Property Summary

NCBI Gene PubMed Count 63
PubMed Score 180.33
PubTator Score 187.75

Knowledge Summary


No data available


  Differential Expression (8)

Disease log2 FC p
malignant mesothelioma 1.100 3.9e-05
psoriasis -1.100 2.3e-03
sonic hedgehog group medulloblastoma 1.500 1.1e-04
medulloblastoma, large-cell 1.600 1.9e-03
primitive neuroectodermal tumor 1.100 4.0e-04
adrenocortical carcinoma -1.094 2.2e-05
lung carcinoma -1.100 3.2e-26
ovarian cancer 1.100 2.9e-04

 GWAS Trait (1)

Protein-protein Interaction (3)

Gene RIF (48)

26751376 MTAP expression was significantly higher in Luminal-A breast tumors than in triple negative breast neoplasms, suggesting the lack of expression in more aggressive breast tumors.
26656376 MTAP deficiency was predictive of worse disease-specific survival and distant metastasis-free survival, suggesting its role in disease progression and as an independent prognostic biomarker of nasopharyngeal carcinoma
26088413 study to describe MTAP expression in a series of Pilocytic astrocytomas and relate it to the clinicopathological features of the patients; found MTAP expression is retained in Pilocytic astrocytomas and is not an outcome predictor for these tumors
25426549 In the MTAP-deficient cases, the homozygous deletion of MTAP predicted adverse outcome. In MTAP-deficient cells, MTAP reexpression inhibited cell migration and invasion, proliferation and anchorage-independent colony formation and downregulated cyclin D1.
24969958 MTAP expression is an independent prognostic factor and has greater prognostic significance than p16 expression in non-small cell lung cancer and concordant loss of MTAP and p16 expression indicates poor outcomes in lung cancer patients.
24324622 MTAP-mediated regulation of methylthioadenosine links polyamine metabolism with NF-kappaB activation and apoptosis in hepatic stellate cells.
23508829 Homozygous deletion of MTAP gene is associated with haploid lymphoblastic leukemia.
23462334 SNP rs10118757 was associated with CAD risk in a Chinese Han population, indicating that MTAP gene may play a potential role in the pathophysiological process of CAD.
23040436 Authors report here that a high percentage of t-cell lymphoma lack the enzyme methylthioadenosine phosphorylase (MTAP).
23000879 Letter: inactivation of MTAP expression seems to be an important step in the development and progression of malignant melanoma. of
22685558 Data indicate that a signature of seven biomarkers (Bax, Bcl-X, PTEN, COX-2, beta-Catenin, MTAP and CD20) was found to be an independent negative predictor for overall and recurrence-free survival in cutaneous malignant melanoma (MM).
21985704 A large negative heat capacity change of -600 cal/(mol K) upon inhibitor binding to MTAP is consistent with altered hydrophobic interactions and release of water.
21962134 Polymorphisms in nevus-associated genes MTAP is associated with invasive cutaneous melanoma.
21412930 The present study suggests that MTAP plays an important role in the regulation of gastric carcinogenesis.
21356366 MTAP deficiency results in accumulation of 5'-deoxy-5'-methylthioadenosine, which is associated with increased tumorigenicity.
21342647 The expression of MTAP protein in non-small cell lung cancer tissue was significantly lower than that in paracarcinomous tissue and borderline lung tissue.
21135097 MTDIA antitumor activity in xenografts supports MTAP as a target for lung cancer therapy.
20647408 Observational study of gene-disease association. (HuGE Navigator)
20637465 CDKN2B (p15(INK4b)), CDKN2A (p16(INK4a), p14(ARF)), and MTAP are abundantly expressed in atherosclerotic lesions.
20574843 Single nucleotide polymorphism in MTAP gene is associated with nevi.
20574843 Observational study of gene-disease association. (HuGE Navigator)
20302706 MTAP gene might be involved in the etiology of myocardial infarction in Chinese Han ethnicity.
20302706 Observational study of gene-disease association. (HuGE Navigator)
20081810 Detection of CDKN2A-MTAP co-deletion in peritoneal mesotheliomas can help identify those patients who may have an unfavorable outcome
19887491 MTAP homozygous deletion, the predominant mechanism to deplete protein expression, is present in 17% of gastrointestinal stromal tumors
19887491 Observational study of gene-disease association. (HuGE Navigator)
19665068 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19622299 Expression of MTAP is significantly higher in human colorectal cancer than in normal colorectal tissues. Demethylation of MTAP promoter may play an important role in up-regulating MTAP expression.
19578365 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19427650 The G allele of rs10118757 was associated with an increased risk of stroke in Han Chinese even after controlling for confounding factors. The GA+GG genotype was associated with the increased risk of an undetermined subtype of ischemic stroke.
19427650 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19272367 This study demonstrates for the first time that polymorphisms in CDKN2B and MTAP gene may influence the risk of myocardial infarction in Chinese.
19272367 Observational study of gene-disease association. (HuGE Navigator)
18555557 analysis of methylthioadenosine phosphorylase (MTAP) deficiency in non-small cell lung carcinoma
18237276 Regulation of MTAP by reactive oxygen species might participate in the redox regulation of the methionine catabolic pathway in the liver
16778103 Methylthioadenosine phosphorylase (MTAP) gene deletion and lack of protein expression are associated with poor prognosis in mantle cell lymphoma.
16631464 The frequency of Methylthioadenosine phosphorylase (MTAP) deletions in conventional, grade II chondrosarcomas by fluorescence in situ hybridization (FISH) analysis was investigated.
16618910 Selective loss at the 3' end of MTAP was observed in head and neck squamous cell carcinoma cell line UMSCC-11A.
16081515 MTAP inactivation is associated with hepatocellular carcinoma development and invasiveness
15832197 Results demonstrated concordant loss of MTAP and p16 protein expression in pancreatic intraepithelial neoplasia.
15662124 MTAP expression is lost in approximately 30% of infiltrating pancreatic cancers and in a lower percentage of other periampullary neoplasms; loss is a result of homozygous deletions encompassing both the MTAP and p16INK4A/CDKN2A genes
15534104 MTAP activity is frequently lost, and ODC activity is frequently elevated in both pancreatic adenocarcinoma and neuroendocrine tumors
15511635 epigenetic mechanisms, involving DNA methylation and histone deacetylation, may play a role in the silencing of MTAP gene expression in hepatocarcinoma
15492751 MTAP is not expressed in normal human colonic epithelium but is strongly upregulated in colon carcinoma.
14506228 Methylthioadenosine phosphorylase regulates ornithine decarboxylase by production of downstream metabolites
12875987 Results suggest an important role of methylthioadenosine phosphorylase inactivation in the development of melanomas.
12438261 Methylthioadenosine phosphorylase, a gene frequently codeleted with p16(cdkN2a/ARF), acts as a tumor suppressor in a breast cancer cell line.
11985785 Observational study of genotype prevalence. (HuGE Navigator)

AA Sequence

PRH                                                                       281 - 283

Text Mined References (72)

PMID Year Title
26751376 2016 Characterization of MTAP Gene Expression in Breast Cancer Patients and Cell Lines.
26656376 2015 Characterization and Prognostic Significance of Methylthioadenosine Phosphorylase Deficiency in Nasopharyngeal Carcinoma.
26088413 2015 Expression of Methylthioadenosine Phosphorylase (MTAP) in Pilocytic Astrocytomas.
25426549 2014 Downregulated MTAP expression in myxofibrosarcoma: A characterization of inactivating mechanisms, tumor suppressive function, and therapeutic relevance.
25416956 2014 A proteome-scale map of the human interactome network.
24969958 2014 MTAP is an independent prognosis marker and the concordant loss of MTAP and p16 expression predicts short survival in non-small cell lung cancer patients.
24324622 2013 Expression and function of methylthioadenosine phosphorylase in chronic liver disease.
23508829 2013 Next-generation-sequencing-based risk stratification and identification of new genes involved in structural and sequence variations in near haploid lymphoblastic leukemia.
23462334 2013 Association between rs10118757(A/G) in methylthioadenosine phosphorylase gene and coronary artery disease in Chinese Hans.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23040436 2012 Lack of expression of MTAP in uncommon T-cell lymphomas.
23000879 2012 Significantly decreased methylthioadenosine phosphorylase expression in malignant melanoma.
22685558 2012 A seven-marker signature and clinical outcome in malignant melanoma: a large-scale tissue-microarray study with two independent patient cohorts.
22464254 2012 Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts.
21985704 2011 Entropy-driven binding of picomolar transition state analogue inhibitors to human 5'-methylthioadenosine phosphorylase.
21983787 2011 Genome-wide association study identifies three new melanoma susceptibility loci.
21962134 2011 Polymorphisms in nevus-associated genes MTAP, PLA2G6, and IRF4 and the risk of invasive cutaneous melanoma.
21606135 2011 A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease.
21412930 2011 Downregulation of methylthioadenosin phosphorylase by homozygous deletion in gastric carcinoma.
21356366 2011 Down-regulation of methylthioadenosine phosphorylase (MTAP) induces progression of hepatocellular carcinoma via accumulation of 5'-deoxy-5'-methylthioadenosine (MTA).
21342647 2011 [Detection of MTAP protein and gene expression in non-small cell lung cancer].
21269460 2011 Initial characterization of the human central proteome.
21135097 2011 Growth and metastases of human lung cancer are inhibited in mouse xenografts by a transition state analogue of 5'-methylthioadenosine phosphorylase.
20934997 2011 The impact of human leukocyte antigen (HLA) micropolymorphism on ligand specificity within the HLA-B*41 allotypic family.
20647408 2010 Melanocytic nevi, nevus genes, and melanoma risk in a large case-control study in the United Kingdom.
20637465 2011 Expression of Chr9p21 genes CDKN2B (p15(INK4b)), CDKN2A (p16(INK4a), p14(ARF)) and MTAP in human atherosclerotic plaque.
20574843 2010 Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations.
20302706 2010 [Association between methylthioadenosine phosphorylase gene single nucleotide polymorphisms and myocardial infarction in Chinese Han ethnicity].
20081810 2010 CDKN2A and MTAP deletions in peritoneal mesotheliomas are correlated with loss of p16 protein expression and poor survival.
19887491 2009 Homozygous deletion of MTAP gene as a poor prognosticator in gastrointestinal stromal tumors.
19665068 2009 ETV6-RUNX1 fusion gene and additional genetic changes in infant leukemia: a genome-wide analysis.
19622299 2009 [Expression of methylthioadenosine phosphorylase (MTAP) gene and demethylation of its promoter in human colorectal cancer].
19578365 2009 Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi.
19578364 2009 Genome-wide association study identifies three loci associated with melanoma risk.
19427650 2009 MTAP gene is associated with ischemic stroke in Chinese Hans.
19272367 2009 MTAP and CDKN2B genes are associated with myocardial infarction in Chinese Hans.
19097084 2009 Direct and tumor microenvironment mediated influences of 5'-deoxy-5'-(methylthio)adenosine on tumor progression of malignant melanoma.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
19001417 2009 Nicotinamide riboside and nicotinic acid riboside salvage in fungi and mammals. Quantitative basis for Urh1 and purine nucleoside phosphorylase function in NAD+ metabolism.
18555557 2009 Immunohistochemical diagnosis of methylthioadenosine phosphorylase (MTAP) deficiency in non-small cell lung carcinoma.
18237276 2008 Redox regulation of methylthioadenosine phosphorylase in liver cells: molecular mechanism and functional implications.
17912432 2007 Methylthioadenosine phosphorylase deficiency in Japanese osteosarcoma patients.
16778103 2006 Lack of methylthioadenosine phosphorylase expression in mantle cell lymphoma is associated with shorter survival: implications for a potential targeted therapy.
16631464 2006 Methylthioadenosine phosphorylase gene deletions are frequently detected by fluorescence in situ hybridization in conventional chondrosarcomas.
16618910 2006 Fine-mapping loss of gene architecture at the CDKN2B (p15INK4b), CDKN2A (p14ARF, p16INK4a), and MTAP genes in head and neck squamous cell carcinoma.
16081515 2006 Promoter-hypermethylation is causing functional relevant downregulation of methylthioadenosine phosphorylase (MTAP) expression in hepatocellular carcinoma.
15832197 2005 Concordant loss of MTAP and p16/CDKN2A expression in pancreatic intraepithelial neoplasia: evidence of homozygous deletion in a noninvasive precursor lesion.
15662124 2005 Homozygous deletion of the MTAP gene in invasive adenocarcinoma of the pancreas and in periampullary cancer: a potential new target for therapy.
15534104 2004 Loss of methylthioadenosine phosphorylase and elevated ornithine decarboxylase is common in pancreatic cancer.
15511635 2004 Methylthioadenosine phosphorylase gene expression is impaired in human liver cirrhosis and hepatocarcinoma.
15492751 2005 Strong expression of methylthioadenosine phosphorylase (MTAP) in human colon carcinoma cells is regulated by TCF1/[beta]-catenin.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15302935 2004 Large-scale characterization of HeLa cell nuclear phosphoproteins.
15164053 2004 DNA sequence and analysis of human chromosome 9.
15122881 2004 Structural comparison of MTA phosphorylase and MTA/AdoHcy nucleosidase explains substrate preferences and identifies regions exploitable for inhibitor design.
14705926 2004 Picomolar transition state analogue inhibitors of human 5'-methylthioadenosine phosphorylase and X-ray structure with MT-immucillin-A.
14506228 2003 Methylthioadenosine phosphorylase regulates ornithine decarboxylase by production of downstream metabolites.
13511301 1958 Abnormality of the long bones and progressive muscular dystrophy in a family.
12875987 2003 Characterization of methylthioadenosin phosphorylase (MTAP) expression in malignant melanoma.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12438261 2002 Methylthioadenosine phosphorylase, a gene frequently codeleted with p16(cdkN2a/ARF), acts as a tumor suppressor in a breast cancer cell line.
11985785 2002 Deletion of dinucleotide repeat (Delta 14 allele) in the methylthioadenosine phosphorylase (MTAP) promoter and the allelotype of MTAP promoter in the Japanese population.
11895909 2002 Methylthioadenosine phosphorylase gene deletions are common in osteosarcoma.
11566337 2001 Identification of a 1.2 Kb cDNA fragment from a region on 9p21 commonly deleted in multiple tumor types.
11126361 2000 A methylthioadenosine phosphorylase (MTAP) fusion transcript identifies a new gene on chromosome 9p21 that is frequently deleted in cancer.
10404592 1999 The structure of human 5'-deoxy-5'-methylthioadenosine phosphorylase at 1.7 A resolution provides insights into substrate binding and catalysis.
10053015 1999 Diaphyseal medullary stenosis with malignant fibrous histiocytoma: a hereditary bone dysplasia/cancer syndrome maps to 9p21-22.
8687427 1996 Purification and characterization of recombinant human 5'-methylthioadenosine phosphorylase: definite identification of coding cDNA.
8650244 1996 Genomic cloning of methylthioadenosine phosphorylase: a purine metabolic enzyme deficient in multiple different cancers.
7604019 1995 Construction of a 2.8-megabase yeast artificial chromosome contig and cloning of the human methylthioadenosine phosphorylase gene from the tumor suppressor region on 9p21.
6425836 1984 Assignment of the gene for methylthioadenosine phosphorylase to human chromosome 9 by mouse-human somatic cell hybridization.
3091600 1986 Purification and characterization of 5'-deoxy-5'-methylthioadenosine phosphorylase from human placenta.