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Aliases for GPT2 Gene

Aliases for GPT2 Gene

  • Glutamic--Pyruvic Transaminase 2 2 3 4 5
  • Glutamate Pyruvate Transaminase 2 3 4
  • Glutamic Pyruvate Transaminase 2 2 3
  • Glutamic--Alanine Transaminase 2 3 4
  • Alanine Aminotransferase 2 2 3
  • EC 4 58
  • GPT 2 3 4
  • ALT2 3 4
  • Glutamic Pyruvate Transaminase (Alanine Aminotransferase) 2 3
  • 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--Pyruvic Transaminase 2) is a Protein Coding gene. Diseases associated with GPT2 include Mental Retardation, Autosomal Recessive 49 and Lymphangitis. Among its related pathways are Metabolism and Alanine, aspartate and glutamate 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.

Additional gene information for GPT2 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H046686 1.1 ENCODE 13.9 -195.3 -195326 5.8 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 GPT2 SHCBP1 MYLK3 ANKRD26P1 VPS35 ENSG00000280376
GH16H046859 1.2 Ensembl ENCODE dbSUPER 12 -24.3 -24290 1.5 PKNOX1 SAP130 SP5 JUN ZNF384 RAD21 ZNF644 RARA FOSL1 GTF3C2 ENSG00000261131 GPT2 SHCBP1 ENSG00000261725
GH16H046908 1 ENCODE dbSUPER 12.7 +24.7 24666 0.2 CTCF ZNF792 SAP130 ZFP64 RAD21 SMC3 ZNF143 MIXL1 THAP11 KLF11 GPT2 GC16P046894 GC16M046921
GH16H046905 0.8 dbSUPER 12.7 +22.9 22877 3.1 CTCF ZNF792 SAP130 ZKSCAN1 ZFHX2 POLR2A MIXL1 THAP11 EGR2 PAF1 SHCBP1 GPT2 GC16P046894 GC16M046921
GH16H046910 0.8 dbSUPER 12.7 +28.9 28927 5.9 HDGF FOXA2 TBL1XR1 ZSCAN26 SUZ12 ZSCAN4 BATF ZFHX2 POLR2A ATF7 GPT2 SHCBP1 ENSG00000261131 GC16M046921 GC16P046894
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000085493 222 2001 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766

Genomic Locations for GPT2 Gene

Genomic Locations for GPT2 Gene
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

Selected DME Specific Peptides for GPT2 Gene


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

Gene Families for GPT2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

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

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

Gene Ontology (GO) - Molecular Function for GPT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004021 L-alanine:2-oxoglutarate aminotransferase activity EXP,IDA 11863375
GO:0008483 transaminase activity IEA --
GO:0016740 transferase activity IEA --
GO:0030170 pyridoxal phosphate binding IEA --
genes like me logo Genes that share ontologies with GPT2: view
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 Models for GPT2 Gene

MGI Knock Outs for GPT2:
  • Gpt2 tm1a(KOMP)Wtsi

Clone Products

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for GPT2 Gene

Localization for GPT2 Gene

Subcellular locations from

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 GPT2 gene
Compartment Confidence
mitochondrion 5
peroxisome 2
cytosol 2
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GPT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with GPT2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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:0006103 2-oxoglutarate metabolic process IDA 11863375
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

(9) 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 7
Glutamic Acid Approved Nutra Full agonist, Agonist, Target 236
L-Alanine Approved Nutra Full agonist, Agonist, Target 0
Sarilumab Approved Pharma Enzyme, inducer 0
Famotidine Approved Pharma Histamine H2-receptor antagonist 62

(2) 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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for GPT2 Gene

NURSA nuclear receptor signaling pathways regulating expression of GPT2 Gene:


SOURCE GeneReport for Unigene cluster for GPT2 Gene:


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.

Evidence on tissue expression from TISSUES for GPT2 Gene

  • Nervous system(4.5)
  • Lung(4)
  • Liver(3.4)
  • Muscle(3)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GPT2 Gene

Germ Layers:
  • ectoderm
  • nervous
  • skeleton
Head and neck:
  • brain
  • head
  • skull
genes like me logo Genes that share expression patterns with GPT2: view

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
(Pan troglodytes)
Mammalia GPT2 34 33
  • 99.3 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 91 (a)
-- 34
  • 88 (a)
(Bos Taurus)
Mammalia GPT2 34 33
  • 90.76 (n)
(Monodelphis domestica)
Mammalia GPT2 34
  • 89 (a)
(Mus musculus)
Mammalia Gpt2 16 34 33
  • 88.51 (n)
(Rattus norvegicus)
Mammalia Gpt2 33
  • 87.42 (n)
(Canis familiaris)
Mammalia -- 34
  • 84 (a)
-- 34
  • 83 (a)
(Gallus gallus)
Aves GPT2 33 34
  • 77.34 (n)
(Anolis carolinensis)
Reptilia aca-mir-5392 34
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494152 33
  • 73.12 (n)
(Danio rerio)
Actinopterygii gpt2 34 33
  • 72.43 (n)
wufd46f01 33
fruit fly
(Drosophila melanogaster)
Insecta CG1640 35 33 34
  • 60.15 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000901 33
  • 60.13 (n)
(Caenorhabditis elegans)
Secernentea CELE_C32F10.8 33
  • 55.6 (n)
C32F10.8 34
  • 51 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALT1 33 34 36
  • 51.07 (n)
ALT2 34
  • 44 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F19162g 33
  • 50.25 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ALAAT2 33
  • 53.19 (n)
(Glycine max)
eudicotyledons Gma.7690 33
(Oryza sativa)
Liliopsida Os10g0390500 33
  • 51.42 (n)
(Triticum aestivum)
Liliopsida Ta.29618 33
(Zea mays)
Liliopsida Zm.3829 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 62 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03973 33
  • 55.72 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC582.08 33
  • 49.13 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14590 33
Species where no ortholog for GPT2 was found in the sources mined by GeneCards:
  • 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
rs786203999 Pathogenic, Mental retardation, autosomal recessive 49 (MRT49) [MIM:616281] 46,906,858(+) GCTAG(C/G)CAGGG reference, missense
rs115352435 Pathogenic 46,922,414(+) TCAGC(C/G/T)GAGTG reference, missense
rs886038199 Pathogenic 46,909,922(+) GAACC(C/T)CACAG reference, missense
rs886041649 Pathogenic 46,884,896(+) CGGTG(G/T)AGTAC upstream-variant-2KB, reference, stop-gained
rs1000008639 -- 46,906,138(+) GTGTC(A/G)TCATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GPT2 Gene

Variant ID Type Subtype PubMed ID
nsv1066115 CNV gain 25217958
nsv1063660 CNV gain 25217958
esv3638541 CNV gain 21293372
dgv1611e59 CNV duplication 20981092

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPT2 Gene

Disorders for GPT2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for GPT2 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal recessive 49
  • mrt49
  • elephantiasis nos
parasitic helminthiasis infectious disease
  • helminth infection
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
- 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 RZ … Gong DW (Genomics 2002) 3 4 22 25 60
  2. Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy. (PMID: 25758935) Celis K … Chung WK (Journal of inherited metabolic disease 2015) 3 4 60
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  4. cDNA cloning, expression, purification, distribution, and characterization of biologically active canine alanine aminotransferase-1. (PMID: 16495081) Rajamohan F … Lawton M (Protein expression and purification 2006) 22 25 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for GPT2 Gene

Sources for GPT2 Gene

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