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    GOT2 glutamic-oxaloacetic transaminase 2 [ Homo sapiens (human) ]

    Gene ID: 2806, updated on 10-Dec-2024

    Summary

    Official Symbol
    GOT2provided by HGNC
    Official Full Name
    glutamic-oxaloacetic transaminase 2provided by HGNC
    Primary source
    HGNC:HGNC:4433
    See related
    Ensembl:ENSG00000125166 MIM:138150; AllianceGenome:HGNC:4433
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KAT4; DEE82; KATIV; KYAT4; mitAAT
    Summary
    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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
    Expression
    Broad expression in heart (RPKM 129.5), liver (RPKM 91.0) and 24 other tissues See more
    Orthologs
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    Genomic context

    See GOT2 in Genome Data Viewer
    Location:
    16q21
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (58707131..58734316, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (64499639..64526824, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (58741035..58768220, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene CCR4-NOT transcription complex subunit 1 Neighboring gene uncharacterized LOC124903804 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:58662807-58663483 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:58663484-58664159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10933 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:58718046-58718890 Neighboring gene solute carrier family 38 member 7 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:58732240-58732406 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:58733934-58734162 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:58751959-58753158 Neighboring gene Sharpr-MPRA regulatory region 2773 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7555 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7556 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:58767947-58768565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:58780350-58780850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:58780851-58781351 Neighboring gene uncharacterized LOC107984867 Neighboring gene RNA, U6 small nuclear 1155, pseudogene Neighboring gene Sharpr-MPRA regulatory region 6563 Neighboring gene RNY5 pseudogene 9 Neighboring gene RNA, 7SL, cytoplasmic 143, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (161 hits/1275 screens)

    Associated conditions

    Description Tests
    Developmental and epileptic encephalopathy, 82
    MedGen: C5231473 OMIM: 618721 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Common variants at ten loci influence QT interval duration in the QTGEN Study.
    EBI GWAS Catalog
    Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • FLJ40994

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in 2-oxoglutarate metabolic process  
    involved_in 4-hydroxyproline catabolic process PubMed 
    involved_in aspartate biosynthetic process  
    involved_in aspartate catabolic process  
    involved_in aspartate catabolic process PubMed 
    involved_in aspartate metabolic process  
    involved_in fatty acid transport PubMed 
    involved_in glutamate catabolic process to aspartate  
    involved_in glutamate metabolic process  
    involved_in malate-aspartate shuttle PubMed 
    involved_in oxaloacetate metabolic process  
    involved_in response to ethanol PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome PubMed 
    located_in mitochondrial matrix  
    located_in mitochondrion PubMed 
    located_in mitochondrion PubMed 
    is_active_in mitochondrion  
    located_in mitochondrion PubMed 
    located_in mitochondrion  
    located_in plasma membrane PubMed 

    General protein information

    Preferred Names
    aspartate aminotransferase, mitochondrial
    Names
    FABP-1
    FABPpm
    aspartate aminotransferase 2
    aspartate transaminase 2
    fatty acid-binding protein
    glutamate oxaloacetate transaminase 2
    glutamic-oxaloacetic transaminase 2, mitochondrial
    kynurenine aminotransferase 4
    kynurenine aminotransferase IV
    kynurenine--oxoglutarate transaminase 4
    kynurenine--oxoglutarate transaminase IV
    mAspAT
    plasma membrane-associated fatty acid-binding protein
    transaminase A
    NP_001273149.1
    NP_002071.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001286220.2 → NP_001273149.1  aspartate aminotransferase, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC012183, AK295993, BC000525, DB485399
      Consensus CDS
      CCDS67045.1
      UniProtKB/TrEMBL
      A8K482
      Related
      ENSP00000394100.2, ENST00000434819.2
      Conserved Domains (2) summary
      pfam00155
      Location:57 → 382
      Aminotran_1_2; Aminotransferase class I and II
      cl18945
      Location:32 → 387
      AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
    2. NM_002080.4 → NP_002071.2  aspartate aminotransferase, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_002071.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC012183, BC000525, DB485399
      Consensus CDS
      CCDS10801.1
      UniProtKB/Swiss-Prot
      B4DJA6, E7ERW2, P00505, Q53FL3, Q9BWA3
      UniProtKB/TrEMBL
      A8K482
      Related
      ENSP00000245206.5, ENST00000245206.10
      Conserved Domains (2) summary
      PLN02397
      Location:32 → 430
      PLN02397; aspartate transaminase
      pfam00155
      Location:57 → 425
      Aminotran_1_2; Aminotransferase class I and II

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      58707131..58734316 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      64499639..64526824 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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