRING: ENSP00000295899
    GAPDHP044062, 3, ENSP000002292394MINT-8256338 I2D: score=2 STRING: ENSP00000229239
    GLRXP357542, 3, ENSP000002378584MINT-8256514 I2D: score=2 STRING: ENSP00000237858
    ENSG00000206435P305043I2D: score=1 
    ENSG00000206452P305043I2D: score=1 
    About this table

    Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006006glucose metabolic process TAS--
    GO:0006094gluconeogenesis TAS--
    GO:00061032-oxoglutarate metabolic process ISS--
    GO:0006107oxaloacetate metabolic process IEA--


    GOT2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for GOT2

    10/16 HMDB Compounds for GOT2 (see all 16)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Mercaptopyruvic acid3-Mercaptopyruvate (see all 13)2464-23-5--
    3-Sulfinoalanine3-Sulphino-L-alanine (see all 9)1115-65-7--
    3-Sulfinylpyruvic acid3-Sulfinopyruvate (see all 5)----
    3-Sulfopyruvic acid3-sulfopyruvate (see all 8)98022-26-5--
    4-Hydroxyphenylpyruvic acid(p-Hydroxyphenyl)pyruvate (see all 25)156-39-8--
    Cysteic acid2-Amino-3-sulfopropionate (see all 19)498-40-8--
    FamotidineAmfamox (see all 83)76824-35-6--
    L-Aspartic acid(+)-Aspartate (see all 41)56-84-8--
    L-Cysteine(+)-2-Amino-3-mercaptopropionic acid (see all 37)52-90-4--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--

    4 DrugBank Compounds for GOT2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Aspartic Acid(+)-Aspartic acid (see all 23)56-84-8target--261660 823072 17139284 17016423 4404056 10592235
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--261660 17139284 17016423 10592235
    4'-Deoxy-4'-Acetylyamino-Pyridoxal-5'-Phosphate-- --target--17139284 17016423 10592235
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor236311 17139284 17016423

    Search CenterWatch for drugs/clinical trials and news about GOT2 / AATM 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GOT2 gene: 
    NM_002080.2  

    Unigene Cluster for GOT2:

    Glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)
    Hs.599470  [show with all ESTs]
    Unigene Representative Sequence: NM_002080
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000245206(uc002eof.1 uc010vim.1) ENST00000434819 ENST00000494627
    ENST00000564400 ENST00000496461 ENST00000568368 ENST00000492378

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    hsa-miR-320a hsa-miR-30c hsa-miR-181c hsa-miR-4318 hsa-miR-139-5p hsa-miR-30d hsa-miR-30a hsa-miR-181b
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    Additional cDNA sequence: 

    AK098313.1 AK223271.1 AK290847.1 AK295993.1 AK302249.1 AK307598.1 AL360255.1 BC000525.2 
    M22632.1 

    24/29 DOTS entries (see all 29):

    DT.455985  DT.100876934  DT.100876949  DT.91936864  DT.95278326  DT.100876935  DT.97767200  DT.100876950 
    DT.120667140  DT.100876956  DT.100657705  DT.100876943  DT.120667221  DT.100876942  DT.100876958  DT.100876944 
    DT.100876952  DT.100876959  DT.120667118  DT.95278348  DT.100876957  DT.120667201  DT.40263483  DT.92464482 

    24/954 AceView cDNA sequences (see all 954):

    AU141910 BM670567 BQ774223 BQ438991 CR600716 BU147193 AI424550 BQ226416 
    BP363403 BG500799 AA082148 BU557059 AA344106 BU845099 BC000525 BU146584 
    BG616227 AU141309 BF220124 BQ892745 AA738438 AI244983 CR612588 BQ958976 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for GOT2 (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for GOT2

    (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

    GOT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAGACTTATT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    GOT2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Skeletal MuscleHyoid Arch MusclesMononuclear MyocytesSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMononuclear MyocytesSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See GOT2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GOT2

    SOURCE GeneReport for Unigene cluster: Hs.599470
        SABiosciences Expression via Pathway-Focused PCR Array including GOT2: 
              Amino Acid Metabolism I in human mouse rat

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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 last universal common ancestor (LUCA).

    Orthologs for GOT2 gene from 9/40 species (see all 40)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves GOT21 glutamic-oxaloacetic transaminase 2, mitochondrial more 78.43(n)
    86.03(a)
      396533  NM_205523.1  NP_990854.1 
    lizard
    (Anolis carolinensis)
    Reptilia GOT26
    --
    85(a)
    1 ↔ 1
    GL343539.1(423522-438384)
    African clawed frog
    (Xenopus laevis)
    Amphibia got2-prov2 glutamate oxaloacetate transaminase 2 76.59(n)    BC056110.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb64g012 Danio rerio cDNA clone MGC66329 IMAGE5602691, complete more 76.77(n)    BC054684.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG42333
    Got21
    aspartate aminotransferase3
    Glutamate oxaloacetate transaminase 21
    63(a)
    (best of 2)3
    63.33(n)1
    63.66(a)1
      22B83
    333731  NM_164445.31  NP_722744.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C44E4.33
    got-2.21
    aminotransferase3
    Protein GOT-2.21
    58(a)
    (best of 2)3
    63.79(n)1
    69.46(a)1
      I(4637394-4639062)3
    1808971  NM_171702.31  NP_741810.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ASP11 aspartate aminotransferase 58.81(n)
    57.64(a)
      817648  NM_128651.4  NP_180654.1 
    rice
    (Oryza sativa)
    Liliopsida Os.47722 Oryza sativa (japonica cultivar-group) mRNA for aspartate more 74.31(n)    AK101008.1 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria aspC6
    tyrB6
    aspartate aminotransferase, PLP-dependent
    tyrosine aminotransferase, tyrosine-repressible, P...
    41(a)
    40(a)
    many ↔ many
    many ↔ many
    Chromosome(983742-984932)
    Chromosome(4265137-4266330)


    ENSEMBL Gene Tree for GOT2 (if available)
    TreeFam Gene Tree for GOT2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GOT2 gene
    GOT12  GOT1L12  
    3 SIMAP similar genes for GOT2 using alignment to 3 protein entries:     AATM_HUMAN (see all proteins):
    GOT1    GIG18    GOT1L1

    GOT2 for paralogs           About GeneDecksing


    5/7 Pseudogenes.org Pseudogenes for GOT2 (see all 7)
    PGOHUM00000239664 PGOHUM00000239689 PGOHUM00000244339 PGOHUM00000244732 PGOHUM00000241187


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/601 NCBI SNPs in GOT2 are shown (see all 601    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1147844971,2
    F,--58740537(+) CAGATC/GAACCA 1 -- ds50011Minor allele frequency- G:0.04WA 118
    rs1898406021,2
    --58740574(+) GAAAAA/GTGTAA 1 -- ds50010--------
    rs1504901041,2
    --58740576(+) AAAATA/GTAAGA 1 -- ds50010--------
    rs1831557441,2
    --58740608(+) CCTCAC/TAGCTC 1 -- ds50010--------
    rs1383257321,2
    --58740634(+) TGCTCC/TTCAAT 1 -- ds50010--------
    rs1429975871,2
    --58740704(+) ATTTAC/TGTTAC 1 -- ds50010--------
    rs1889552081,2
    --58740730(+) AGACCA/CCTGAA 1 -- ds50010--------
    rs1917929961,2
    --58740731(+) GACCAC/TTGAAG 1 -- ds50010--------
    rs1114715771,2
    C,--58740746(+) CACTTCTC/-CTCCA 1 -- ds50011Minor allele frequency- -:0.50CSA 2
    rs735492711,2
    C,--58740772(+) TTGCCT/CATATC 1 -- ds50012Minor allele frequency- C:0.20WA 120

    HapMap Linkage Disequilibrium report for GOT2 (58741035 - 58768261 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for GOT2
         1 CNV: 4008

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    (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

    GOT2 for disorders           About GeneDecksing

    OMIM gene information: 138150    OMIM disorders: --

    20/29 diseases for GOT2 (see all 29):    About MalaCards
    type 2 diabetes mellitus    substance abuse    myocardial infarction    acute myocardial infarction
    reye syndrome    diabetes mellitus    fascioliasis    hepatitis a
    intestinal disease    gallbladder disease    leukopenia    autoimmune hepatitis
    cholangitis    schistosomiasis    hepatitis c    periodontal disease
    cholestasis    brain disease    hypercholesterolemia    hepatitis b

    20/23 diseases from the University of Copenhagen DISEASES database for GOT2 (see all 23):
    Liver disease     Fatty liver disease     Hepatitis B     Cholestasis
    Vascular disease     Hepatitis C     Diabetes mellitus     Myocardial infarction
    Hepatocellular carcinoma     Thrombocytopenia     Cholangitis     Autoimmune hepatitis
    Bilirubin metabolic disorder     Diarrhea     Hepatitis A     Substance abuse
    Kidney disease     Leukopenia     Fascioliasis     Myopathy
    Human Genome Epidemiology (HuGE) Navigator: GOT2 (2 documents)

    Export disorders for GOT2 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 GOT2 gene, integrated from 9 sources (see all 55):
    (articles sorted by number of sources associating them with GOT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mitochondrial aspartate aminotransferase: a third kynurenate-producing enzyme in the mammalian brain. (PubMed id 17442055)1, 3 Guidetti P....Schwarcz R. (2007)
    2. 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)
    3. Ethanol up-regulates fatty acid uptake and plasma membrane expression and export of mitochondrial aspartate aminotransferase in HepG2 cells. (PubMed id 9537447)1, 2 Zhou S.L.... Berk P.D. (1998)
    4. Nucleotide sequence and tissue distribution of the human mitochondrial aspartate aminotransferase mRNA. (PubMed id 3207426)1, 2 Pol S.... Barouki R. (1988)
    5. The primary structure of mitochondrial aspartate aminotransferase from human heart. (PubMed id 4052435)1, 2 Martini F.... Bossa F. (1985)
    6. Solution structure and backbone dynamics of human live r fatty acid binding protein: fatty acid binding revisited. (PubMed id 22713574)1 Cai J....Hamilton J.A. (2012)
    7. An important role for CDK2 in G1 to S checkpoint activation and DNA damage response in human embryonic stem cells. (PubMed id 21319273)1 Neganova I....Lako M. (2011)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    10. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)

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

      Query String
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    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: 2806 HGNC: 4433 AceView: GOT2 Ensembl:ENSG00000125166 euGenes: HUgn2806
    ECgene: GOT2 Kegg: 2806 H-InvDB: GOT2

    (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 GOT2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GOT2 gene:
    Search GeneIP for patents involving GOT2

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



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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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