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Aliases for GPT2 Gene

Aliases for GPT2 Gene

  • Glutamic Pyruvate Transaminase (Alanine Aminotransferase) 2 2 3
  • ALT2 3 4 6
  • Glutamate Pyruvate Transaminase 2 3 4
  • Glutamic--Alanine Transaminase 2 3 4
  • Glutamic--Pyruvic Transaminase 2 3 4
  • EC 2.6.1.2 4 64
  • GPT 2 3 4
  • Alanine Aminotransferase 2 3
  • MRT49 3
  • AAT2 4

External Ids for GPT2 Gene

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. Among its related pathways are Metabolism 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

Genomic Location for GPT2 Gene

Start:
46,884,378 bp from pter
End:
46,931,297 bp from pter
Size:
46,920 bases
Orientation:
Plus strand

Genomic View for GPT2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GPT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPT2 Gene

Regulatory Elements 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

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

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for GPT2 Gene

UniProtKB/Swiss-Prot:

ALAT2_HUMAN
Family:
  • Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. Alanine aminotransferase subfamily.:
    • Q8TD30
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

Gene Ontology (GO) - Molecular Function for GPT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004021 L-alanine:2-oxoglutarate aminotransferase activity IDA 11863375
GO:0030170 pyridoxal phosphate binding IEA --
genes like me logo Genes that share ontologies with GPT2: view

Phenotypes for GPT2 Gene

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

miRNA for GPT2 Gene

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for GPT2 Gene

Localization for GPT2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GPT2 Gene COMPARTMENTS Subcellular localization image for GPT2 gene
Compartment Confidence
mitochondrion 4
cytosol 1
endoplasmic reticulum 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GPT2 Gene

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

Pathways 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 --
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0042851 L-alanine metabolic process IDA 11863375
genes like me logo Genes that share ontologies with GPT2: view

Compounds for GPT2 Gene

(6) HMDB Compounds for GPT2 Gene

Compound Synonyms Cas Number PubMed IDs
Famotidine
  • Amfamox
76824-35-6
L-Alanine
  • (2S)-2-Aminopropanoate
56-41-7
L-Glutamic acid
  • (2S)-2-Aminopentanedioate
56-86-0
Oxoglutaric acid
  • 2-Ketoglutarate
328-50-7
Pyridoxal 5'-phosphate
  • Apolon B6
54-47-7

(4) Drugbank Compounds for GPT2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Alanine
  • (2S)-2-Aminopropanoic acid
56-41-7 target
L-Glutamic Acid
  • (2S)-2-Aminopentanedioic acid
56-86-0 target
Phenelzine
51-71-8 target inhibitor
Pyridoxal Phosphate
  • Codecarboxylase
54-47-7 target cofactor

(3) Novoseek inferred chemical compound relationships for GPT2 Gene

Compound -log(P) Hits PubMed IDs
alanine 69.6 4
aspartate 29.8 1
glucose 0 2
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: - - -
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 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 (4.4) and Pancreas (4.3).

Integrated Proteomics: protein expression 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

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.
genes like me logo Genes that share expressions with GPT2: view

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 36
  • 99.3 (n)
  • 99.04 (a)
GPT2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GPT2 36
  • 90.76 (n)
  • 96.37 (a)
GPT2 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 37
  • 84 (a)
OneToMany
-- 37
  • 83 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Gpt2 36
  • 88.51 (n)
  • 93.1 (a)
Gpt2 16
Gpt2 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GPT2 37
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 91 (a)
OneToMany
-- 37
  • 88 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Gpt2 36
  • 87.42 (n)
  • 93.87 (a)
chicken
(Gallus gallus)
Aves GPT2 36
  • 77.34 (n)
  • 88.02 (a)
GPT2 37
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia aca-mir-5392 37
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494152 36
  • 73.12 (n)
  • 83.12 (a)
zebrafish
(Danio rerio)
Actinopterygii gpt2 36
  • 72.43 (n)
  • 75 (a)
gpt2 37
  • 67 (a)
OneToOne
wufd46f01 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000901 36
  • 60.13 (n)
  • 58.46 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1640 36
  • 60.15 (n)
  • 55.46 (a)
CG1640 37
  • 46 (a)
OneToMany
CG1640 38
  • 55 (a)
worm
(Caenorhabditis elegans)
Secernentea C32F10.8 37
  • 51 (a)
OneToMany
CELE_C32F10.8 36
  • 55.6 (n)
  • 54.76 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALT1 36
  • 51.07 (n)
  • 48.5 (a)
ALT1 37
  • 38 (a)
ManyToMany
ALT1 39
ALT2 37
  • 44 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F19162g 36
  • 50.25 (n)
  • 46.04 (a)
soybean
(Glycine max)
eudicotyledons Gma.7690 36
thale cress
(Arabidopsis thaliana)
eudicotyledons ALAAT2 36
  • 53.19 (n)
  • 47.02 (a)
corn
(Zea mays)
Liliopsida Zm.3829 36
rice
(Oryza sativa)
Liliopsida Os10g0390500 36
  • 51.42 (n)
  • 45.32 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.29618 36
bread mold
(Neurospora crassa)
Ascomycetes NCU03973 36
  • 55.72 (n)
  • 46.7 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC582.08 36
  • 49.13 (n)
  • 43.99 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14590 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 62 (a)
OneToMany
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

ENSEMBL:
Gene Tree for GPT2 (if available)
TreeFam:
Gene Tree for GPT2 (if available)

Paralogs for GPT2 Gene

Paralogs for GPT2 Gene

Selected 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 MAF
rs8728 -- 46,931,267(-) TTATT(C/T)ATAGA utr-variant-3-prime
rs734309 -- 46,918,119(+) ATAAA(C/T)GCTGC intron-variant
rs754043 -- 46,911,016(-) AGTGA(C/T)GGTAA intron-variant
rs1530895 -- 46,920,436(-) ATGTA(A/C)GTATG intron-variant
rs1901391 -- 46,895,497(-) CCCAG(A/G)CTGGA intron-variant

Relevant External Links for GPT2 Gene

HapMap Linkage Disequilibrium report
GPT2
Human Gene Mutation Database (HGMD)
GPT2

No data available for Structural Variations from Database of Genomic Variants (DGV) for GPT2 Gene

Disorders for GPT2 Gene

(1) Novoseek inferred disease relationships for GPT2 Gene

Disease -log(P) Hits PubMed IDs
liver damage 67 1

Relevant External Links for GPT2

Genetic Association Database (GAD)
GPT2
Human Genome Epidemiology (HuGE) Navigator
GPT2
genes like me logo Genes that share disorders with GPT2: view

No data available for UniProtKB/Swiss-Prot 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. The sequence and analysis of duplication-rich human chromosome 16. (PMID: 15616553) Martin J. … Pennacchio L.A. (Nature 2004) 3 4
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 49

Products for GPT2 Gene

Sources for GPT2 Gene

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