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

Gene ID: 2806, updated on 28-Nov-2021

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
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
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (58707131..58734316, complement)
105.20201022 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 transmembrane protein 254 pseudogene Neighboring gene solute carrier family 38 member 7 Neighboring gene Sharpr-MPRA regulatory region 2773 Neighboring gene uncharacterized LOC107984867 Neighboring gene RNA, U6 small nuclear 1155, pseudogene Neighboring gene RNY5 pseudogene 9 Neighboring gene RNA, 7SL, cytoplasmic 143, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Common variants at ten loci influence QT interval duration in the QTGEN Study.
GeneReviews: Not available
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82
MedGen: C5231473 OMIM: 618721 GeneReviews: Not available
Compare labs
Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ40994

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in 2-oxoglutarate metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in 4-hydroxyproline catabolic process TAS
Traceable Author Statement
more info
PubMed 
involved_in L-kynurenine metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in aspartate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in aspartate catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in aspartate catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in aspartate metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in fatty acid transport IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in glutamate catabolic process to 2-oxoglutarate IEA
Inferred from Electronic Annotation
more info
 
involved_in glutamate catabolic process to aspartate IEA
Inferred from Electronic Annotation
more info
 
involved_in glutamate metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in oxaloacetate metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in response to ethanol IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
located_in mitochondrion HDA PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
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)

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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_001286220.2NP_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/Swiss-Prot
    P00505
    Related
    ENSP00000394100.2, ENST00000434819.2
    Conserved Domains (2) summary
    pfam00155
    Location:57382
    Aminotran_1_2; Aminotransferase class I and II
    cl18945
    Location:32387
    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_002080.4NP_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
    P00505
    Related
    ENSP00000245206.5, ENST00000245206.10
    Conserved Domains (2) summary
    PLN02397
    Location:32430
    PLN02397; aspartate transaminase
    pfam00155
    Location:57425
    Aminotran_1_2; Aminotransferase class I and II

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

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