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 fo... See more...

Aliases for GOT2 Gene

Aliases for GOT2 Gene

  • Glutamic-Oxaloacetic Transaminase 2 2 3 5
  • Kynurenine Aminotransferase IV 2 3 4
  • Plasma Membrane-Associated Fatty Acid-Binding Protein 3 4
  • Glutamic-Oxaloacetic Transaminase 2, Mitochondrial 2 3
  • Aspartate Aminotransferase, Mitochondrial 3 4
  • Kynurenine--Oxoglutarate Transaminase IV 3 4
  • Kynurenine--Oxoglutarate Transaminase 4 3 4
  • Glutamate Oxaloacetate Transaminase 2 3 4
  • Kynurenine Aminotransferase 4 3 4
  • Aspartate Aminotransferase 2 2 3
  • Fatty Acid-Binding Protein 3 4
  • Aspartate Transaminase 2 2 3
  • Transaminase A 3 4
  • EC 2.6.1.1 4 51
  • MitAAT 2 3
  • FABP-1 3 4
  • FABPpm 3 4
  • MAspAT 3 4
  • KATIV 2 3
  • KYAT4 2 3
  • KAT4 2 3
  • Glutamic-Oxaloacetic Transaminase 2, Mitochondrial (Aspartate Aminotransferase 2) 2
  • EC 2.6.1.7 4
  • EC 2.6.1 51
  • GOT2 5

External Ids for GOT2 Gene

Previous GeneCards Identifiers for GOT2 Gene

  • GC16M049137
  • GC16M058827
  • GC16M058475
  • GC16M058516
  • GC16M057298
  • GC16M058741
  • GC16M044606

Summaries for GOT2 Gene

Entrez Gene Summary for GOT2 Gene

  • 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]

GeneCards Summary for GOT2 Gene

GOT2 (Glutamic-Oxaloacetic Transaminase 2) is a Protein Coding gene. Diseases associated with GOT2 include Epileptic Encephalopathy, Early Infantile, 82 and Acute Vascular Insufficiency Of Intestine. Among its related pathways are Glucose metabolism and Tyrosine metabolism. Gene Ontology (GO) annotations related to this gene include kynurenine-oxoglutarate transaminase activity. An important paralog of this gene is GOT1.

UniProtKB/Swiss-Prot Summary for GOT2 Gene

  • Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). As a member of the malate-aspartate shuttle, it has a key role in the intracellular NAD(H) redox balance. Is important for metabolite exchange between mitochondria and cytosol, and for amino acid metabolism. Facilitates cellular uptake of long-chain free fatty acids.

Gene Wiki entry for GOT2 Gene

Additional gene information for GOT2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GOT2 Gene

Genomics for GOT2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GOT2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GOT2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GOT2

Top Transcription factor binding sites by QIAGEN in the GOT2 gene promoter:
  • AREB6
  • FOXJ2
  • FOXJ2 (long isoform)
  • GATA-2
  • MIF-1
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • POU2F1a
  • SRY

Genomic Locations for GOT2 Gene

Genomic Locations for GOT2 Gene
chr16:58,707,131-58,734,342
(GRCh38/hg38)
Size:
27,212 bases
Orientation:
Minus strand
chr16:58,741,035-58,768,261
(GRCh37/hg19)
Size:
27,227 bases
Orientation:
Minus strand

Genomic View for GOT2 Gene

Genes around GOT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GOT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GOT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GOT2 Gene

Proteins for GOT2 Gene

  • Protein details for GOT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00505-AATM_HUMAN
    Recommended name:
    Aspartate aminotransferase, mitochondrial
    Protein Accession:
    P00505
    Secondary Accessions:
    • B4DJA6
    • E7ERW2
    • Q53FL3
    • Q9BWA3

    Protein attributes for GOT2 Gene

    Size:
    430 amino acids
    Molecular mass:
    47518 Da
    Cofactor:
    Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • In eukaryotes there are cytoplasmic, mitochondrial and chloroplastic isozymes.

    Three dimensional structures from OCA and Proteopedia for GOT2 Gene

    Alternative splice isoforms for GOT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GOT2 Gene

Selected DME Specific Peptides for GOT2 Gene

P00505:
  • LDKEYLP
  • EAKRVESQLKILIRP
  • DPILGVT
  • AYQGFASG
  • HITDQIGMF
  • MGPPDPI
  • SVRKAEAQ
  • RHFIEQGI
  • NLGVGAYR
  • TVQTISGTG
  • ADEAKRV
  • QLVSNLKKEGS
  • YSNPPLNGARIA
  • AFHPGLAAAASARASSWW
  • QSYAKNMGLYGER
  • GTGALRIGA
  • DISKIPEQS
  • FLQRFFKFSRDV
  • CAHNPTG

Post-translational modifications for GOT2 Gene

  • Ubiquitination at Lys122 and Lys396
  • Modification sites at PhosphoSitePlus

Other Protein References for GOT2 Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for GOT2

Domains & Families for GOT2 Gene

Gene Families for GOT2 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transporters

Protein Domains for GOT2 Gene

InterPro:
Blocks:
  • Aminotransferase, class I and II
  • Aspartate aminotransferase signature
  • Aminotransferase, class-I
ProtoNet:

Suggested Antigen Peptide Sequences for GOT2 Gene

GenScript: Design optimal peptide antigens:
  • Transaminase A (AATM_HUMAN)
  • cDNA FLJ54203, highly similar to Aspartate aminotransferase, mitochondrial (EC 2.6.1.1) (B4DY39_HUMAN)
  • Aspartate aminotransferase (E7ERW2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P00505

UniProtKB/Swiss-Prot:

AATM_HUMAN :
  • Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family.
Family:
  • Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family.
genes like me logo Genes that share domains with GOT2: view

Function for GOT2 Gene

Molecular function for GOT2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). As a member of the malate-aspartate shuttle, it has a key role in the intracellular NAD(H) redox balance. Is important for metabolite exchange between mitochondria and cytosol, and for amino acid metabolism. Facilitates cellular uptake of long-chain free fatty acids.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + L-aspartate = L-glutamate + oxaloacetate; Xref=Rhea:RHEA:21824, ChEBI:CHEBI:16452, ChEBI:CHEBI:16810, ChEBI:CHEBI:29985, ChEBI:CHEBI:29991; EC=2.6.1.1; Evidence={ECO:0000269|PubMed:26902786, ECO:0000269|PubMed:31422819};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + L-kynurenine = 4-(2-aminophenyl)-2,4-dioxobutanoate + L-glutamate; Xref=Rhea:RHEA:20964, ChEBI:CHEBI:16810, ChEBI:CHEBI:29985, ChEBI:CHEBI:57959, ChEBI:CHEBI:58147; EC=2.6.1.7;.
UniProtKB/Swiss-Prot Induction:
Up-regulated by long-time exposure to alcohol.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 8.5. {ECO:0000269|PubMed:26902786}; Temperature dependence: Optimum temperature is 47.5 degrees Celsius. {ECO:0000269|PubMed:26902786};
GENATLAS Biochemistry:
glutamic-oxaloacetic transaminase 2,mitochondrial (aspartate aminotransferase 1)

Enzyme Numbers (IUBMB) for GOT2 Gene

Phenotypes From GWAS Catalog for GOT2 Gene

Gene Ontology (GO) - Molecular Function for GOT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22681889
GO:0003824 catalytic activity IEA --
GO:0004069 L-aspartate:2-oxoglutarate aminotransferase activity IBA,ISS --
GO:0005543 phospholipid binding IEA --
GO:0008483 transaminase activity IEA --
genes like me logo Genes that share ontologies with GOT2: view
genes like me logo Genes that share phenotypes with GOT2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GOT2

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GOT2 Gene

Localization for GOT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GOT2 Gene

Mitochondrion matrix. Cell membrane. Note=Exposure to alcohol promotes translocation to the cell membrane. {ECO:0000269 PubMed:9537447}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GOT2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
mitochondrion 5
peroxisome 3
cytosol 3
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
lysosome 2
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GOT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA,ISS --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0005886 plasma membrane IEA,IDA 9537447
GO:0009986 cell surface IEA --
genes like me logo Genes that share ontologies with GOT2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GOT2 Gene

Pathways & Interactions for GOT2 Gene

genes like me logo Genes that share pathways with GOT2: view

Gene Ontology (GO) - Biological Process for GOT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006094 gluconeogenesis TAS --
GO:0006103 2-oxoglutarate metabolic process ISS --
GO:0006107 oxaloacetate metabolic process IEA --
GO:0006520 cellular amino acid metabolic process IEA --
GO:0006531 aspartate metabolic process ISS --
genes like me logo Genes that share ontologies with GOT2: view

No data available for SIGNOR curated interactions for GOT2 Gene

Drugs & Compounds for GOT2 Gene

(15) Drugs for GOT2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspartic acid Approved Nutra Target 182
Cysteine Approved Nutra Target, substrate 250
Glutamic acid Approved Nutra Agonist, Full agonist, Target 304
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 16
Famotidine Approved Pharma Histamine H2-receptor antagonist 82

(7) Additional Compounds for GOT2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Mercaptopyruvic acid
  • 3-mercapto-2-Oxopropanoic acid
  • 3-Mercaptopyruvate
  • Mercaptopyruvate
  • 3-mercapto-2-Oxopropanoate
  • Mercaptopyruvic acid
2464-23-5
4-(2-Aminophenyl)-2,4-dioxobutanoic acid
  • 4-(2-Aminophenyl)-2,4-dioxobutanoate
  • 4-(2-Aminophenyl)-2,4-dioxo-butanoate
  • 4-(2-Aminophenyl)-2,4-dioxo-butanoic acid
4-Hydroxy-L-glutamic acid
  • beta-Hydroxyglutamate
  • beta-Hydroxyglutamic acid
  • erythro-L-BHGA
  • Hydroxyglutamic acid, (DL)-isomer
  • Hydroxyglutamic acid, erythro-(DL)-isomer
2485-33-8
B-Sulfinyl pyruvate
  • 3-Sulfinopyruvate
  • 3-Sulfinylpyruvate
  • 3-Sulfinopyruvic acid
  • 3-Sulphinopyruvate
  • 3-Sulphinopyruvic acid
88947-38-0
D-4-Hydroxy-2-oxoglutarate
  • (R)-2-Hydroxy-4-ketopentanedioic acid
  • (R)-2-Hydroxy-4-oxopentanedioic acid
  • D-4-Hydroxy-2-ketoglutaric acid
  • (R)-2-Hydroxy-4-ketopentanedioate
  • D-4-Hydroxy-2-oxoglutaric acid
genes like me logo Genes that share compounds with GOT2: view

Transcripts for GOT2 Gene

mRNA/cDNA for GOT2 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GOT2

Alternative Splicing Database (ASD) splice patterns (SP) for GOT2 Gene

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: - -
SP6: - - -
SP7:

Relevant External Links for GOT2 Gene

GeneLoc Exon Structure for
GOT2

Expression for GOT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GOT2 Gene

mRNA differential expression in normal tissues according to GTEx for GOT2 Gene

This gene is overexpressed in Heart - Left Ventricle (x6.1) and Muscle - Skeletal (x5.5).

Protein differential expression in normal tissues from HIPED for GOT2 Gene

This gene is overexpressed in Liver, secretome (20.2) and Heart (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GOT2 Gene



Protein tissue co-expression partners for GOT2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GOT2

SOURCE GeneReport for Unigene cluster for GOT2 Gene:

Hs.599470

Evidence on tissue expression from TISSUES for GOT2 Gene

  • Heart(5)
  • Nervous system(5)
  • Liver(4.9)
  • Muscle(4.9)
  • Stomach(4.6)
  • Kidney(4.5)
  • Intestine(4.4)
  • Lung(4.4)
  • Skin(4.3)
  • Eye(3.8)
  • Blood(3.3)
  • Spleen(2.9)
  • Pancreas(2.8)
  • Lymph node(2.6)
  • Adrenal gland(2.6)
  • Thyroid gland(2.6)
  • Urine(2.4)
  • Gall bladder(2.4)
  • Bone marrow(2.3)
genes like me logo Genes that share expression patterns with GOT2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GOT2 Gene

Orthologs for GOT2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GOT2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GOT2 30 31
  • 99.38 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GOT2 31
  • 95 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GOT2 31
  • 92 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia GOT2 30
  • 90.78 (n)
-- 31
  • 84 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia GOT2 30 31
  • 90 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Got2 30 17 31
  • 88.76 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Got2 30
  • 88.29 (n)
Chicken
(Gallus gallus)
Aves GOT2 30 31
  • 78.15 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GOT2 31
  • 85 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia got2 30
  • 72.68 (n)
Str.1247 30
African clawed frog
(Xenopus laevis)
Amphibia got2-prov 30
Zebrafish
(Danio rerio)
Actinopterygii got2b 31
  • 77 (a)
OneToMany
got2a 30 31
  • 72.35 (n)
OneToMany
wufb64g01 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9809 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009685 30
  • 64.33 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG4233 32
  • 63 (a)
Got2 30 31
  • 62.94 (n)
OneToOne
CG8430 32
  • 48 (a)
Worm
(Caenorhabditis elegans)
Secernentea got-2.2 30 31
  • 64.15 (n)
OneToMany
got-2.1 31
  • 61 (a)
OneToMany
C44E4.3 32
  • 58 (a)
T01C8.4 32
  • 36 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AAT2 31
  • 43 (a)
OneToMany
AAT1 33
Thale Cress
(Arabidopsis thaliana)
eudicotyledons ASP1 30
  • 58.94 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3126 30
Soybean
(Glycine max)
eudicotyledons Gma.1611 30
Rice
(Oryza sativa)
Liliopsida Os02g0236000 30
  • 58.04 (n)
Os.4772 30
Barley
(Hordeum vulgare)
Liliopsida Hv.7187 30
Wheat
(Triticum aestivum)
Liliopsida Ta.5314 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 65 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU10383 30
  • 61.05 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC725.01 30
  • 58.14 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.14130 30
Species where no ortholog for GOT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for GOT2 Gene

ENSEMBL:
Gene Tree for GOT2 (if available)
TreeFam:
Gene Tree for GOT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GOT2: view image

Paralogs for GOT2 Gene

Paralogs for GOT2 Gene

(3) SIMAP similar genes for GOT2 Gene using alignment to 3 proteins:

  • AATM_HUMAN
  • E7ERW2_HUMAN
  • H3BRE7_HUMAN
genes like me logo Genes that share paralogs with GOT2: view

Variants for GOT2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GOT2 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
691280 Likely Pathogenic: Early infantile epileptic encephalopathy; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82 58,716,732(-) G/C MISSENSE_VARIANT
691281 Likely Pathogenic: Early infantile epileptic encephalopathy; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82 58,709,490(-) C/A MISSENSE_VARIANT
733891 Benign: not provided 58,708,216(-) G/A SYNONYMOUS_VARIANT
734481 Benign: not provided 58,708,301(-) G/C INTRON_VARIANT
747258 Likely Benign: not provided 58,708,286(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GOT2 Gene

Structural Variations from Database of Genomic Variants (DGV) for GOT2 Gene

Variant ID Type Subtype PubMed ID
esv1039184 CNV deletion 17803354
esv2714558 CNV deletion 23290073
esv2758650 CNV loss 17122850
nsv1065296 CNV loss 25217958
nsv1817 CNV insertion 18451855
nsv509623 CNV insertion 20534489
nsv510686 CNV deletion 20534489
nsv511049 OTHER complex 20534489
nsv954067 CNV deletion 24416366
nsv984340 CNV duplication 23825009

Variation tolerance for GOT2 Gene

Residual Variation Intolerance Score: 59.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.08; 75.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GOT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GOT2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GOT2 Gene

Disorders for GOT2 Gene

MalaCards: The human disease database

(15) MalaCards diseases for GOT2 Gene - From: UniProtKB/Swiss-Prot, OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 82
  • eiee82
acute vascular insufficiency of intestine
  • acute gastrointestinal tract vascular insuffic.
liver benign neoplasm
  • epithelial hepatic and intrahepatic bile duct neoplasm
primary hyperoxaluria
  • glycolic aciduria
perinatal necrotizing enterocolitis
  • enterocolitis necrotizing
- elite association - COSMIC cancer census association via MalaCards
Search GOT2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AATM_HUMAN
  • Epileptic encephalopathy, early infantile, 82 (EIEE82) [MIM:618721]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE82 is an autosomal recessive metabolic encephalopathy characterized by epilepsy from the first year of life, global developmental delay, hypotonia and feeding difficulties apparent soon after birth, and intellectual and motor disabilities. Other features include poor overall growth, progressive microcephaly and biochemical abnormalities, including increased serum lactate and ammonia. {ECO:0000269 PubMed:31422819}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GOT2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with GOT2: view

No data available for Genatlas for GOT2 Gene

Publications for GOT2 Gene

  1. Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy. (PMID: 31422819) van Karnebeek CDM … Wevers RA (American journal of human genetics 2019) 3 4
  2. Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study. (PMID: 21223598) Wineinger NE … Tiwari HK (BMC medical genomics 2011) 3 41
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  4. Common variants at ten loci influence QT interval duration in the QTGEN Study. (PMID: 19305408) Newton-Cheh C … Stricker BH (Nature genetics 2009) 3 41
  5. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PMID: 19834535) Wheeler HE … Kim SK (PLoS genetics 2009) 3 41

Products for GOT2 Gene

Sources for GOT2 Gene