U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    GPT2 glutamic--pyruvic transaminase 2 [ Homo sapiens (human) ]

    Gene ID: 84706, updated on 10-Dec-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Exosomal GPT2 derived from triple-negative breast cancer cells promotes metastasis by activating BTRC.

    Exosomal GPT2 derived from triple-negative breast cancer cells promotes metastasis by activating BTRC.
    Cui M, Peng J, Zhou Y, Wang X, Cui D., Free PMC Article

    07/25/2023
    The delta subunit of the GABAA receptor is necessary for the GPT2-promoted breast cancer metastasis.

    The delta subunit of the GABA(A) receptor is necessary for the GPT2-promoted breast cancer metastasis.
    Li N, Xu X, Liu D, Gao J, Gao Y, Wu X, Sheng H, Li Q, Mi J., Free PMC Article

    03/21/2023
    SPTBN1 abrogates renal clear cell carcinoma progression via glycolysis reprogramming in a GPT2-dependent manner.

    SPTBN1 abrogates renal clear cell carcinoma progression via glycolysis reprogramming in a GPT2-dependent manner.
    Wu J, Miao C, Wang Y, Wang S, Wang Z, Liu Y, Wang X, Wang Z., Free PMC Article

    12/24/2022
    Loss of mitochondrial enzyme GPT2 causes early neurodegeneration in locus coeruleus.

    Loss of mitochondrial enzyme GPT2 causes early neurodegeneration in locus coeruleus.
    Baytas O, Kauer JA, Morrow EM., Free PMC Article

    10/8/2022
    Thyroid hormone regulates glutamine metabolism and anaplerotic fluxes by inducing mitochondrial glutamate aminotransferase GPT2.

    Thyroid hormone regulates glutamine metabolism and anaplerotic fluxes by inducing mitochondrial glutamate aminotransferase GPT2.
    Cicatiello AG, Sagliocchi S, Nappi A, Di Cicco E, Miro C, Murolo M, Stornaiuolo M, Dentice M., Free PMC Article

    03/19/2022
    Abrogating GPT2 in triple-negative breast cancer inhibits tumor growth and promotes autophagy.

    Abrogating GPT2 in triple-negative breast cancer inhibits tumor growth and promotes autophagy.
    Mitra D, Vega-Rubin-de-Celis S, Royla N, Bernhardt S, Wilhelm H, Tarade N, Poschet G, Buettner M, Binenbaum I, Borgoni S, Vetter M, Kantelhardt EJ, Thomssen C, Chatziioannou A, Hell R, Kempa S, Müller-Decker K, Wiemann S.

    08/7/2021
    [The Influence of Glutamic Pyruvate Transaminase 2 to Biological Characteristics of Acute Myeloid Leukemia Cell HL-60].

    [The Influence of Glutamic Pyruvate Transaminase 2 to Biological Characteristics of Acute Myeloid Leukemia Cell HL-60].
    Xiang XR, Li Q, Yu Y, Wu Y.

    04/13/2021
    A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family.

    A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family.
    Binaafar S, Razmara E, Mahdieh N, Sahebjame H, Tavasoli AR, Garshasbi M.

    01/2/2021
    GPT2 is an important component of the adaptive metabolic response for glutamine deprivation and indicate that targeting this pathway in combination with Glutaminase inhibition may be an effective therapeutic approach for cancer treatment.

    Mitochondrial GPT2 plays a pivotal role in metabolic adaptation to the perturbation of mitochondrial glutamine metabolism.
    Kim M, Gwak J, Hwang S, Yang S, Jeong SM.

    12/14/2019
    Because of the consistent presence of pyramidal tract affection in GPT2 patients, we further suggest that GPT2 mutations should be considered in cases with complex hereditary spastic paraplegia

    GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia.
    Hengel H, Keimer R, Deigendesch W, Rieß A, Marzouqa H, Zaidan J, Bauer P, Schöls L.

    11/2/2019
    GPT2-related autosomal recessive intellectual disability represents an important new neurogenetic syndrome involving developmental as well as progressive features, notably motor disabilities

    GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates.
    Ouyang Q, Kavanaugh BC, Joesch-Cohen L, Dubois B, Wu Q, Schmidt M, Baytas O, Pastore SF, Harripaul R, Mishra S, Hussain A, Kim KH, Holler-Managan YF, Ayub M, Mir A, Vincent JB, Liu JS, Morrow EM., Free PMC Article

    10/5/2019
    We here describe novel compound heterozygous missense variants, NM_133443:c.[400C>T] and NM_133443:[1435G>A], in the glutamic-pyruvic transaminase 2 (GPT2) gene in a large consanguineous family with two affected siblings diagnosed with microcephaly intellectual disability and developmental delay (IDD).

    Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.
    Kaymakcalan H, Yarman Y, Goc N, Toy F, Meral C, Ercan-Sencicek AG, Gunel M.

    01/12/2019
    GPT2 reduced alpha-ketoglutarate level in cells leading to the inhibition of proline hydroxylase 2 (PHD2) activity involved in the regulation of HIF1alpha stability. Accumulation of HIF1alpha, resulting from GPT2-alpha-ketoglutarate-PHD2 axis, constitutively activates sonic hedgehog (Shh) signaling pathway.

    Glutamic Pyruvate Transaminase GPT2 Promotes Tumorigenesis of Breast Cancer Cells by Activating Sonic Hedgehog Signaling.
    Cao Y, Lin SH, Wang Y, Chin YE, Kang L, Mi J., Free PMC Article

    05/5/2018
    The GPT2 gene demonstrates increasing expression in brain in the early postnatal period, and GPT2 protein localizes to mitochondria. Akin to the human phenotype, Gpt2-null mice exhibit reduced brain growth. Through metabolomics and direct isotope tracing experiments, we find a number of metabolic abnormalities associated with loss of Gpt2

    Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.
    Ouyang Q, Nakayama T, Baytas O, Davidson SM, Yang C, Schmidt M, Lizarraga SB, Mishra S, Ei-Quessny M, Niaz S, Gul Butt M, Imran Murtaza S, Javed A, Chaudhry HR, Vaughan DJ, Hill RS, Partlow JN, Yoo SY, Lam AT, Nasir R, Al-Saffar M, Barkovich AJ, Schwede M, Nagpal S, Rajab A, DeBerardinis RJ, Housman DE, Mochida GH, Morrow EM., Free PMC Article

    01/27/2018
    Recessively inherited loss of function GPT2 mutations are a novel cause of intellectual disability.

    Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy.
    Celis K, Shuldiner S, Haverfield EV, Cappell J, Yang R, Gong DW, Chung WK., Free PMC Article

    07/16/2016
    ATF4 silencing prevented the activating effect of histidinol and tunicamycin on ATF4 and ALT2 expression. Our findings point to ALT2 as an enzyme involved in the metabolic adaptation of the cell to stress

    Activating transcription factor 4 mediates up-regulation of alanine aminotransferase 2 gene expression under metabolic stress.
    Salgado MC, Metón I, Anemaet IG, Baanante IV.

    06/14/2014
    Observational study of gene-disease association. (HuGE Navigator)

    Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ., Free PMC Article

    12/5/2010
    A clinical method for selective measurement of ALT1 and 2 in human plasma is described.

    Detection of the mitochondrial and catalytically active alanine aminotransferase in human tissues and plasma.
    Glinghammar B, Rafter I, Lindström AK, Hedberg JJ, Andersson HB, Lindblom P, Berg AL, Cotgreave I.

    01/21/2010
    The biliary IL-6 and TNF-alpha levels were positively correlated with serum DBIL, TBA and gamma-GT levels in infantile hepatitis syndrome subjects.

    Alterations of biliary biochemical constituents and cytokines in infantile hepatitis syndrome.
    Ding Y, Zhao L, Mei H, Huang ZH, Zhang SL., Free PMC Article

    01/21/2010
    Elevation of liver enzymes and hepatic insulin resistance as reflected by fasting insulin occur in the early stages of insulin resistance and highlight the central role of the liver in insulin resistance in the general population.

    A comparison of associations of alanine aminotransferase and gamma-glutamyltransferase with fasting glucose, fasting insulin, and glycated hemoglobin in women with and without diabetes.
    Fraser A, Ebrahim S, Smith GD, Lawlor DA.

    01/21/2010
    expression of GPT2 especially in muscle and fat, suggests a unique and previously unrecognized role of this gene product in glucose, amino acid, and fatty acid metabolism and homeostasis.

    cDNA cloning, genomic structure, chromosomal mapping, and functional expression of a novel human alanine aminotransferase.
    Yang RZ, Blaileanu G, Hansen BC, Shuldiner AR, Gong DW.

    01/21/2010
    firstprevious page of 1 nextlast