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 thi... See more...

Aliases for GPT2 Gene

Aliases for GPT2 Gene

  • Glutamic--Pyruvic Transaminase 2 2 3 4 5
  • Alanine Aminotransferase 2 2 3 4
  • Glutamate Pyruvate Transaminase 2 3 4
  • Glutamic--Alanine Transaminase 2 3 4
  • Glutamic Pyruvate Transaminase 2 2 3
  • EC 2.6.1.2 4 52
  • 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 Filarial Elephantiasis. Among its related pathways are Carbon metabolism and Metabolism. Gene Ontology (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 Summary 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 , Rfam classification and piRNA Summary for GPT2 Gene

Genomics for GPT2 Gene

GeneHancer (GH) Regulatory Elements for GPT2 Gene

Promoters and enhancers for GPT2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J046882 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +0.8 801 6.2 EP300 FOXK2 ZNF217 NRF1 TCF12 MYC POLR2G NCOR1 RBAK NONO GPT2 lnc-C16orf87-2 SNORD148-001 SHCBP1 ENSG00000261131 ANKRD26P1
GH16J046686 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 13.9 -195.2 -195180 6 FOXK2 CTCF SIN3A NRF1 POLR2G USF1 SP1 NCOR1 PHF8 ZFX ORC6 VPS35 lnc-MYLK3-3-002 GPT2 SHCBP1 MYLK3 PHKB ANKRD26P1
GH16J046908 Enhancer 1.1 Ensembl ENCODE dbSUPER 12.7 +24.6 24590 0.7 CTCF POLR2G REST ZBTB25 RAD21 ZBTB7A ZKSCAN8 SMC3 KLF9 SAP130 GPT2 lnc-ORC6-5 SNORD148-001
GH16J046859 Enhancer 1 Ensembl ENCODE dbSUPER 12 -24.2 -24186 1.6 FOS CREB1 SAP130 FOSL1 NR2F1 FOSL2 GTF3C2 ZFP64 RARA NR2F6 GPT2 SHCBP1 ENSG00000261725 piR-32023-092 lnc-GPT2-5
GH16J046862 Enhancer 0.9 Ensembl ENCODE dbSUPER 12 -21.3 -21304 0.7 KLF9 KAT7 ZNF511 PRDM10 ZNF614 L3MBTL2 EGR2 ZNF316 ZNF776 HMBOX1 GPT2 MYLK3 piR-32023-092 ENSG00000261725 lnc-GPT2-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GPT2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GPT2

Top Transcription factor binding sites by QIAGEN in the GPT2 gene promoter:
  • AREB6
  • ARP-1
  • C/EBPbeta
  • E47
  • NF-1
  • SREBP-1a

Genomic Locations for GPT2 Gene

Genomic Locations for GPT2 Gene
chr16:46,884,362-46,931,289
(GRCh38/hg38)
Size:
46,928 bases
Orientation:
Plus strand
chr16:46,918,290-46,965,209
(GRCh37/hg19)
Size:
46,920 bases
Orientation:
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:
    Q8TD30-ALAT2_HUMAN
    Recommended name:
    Alanine aminotransferase 2
    Protein Accession:
    Q8TD30
    Secondary Accessions:
    • Q8N9E2

    Protein attributes for GPT2 Gene

    Size:
    523 amino acids
    Molecular mass:
    57904 Da
    Cofactor:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for GPT2 Gene

Selected DME Specific Peptides for GPT2 Gene

Q8TD30:
  • YAVRGPIV
  • RILQACGG
  • KKPFTEVIRANIGDAQAMGQ
  • IYLTTGAS
  • SVRLCPP
  • LLEETGIC
  • INPGNPTGQ
  • ELASFHS
  • IPIPQYPLYSA
  • GICVVPGSGFGQ
  • ADEVYQDNVY
  • HFRMTILPP

Post-translational modifications for GPT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GPT2 Gene

Antibody Products

  • Abcam antibodies for GPT2
  • Santa Cruz Biotechnology (SCBT) Antibodies for GPT2

Domains & Families for GPT2 Gene

Gene Families for GPT2 Gene

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

Protein Domains for GPT2 Gene

Blocks:
  • Aminotransferase, class I and II
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GPT2 Gene

GenScript: Design optimal peptide antigens:
  • Glutamic--pyruvic transaminase 2 (ALAT2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TD30

UniProtKB/Swiss-Prot:

ALAT2_HUMAN :
  • Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. Alanine aminotransferase subfamily.
Family:
  • 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 Function:
Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + L-alanine = L-glutamate + pyruvate; Xref=Rhea:RHEA:19453, ChEBI:CHEBI:15361, ChEBI:CHEBI:16810, ChEBI:CHEBI:29985, ChEBI:CHEBI:57972; EC=2.6.1.2; Evidence=. ;.

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 IBA,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 Gpt2<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

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

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 GPT2 gene
Compartment Confidence
mitochondrion 5
peroxisome 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 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: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

(8) 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 10
Glutamic acid Approved Nutra Full agonist, Agonist, Target 289
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 20
Sarilumab Approved, Investigational Pharma Enzyme, inducer 0
Famotidine Approved Pharma Histamine H2-receptor antagonist 73

(2) Additional Compounds for GPT2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GPT2: view

Transcripts for GPT2 Gene

mRNA/cDNA for GPT2 Gene

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

CRISPR Products

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: - - -
SP3:
SP4:
SP5: -
SP6:
SP7:

Relevant External Links for GPT2 Gene

GeneLoc Exon Structure for
GPT2

Expression for GPT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for GPT2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GPT2

SOURCE GeneReport for Unigene cluster for GPT2 Gene:

Hs.460693

mRNA Expression by UniProt/SwissProt for GPT2 Gene:

Q8TD30-ALAT2_HUMAN
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(4.6)
  • 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
Systems:
  • nervous
  • skeleton
Regions:
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
chimpanzee
(Pan troglodytes)
Mammalia GPT2 31 30
  • 99.3 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 91 (a)
OneToMany
-- 31
  • 88 (a)
OneToMany
cow
(Bos Taurus)
Mammalia GPT2 31 30
  • 90.76 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GPT2 31
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gpt2 17 31 30
  • 88.51 (n)
rat
(Rattus norvegicus)
Mammalia Gpt2 30
  • 87.42 (n)
dog
(Canis familiaris)
Mammalia -- 31
  • 84 (a)
OneToMany
-- 31
  • 83 (a)
OneToMany
chicken
(Gallus gallus)
Aves GPT2 31 30
  • 77.34 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia aca-mir-5392 31
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494152 30
  • 73.12 (n)
zebrafish
(Danio rerio)
Actinopterygii gpt2 31 30
  • 72.43 (n)
OneToOne
wufd46f01 30
fruit fly
(Drosophila melanogaster)
Insecta CG1640 31 32 30
  • 60.15 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000901 30
  • 60.13 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_C32F10.8 30
  • 55.6 (n)
C32F10.8 31
  • 51 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALT1 33 31 30
  • 51.07 (n)
ALT2 31
  • 44 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F19162g 30
  • 50.25 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ALAAT2 30
  • 53.19 (n)
soybean
(Glycine max)
eudicotyledons Gma.7690 30
rice
(Oryza sativa)
Liliopsida Os10g0390500 30
  • 51.42 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.29618 30
corn
(Zea mays)
Liliopsida Zm.3829 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 62 (a)
OneToMany
Cin.14590 30
bread mold
(Neurospora crassa)
Ascomycetes NCU03973 30
  • 55.72 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC582.08 30
  • 49.13 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14590 30
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

ENSEMBL:
Gene Tree for GPT2 (if available)
TreeFam:
Gene Tree for GPT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GPT2: view image

Paralogs for GPT2 Gene

Paralogs for GPT2 Gene

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

  • ALAT2_HUMAN
  • H3BU54_HUMAN
genes like me logo Genes that share paralogs with GPT2: view

Variants for GPT2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GPT2 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
691768 Uncertain Significance: Aggressive behavior; Delayed speech and language development; Intellectual disability, mild; Frequent falls 46,897,670(+) A/G MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
712974 Likely Benign: not provided 46,906,867(+) C/T SYNONYMOUS_VARIANT
718571 Likely Benign: not provided 46,918,635(+) C/T SYNONYMOUS_VARIANT
718832 Likely Benign: not provided 46,924,460(+) A/G SYNONYMOUS_VARIANT
723424 Likely Benign: not provided 46,922,402(+) G/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GPT2 Gene

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

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

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)

Additional Variant Information for GPT2 Gene

Human Gene Mutation Database (HGMD)
GPT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPT2

SNP Genotyping and Copy Number Assay Products

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

Disorders for GPT2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for GPT2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GPT2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ALAT2_HUMAN
  • 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.

Additional Disease Information for GPT2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 23 26 54
  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 54
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  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) 23 26 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for GPT2 Gene

  • Signalway ELISA kits for GPT2
  • Signalway Proteins for GPT2

Sources for GPT2 Gene