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Aliases for GPT2 Gene

Aliases for GPT2 Gene

  • Glutamic Pyruvate Transaminase (Alanine Aminotransferase) 2 2 3 5
  • Glutamate Pyruvate Transaminase 2 3 4
  • Glutamic--Alanine Transaminase 2 3 4
  • Glutamic--Pyruvic Transaminase 2 3 4
  • EC 4 63
  • GPT 2 3 4
  • ALT2 3 4
  • MRT49 3
  • AAT2 4

External Ids for GPT2 Gene

Previous GeneCards Identifiers for GPT2 Gene

  • GC16P037329
  • GC16P046859
  • GC16P046658
  • GC16P046699
  • GC16P045475
  • GC16P032808
  • GC16P046918

Summaries for GPT2 Gene

Entrez Gene Summary for GPT2 Gene

  • This gene encodes a mitochondrial alanine transaminase, a pyridoxal enzyme that catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate. Alanine transaminases play roles in gluconeogenesis and amino acid metabolism in many tissues including skeletal muscle, kidney, and liver. Activating transcription factor 4 upregulates this gene under metabolic stress conditions in hepatocyte cell lines. A loss of function mutation in this gene has been associated with developmental encephalopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

GeneCards Summary for GPT2 Gene

GPT2 (Glutamic Pyruvate Transaminase (Alanine Aminotransferase) 2) is a Protein Coding gene. Diseases associated with GPT2 include Mental Retardation, Autosomal Recessive 49 and Lymphangitis. Among its related pathways are Amino acid synthesis and interconversion (transamination) and Carbon metabolism. GO annotations related to this gene include pyridoxal phosphate binding and L-alanine:2-oxoglutarate aminotransferase activity. An important paralog of this gene is GPT.

UniProtKB/Swiss-Prot for GPT2 Gene

  • Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GPT2 Gene

Genomics for GPT2 Gene

Regulatory Elements for GPT2 Gene

Enhancers for GPT2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GPT2 on UCSC Golden Path with GeneCards custom track

Promoters for GPT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GPT2 on UCSC Golden Path with GeneCards custom track

Genomic Location for GPT2 Gene

46,884,378 bp from pter
46,931,297 bp from pter
46,920 bases
Plus strand

Genomic View for GPT2 Gene

Genes around GPT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPT2 Gene

Proteins for GPT2 Gene

  • Protein details for GPT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Alanine aminotransferase 2
    Protein Accession:
    Secondary Accessions:
    • Q8N9E2

    Protein attributes for GPT2 Gene

    523 amino acids
    Molecular mass:
    57904 Da
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for GPT2 Gene

    Alternative splice isoforms for GPT2 Gene


neXtProt entry for GPT2 Gene

Proteomics data for GPT2 Gene at MOPED

Post-translational modifications for GPT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GPT2 Gene

Domains & Families for GPT2 Gene

Suggested Antigen Peptide Sequences for GPT2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. Alanine aminotransferase subfamily.
  • Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. Alanine aminotransferase subfamily.
genes like me logo Genes that share domains with GPT2: view

No data available for Gene Families for GPT2 Gene

Function for GPT2 Gene

Molecular function for GPT2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
L-alanine + 2-oxoglutarate = pyruvate + L-glutamate.
UniProtKB/Swiss-Prot Function:
Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate.

Enzyme Numbers (IUBMB) for GPT2 Gene

genes like me logo Genes that share phenotypes with GPT2: view

Human Phenotype Ontology for GPT2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for GPT2

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for GPT2 Gene

Localization for GPT2 Gene

Subcellular locations from

Jensen Localization Image for GPT2 Gene COMPARTMENTS Subcellular localization image for GPT2 gene
Compartment Confidence
mitochondrion 5
cytosol 2
peroxisome 2
endoplasmic reticulum 1
nucleus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for GPT2 Gene

Pathways & Interactions for GPT2 Gene

genes like me logo Genes that share pathways with GPT2: view

UniProtKB/Swiss-Prot Q8TD30-ALAT2_HUMAN

  • Pathway: Amino-acid degradation; L-alanine degradation via transaminase pathway; pyruvate from L-alanine: step 1/1.

Gene Ontology (GO) - Biological Process for GPT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008652 cellular amino acid biosynthetic process TAS --
GO:0009058 biosynthetic process IEA --
GO:0042851 L-alanine metabolic process IDA 11863375
GO:0042853 L-alanine catabolic process IEA --
genes like me logo Genes that share ontologies with GPT2: view

No data available for SIGNOR curated interactions for GPT2 Gene

Drugs & Compounds for GPT2 Gene

(7) Drugs for GPT2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phenelzine Approved Pharma Target, inhibitor 6
L-Alanine Approved Nutra Full agonist, Agonist, Target Glycine receptor agonist 0
Famotidine Approved Pharma Histamine H2-receptor antagonist 57
Pyruvic acid Approved Nutra 0
L-Glutamic Acid Nutra Full agonist, Agonist, Target 0

(3) Additional Compounds for GPT2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate
genes like me logo Genes that share compounds with GPT2: view

Transcripts for GPT2 Gene

Unigene Clusters for GPT2 Gene

Glutamic pyruvate transaminase (alanine aminotransferase) 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GPT2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b
SP1: -
SP2: - - -
SP5: -

Relevant External Links for GPT2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GPT2 Gene

mRNA expression in normal human tissues for GPT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GPT2 Gene

This gene is overexpressed in Liver (x4.4) and Pancreas (x4.3).

Protein differential expression in normal tissues from HIPED for GPT2 Gene

This gene is overexpressed in Skin (15.7), Heart (13.2), Milk (8.6), Salivary gland (8.1), and Testis (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GPT2 Gene

SOURCE GeneReport for Unigene cluster for GPT2 Gene Hs.460693

mRNA Expression by UniProt/SwissProt for GPT2 Gene

Tissue specificity: Expressed at high levels in muscle, adipose tissue, kidney and brain and at lower levels in the liver and breast.
genes like me logo Genes that share expression patterns with GPT2: view

Primer Products

No data available for Protein tissue co-expression partners for GPT2 Gene

Orthologs for GPT2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GPT2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia GPT2 35
  • 90.76 (n)
  • 96.37 (a)
GPT2 36
  • 97 (a)
(Mus musculus)
Mammalia Gpt2 35
  • 88.51 (n)
  • 93.1 (a)
Gpt2 16
Gpt2 36
  • 93 (a)
(Pan troglodytes)
Mammalia GPT2 35
  • 99.3 (n)
  • 99.04 (a)
GPT2 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Gpt2 35
  • 87.42 (n)
  • 93.87 (a)
(Canis familiaris)
Mammalia -- 36
  • 84 (a)
-- 36
  • 83 (a)
(Monodelphis domestica)
Mammalia GPT2 36
  • 89 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 91 (a)
-- 36
  • 88 (a)
(Gallus gallus)
Aves GPT2 35
  • 77.34 (n)
  • 88.02 (a)
GPT2 36
  • 88 (a)
(Anolis carolinensis)
Reptilia aca-mir-5392 36
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494152 35
  • 73.12 (n)
  • 83.12 (a)
(Danio rerio)
Actinopterygii gpt2 35
  • 72.43 (n)
  • 75 (a)
wufd46f01 35
gpt2 36
  • 67 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1640 37
  • 55 (a)
CG1640 35
  • 60.15 (n)
  • 55.46 (a)
CG1640 36
  • 46 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000901 35
  • 60.13 (n)
  • 58.46 (a)
(Caenorhabditis elegans)
Secernentea CELE_C32F10.8 35
  • 55.6 (n)
  • 54.76 (a)
C32F10.8 36
  • 51 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F19162g 35
  • 50.25 (n)
  • 46.04 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALT1 35
  • 51.07 (n)
  • 48.5 (a)
ALT1 36
  • 38 (a)
ALT2 36
  • 44 (a)
ALT1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons ALAAT2 35
  • 53.19 (n)
  • 47.02 (a)
(Glycine max)
eudicotyledons Gma.7690 35
(Oryza sativa)
Liliopsida Os10g0390500 35
  • 51.42 (n)
  • 45.32 (a)
(Triticum aestivum)
Liliopsida Ta.29618 35
(Zea mays)
Liliopsida Zm.3829 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14590 35
bread mold
(Neurospora crassa)
Ascomycetes NCU03973 35
  • 55.72 (n)
  • 46.7 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC582.08 35
  • 49.13 (n)
  • 43.99 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 62 (a)
Species with no ortholog for GPT2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 GPT2 Gene

Gene Tree for GPT2 (if available)
Gene Tree for GPT2 (if available)

Paralogs for GPT2 Gene

Paralogs for GPT2 Gene

(1) SIMAP similar genes for GPT2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GPT2: view

Variants for GPT2 Gene

Sequence variations from dbSNP and Humsavar for GPT2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
VAR_073379 Mental retardation, autosomal recessive 49 (MRT49)
rs8728 -- 46,931,267(-) TTATT(C/T)ATAGA utr-variant-3-prime
rs4039999 -- 46,910,408(+) anaaa(-/A/AA)NCtta intron-variant
rs4246381 -- 46,905,220(+) CCTGG(C/T)TGATT intron-variant
rs4246382 -- 46,906,643(+) gggtg(A/C/G)atgga intron-variant

Variation tolerance for GPT2 Gene

Residual Variation Intolerance Score: 17.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.31; 26.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GPT2 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GPT2 Gene

Disorders for GPT2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for GPT2 Gene - From: OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal recessive 49
  • mrt49
  • lymphangitis nos
  • elephantiasis nos
  • kwashiokor
- elite association - COSMIC cancer census association via MalaCards
Search GPT2 in MalaCards View complete list of genes associated with diseases


  • Mental retardation, autosomal recessive 49 (MRT49) [MIM:616281]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT49 patients show a developmental encephalopathy characterized by rapid onset of failure to thrive and microcephaly, as well as profoundly delayed development. {ECO:0000269 PubMed:25758935}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GPT2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with GPT2: view

No data available for Genatlas for GPT2 Gene

Publications for GPT2 Gene

  1. cDNA cloning, genomic structure, chromosomal mapping, and functional expression of a novel human alanine aminotransferase. (PMID: 11863375) Yang R.-Z. … Gong D.-W. (Genomics 2002) 3 4 23 25 26 67
  2. cDNA cloning, expression, purification, distribution, and characterization of biologically active canine alanine aminotransferase-1. (PMID: 16495081) Rajamohan F. … Lawton M. (Protein Expr. Purif. 2006) 23 25 26
  3. Murine alanine aminotransferase: cDNA cloning, functional expression, and differential gene regulation in mouse fatty liver. (PMID: 15122758) Jadhao S.B. … Jadaho S.B. (Hepatology 2004) 23 25 26
  4. Neurochemical effects of the monoamine oxidase inhibitor phenelzine on brain GABA and alanine: A comparison with vigabatrin. (PMID: 19203467) Todd K.G. … Baker G.B. (J Pharm Pharm Sci 2008) 25 26
  5. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26

Products for GPT2 Gene

Sources for GPT2 Gene