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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 2.6.1.2 4 56
  • 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 Arginine biosynthesis and Viral mRNA Translation. 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 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

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
GH16I046882 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.8 785 6.2 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 GPT2 ENSG00000261131 SHCBP1 ANKRD26P1 GC16P046894
GH16I046686 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 13.9 -195.3 -195326 5.8 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ORC6 VPS35 GPT2 SHCBP1 ENSG00000261131 MYLK3 ANKRD26P1 ENSG00000280376
GH16I046859 Enhancer 1 Ensembl ENCODE dbSUPER 12 -24.3 -24289 1.5 PKNOX1 SAP130 SP5 JUN ZNF384 ZNF644 RAD21 RARA FOSL1 GTF3C2 GPT2 SHCBP1 ENSG00000261725
GH16I046908 Enhancer 0.9 ENCODE dbSUPER 12.7 +24.7 24666 0.2 CTCF ZNF792 SAP130 ZFP64 RAD21 ZNF143 SMC3 THAP11 MIXL1 STAT1 GPT2 GC16P046894 GC16M046921
GH16I047459 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 4.4 +577.3 577328 5 PKNOX1 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF213 E2F8 ZNF207 ZNF143 ITFG1 PHKB ENSG00000261131 SIAH1 SHCBP1 GPT2 LONP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GPT2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GPT2 gene promoter:

Genomic Locations for GPT2 Gene

Genomic Locations for GPT2 Gene
chr16:46,884,378-46,931,297
(GRCh38/hg38)
Size:
46,920 bases
Orientation:
Plus strand
chr16:46,918,290-46,965,209
(GRCh37/hg19)

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

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

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 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

Animal Model 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
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 251
L-Alanine Approved Nutra Full agonist, Agonist, Target Glycine receptor agonist 0
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 17
Sarilumab Approved, Investigational Pharma Enzyme, inducer 0

(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
328-50-7
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: - - -
SP3:
SP4:
SP5: -
SP6:
SP7:

Relevant External Links for GPT2 Gene

GeneLoc Exon Structure for
GPT2
ECgene alternative splicing isoforms for
GPT2

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:

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(4.5)
  • 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
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 33 34
  • 99.3 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 91 (a)
OneToMany
-- 34
  • 88 (a)
OneToMany
cow
(Bos Taurus)
Mammalia GPT2 33 34
  • 90.76 (n)
oppossum
(Monodelphis domestica)
Mammalia GPT2 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gpt2 33 16 34
  • 88.51 (n)
rat
(Rattus norvegicus)
Mammalia Gpt2 33
  • 87.42 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 84 (a)
OneToMany
-- 34
  • 83 (a)
OneToMany
chicken
(Gallus gallus)
Aves GPT2 33 34
  • 77.34 (n)
lizard
(Anolis carolinensis)
Reptilia aca-mir-5392 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494152 33
  • 73.12 (n)
zebrafish
(Danio rerio)
Actinopterygii gpt2 33 34
  • 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)
worm
(Caenorhabditis elegans)
Secernentea CELE_C32F10.8 33
  • 55.6 (n)
C32F10.8 34
  • 51 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALT1 33 34 36
  • 51.07 (n)
ALT2 34
  • 44 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F19162g 33
  • 50.25 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ALAAT2 33
  • 53.19 (n)
soybean
(Glycine max)
eudicotyledons Gma.7690 33
rice
(Oryza sativa)
Liliopsida Os10g0390500 33
  • 51.42 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.29618 33
corn
(Zea mays)
Liliopsida Zm.3829 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 62 (a)
OneToMany
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

ENSEMBL:
Gene Tree for GPT2 (if available)
TreeFam:
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 Variation AA Info Type
rs115352435 pathogenic, Mental retardation, autosomal recessive 49 46,922,414(+) C/G/T coding_sequence_variant, missense_variant, stop_gained
rs786203999 pathogenic, Mental retardation, autosomal recessive 49, Mental retardation, autosomal recessive 49 (MRT49) [MIM:616281] 46,906,858(+) C/G coding_sequence_variant, missense_variant
rs886038199 pathogenic, Mental retardation, autosomal recessive 49 46,909,922(+) C/T coding_sequence_variant, missense_variant
rs886041649 pathogenic, not provided 46,884,896(+) G/T coding_sequence_variant, genic_upstream_transcript_variant, stop_gained, upstream_transcript_variant
rs1000008639 -- 46,906,138(+) A/G intron_variant

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

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

Disorder Aliases PubMed IDs
mental retardation, autosomal recessive 49
  • mrt49
lymphangitis
elephantiasis
  • elephantiasis nos
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
parasitic helminthiasis infectious disease
  • helminth infection
- 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 22 25 58
  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 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  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 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for GPT2 Gene

Sources for GPT2 Gene

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