Human Gene GOT2 (uc002eof.1)
  Description: Homo sapiens glutamic-oxaloacetic transaminase 2, mitochondrial (GOT2), nuclear gene encoding mitochondrial protein, mRNA.
RefSeq Summary (NM_002080): 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].
Transcript (Including UTRs)
   Position: hg19 chr16:58,741,035-58,768,246 Size: 27,212 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr16:58,742,075-58,768,132 Size: 26,058 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:58,741,035-58,768,246)mRNA (may differ from genome)Protein (430 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AATM_HUMAN
DESCRIPTION: RecName: Full=Aspartate aminotransferase, mitochondrial; Short=mAspAT; EC=2.6.1.1; EC=2.6.1.7; AltName: Full=Fatty acid-binding protein; Short=FABP-1; AltName: Full=Glutamate oxaloacetate transaminase 2; AltName: Full=Kynurenine aminotransferase 4; AltName: Full=Kynurenine aminotransferase IV; AltName: Full=Kynurenine--oxoglutarate transaminase 4; AltName: Full=Kynurenine--oxoglutarate transaminase IV; AltName: Full=Plasma membrane-associated fatty acid-binding protein; Short=FABPpm; AltName: Full=Transaminase A; Flags: Precursor;
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.
COFACTOR: Pyridoxal phosphate.
SUBUNIT: Homodimer.
SUBCELLULAR LOCATION: Mitochondrion matrix. Cell membrane. Note=Exposure to alcohol promotes translocation to the cell membrane.
INDUCTION: Up-regulated by long-time exposure to alcohol.
MISCELLANEOUS: In eukaryotes there are cytoplasmic, mitochondrial and chloroplastic isozymes.
SIMILARITY: Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): GOT2
CDC HuGE Published Literature: GOT2
Positive Disease Associations: Aorta , QT interval
Related Studies:
  1. Aorta
    Nathan E Wineinger et al. BMC medical genomics 2011, Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study., BMC medical genomics. [PubMed 21223598]
    The regions we discovered are candidates for future studies on cardiovascular outcomes, particularly in African Americans. The methods we employed can also provide an outline for genetic researchers interested in jointly testing SNP and CNV effects and/or applying mixed model procedures on a genome-wide scale.
  2. QT interval
    Newton-Cheh ,et al. 2009, Common variants at ten loci influence QT interval duation in the QTGEN Study, Nature genetics 2009 41- 4 : 399-406. [PubMed 19305408]

-  MalaCards Disease Associations
  MalaCards Gene Search: GOT2
Diseases sorted by gene-association score: acute vascular insufficiency of intestine (2), coenurosis (1), histidinemia (1), histidine metabolism disease (1), pleomorphic lipoma (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 174.36 RPKM in Heart - Left Ventricle
Total median expression: 2236.49 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -32.10114-0.282 Picture PostScript Text
3' UTR -311.781040-0.300 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004839 - Aminotransferase_I/II
IPR000796 - Asp_trans
IPR004838 - NHTrfase_class1_PyrdxlP-BS
IPR015424 - PyrdxlP-dep_Trfase_major_dom
IPR015421 - PyrdxlP-dep_Trfase_major_sub1

Pfam Domains:
PF00155 - Aminotransferase class I and II

SCOP Domains:
53383 - PLP-dependent transferases

ModBase Predicted Comparative 3D Structure on P00505
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsemblFlyBaseWormBase 
 Protein SequenceProtein SequenceProtein SequenceProtein Sequence 
 AlignmentAlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0003824 catalytic activity
GO:0004069 L-aspartate:2-oxoglutarate aminotransferase activity
GO:0005543 phospholipid binding
GO:0008483 transaminase activity
GO:0016212 kynurenine-oxoglutarate transaminase activity
GO:0016597 amino acid binding
GO:0016740 transferase activity
GO:0019899 enzyme binding
GO:0030170 pyridoxal phosphate binding
GO:0031406 carboxylic acid binding
GO:0042803 protein homodimerization activity
GO:0047578 4-hydroxyglutamate transaminase activity

Biological Process:
GO:0006094 gluconeogenesis
GO:0006103 2-oxoglutarate metabolic process
GO:0006107 oxaloacetate metabolic process
GO:0006520 cellular amino acid metabolic process
GO:0006531 aspartate metabolic process
GO:0006532 aspartate biosynthetic process
GO:0006533 aspartate catabolic process
GO:0006536 glutamate metabolic process
GO:0006869 lipid transport
GO:0007565 female pregnancy
GO:0007595 lactation
GO:0008652 cellular amino acid biosynthetic process
GO:0009058 biosynthetic process
GO:0014850 response to muscle activity
GO:0015908 fatty acid transport
GO:0019470 4-hydroxyproline catabolic process
GO:0019550 glutamate catabolic process to aspartate
GO:0019551 glutamate catabolic process to 2-oxoglutarate
GO:0032868 response to insulin
GO:0043278 response to morphine
GO:0043648 dicarboxylic acid metabolic process
GO:0045471 response to ethanol
GO:0046487 glyoxylate metabolic process
GO:0097052 L-kynurenine metabolic process

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005759 mitochondrial matrix
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0030315 T-tubule
GO:0032991 macromolecular complex
GO:0042383 sarcolemma
GO:0043204 perikaryon
GO:0043209 myelin sheath
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC000525 - Homo sapiens glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2), mRNA (cDNA clone MGC:8599 IMAGE:2961181), complete cds.
M22632 - Human mitochondrial aspartate aminotransferase mRNA, complete cds.
AK098313 - Homo sapiens cDNA FLJ40994 fis, clone UTERU2015640, highly similar to Aspartate aminotransferase, mitochondrial precursor (EC 2.6.1.1).
JD342582 - Sequence 323606 from Patent EP1572962.
AK223271 - Homo sapiens mRNA for aspartate aminotransferase 2 precursor variant, clone: STM08437.
JD535486 - Sequence 516510 from Patent EP1572962.
JD419355 - Sequence 400379 from Patent EP1572962.
JD459217 - Sequence 440241 from Patent EP1572962.
JD236658 - Sequence 217682 from Patent EP1572962.
JD071627 - Sequence 52651 from Patent EP1572962.
JD444500 - Sequence 425524 from Patent EP1572962.
JD532721 - Sequence 513745 from Patent EP1572962.
AK295993 - Homo sapiens cDNA FLJ55692 complete cds, highly similar to Aspartate aminotransferase, mitochondrial precursor (EC 2.6.1.1).
JD292291 - Sequence 273315 from Patent EP1572962.
AK290847 - Homo sapiens cDNA FLJ78439 complete cds, highly similar to Homo sapiens glutamic-oxaloacetic transaminase 2.
JD098610 - Sequence 79634 from Patent EP1572962.
JD080757 - Sequence 61781 from Patent EP1572962.
JD563918 - Sequence 544942 from Patent EP1572962.
JD274227 - Sequence 255251 from Patent EP1572962.
JD078042 - Sequence 59066 from Patent EP1572962.
JD558490 - Sequence 539514 from Patent EP1572962.
AK302249 - Homo sapiens cDNA FLJ54203 complete cds, highly similar to Aspartate aminotransferase, mitochondrial precursor (EC 2.6.1.1).
JD440989 - Sequence 422013 from Patent EP1572962.
DQ891883 - Synthetic construct clone IMAGE:100004513; FLH180907.01X; RZPDo839H04134D glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) (GOT2) gene, encodes complete protein; nuclear gene for mitochondrial product.
LF360003 - JP 2014500723-A/167506: Polycomb-Associated Non-Coding RNAs.
KJ896907 - Synthetic construct Homo sapiens clone ccsbBroadEn_06301 GOT2 gene, encodes complete protein.
DQ895068 - Synthetic construct Homo sapiens clone IMAGE:100009528; FLH180903.01L; RZPDo839H04133D glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) (GOT2) gene, encodes complete protein; nuclear gene for mitochondrial product.
AK307598 - Homo sapiens cDNA, FLJ97546.
CU674254 - Synthetic construct Homo sapiens gateway clone IMAGE:100018272 5' read GOT2 mRNA.
LF208248 - JP 2014500723-A/15751: Polycomb-Associated Non-Coding RNAs.
JD365108 - Sequence 346132 from Patent EP1572962.
LF373912 - JP 2014500723-A/181415: Polycomb-Associated Non-Coding RNAs.
MA595580 - JP 2018138019-A/167506: Polycomb-Associated Non-Coding RNAs.
MA443825 - JP 2018138019-A/15751: Polycomb-Associated Non-Coding RNAs.
MA609489 - JP 2018138019-A/181415: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00250 - Alanine, aspartate and glutamate metabolism
hsa00270 - Cysteine and methionine metabolism
hsa00330 - Arginine and proline metabolism
hsa00350 - Tyrosine metabolism
hsa00360 - Phenylalanine metabolism
hsa00400 - Phenylalanine, tyrosine and tryptophan biosynthesis
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
ASPBIO-PWY - aspartate biosynthesis
GLUTFUMARATE-PWY - glutamine degradation II
GLUTOXA-PWY - glutamate degradation VII
MALATE-ASPARTATE-SHUTTLE-PWY - aspartate degradation II

Reactome (by CSHL, EBI, and GO)

Protein P00505 (Reactome details) participates in the following event(s):

R-HSA-70596 aspartate + alpha-ketoglutarate <=> oxaloacetate + glutamate [GOT2]
R-HSA-70613 oxaloacetate + glutamate <=> aspartate + alpha-ketoglutarate [GOT2]
R-HSA-6784393 PXLP-K279-GOT2 dimer transaminates 4-OH-L-glutamate to 4-hydroxy-2-oxoglutarate (HOG)
R-HSA-9012597 GOT2 dimer transfers amino group from L-Cys to 2OG to form 3MPYR and Glu
R-HSA-70614 Amino acid synthesis and interconversion (transamination)
R-HSA-70263 Gluconeogenesis
R-HSA-389661 Glyoxylate metabolism and glycine degradation
R-HSA-1614558 Degradation of cysteine and homocysteine
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-70326 Glucose metabolism
R-HSA-1614635 Sulfur amino acid metabolism
R-HSA-1430728 Metabolism
R-HSA-71387 Metabolism of carbohydrates

-  Other Names for This Gene
  Alternate Gene Symbols: AATM_HUMAN, NM_002080, NP_002071, P00505, Q53FL3, Q9BWA3
UCSC ID: uc002eof.1
RefSeq Accession: NM_002080
Protein: P00505 (aka AATM_HUMAN)
CCDS: CCDS10801.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_002080.2
exon count: 10CDS single in 3' UTR: no RNA size: 2473
ORF size: 1293CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2786.00frame shift in genome: no % Coverage: 98.95
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.