Gene: MTAP

Alternate names for this Gene: BDMF|DMSFH|DMSMFH|HEL-249|LGMBF|MSAP|c86fus

Gene Summary: This gene encodes an enzyme that plays a major role in polyamine metabolism and is important for the salvage of both adenine and methionine. The encoded enzyme is deficient in many cancers because this gene and the tumor suppressor p16 gene are co-deleted. Multiple alternatively spliced transcript variants have been described for this gene, but their full-length natures remain unknown.

Gene is located in Chromosome: 9

Location in Chromosome : 9p21.3

Description of this Gene: methylthioadenosine phosphorylase

Type of Gene: protein-coding

rs885518 in MTAP gene and Adenocarcinoma of lung (disorder) PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

rs67134687 in MTAP gene and Adverse effects, not elsewhere classified PMID 30420678 2019 Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records.

rs11532907 in MTAP gene and Cutaneous Melanoma PMID 30429480 2018 Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

rs4364717 in MTAP gene and Diastolic blood pressure PMID 28135244 2017 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.

rs7851133 in MTAP gene and Esophageal Neoplasms PMID 22960999 2012 Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.

rs185224597 in MTAP gene and Forced expiratory volume function PMID 26423011 2015 Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank.

rs11532907 in MTAP gene and Malignant melanoma of skin of lower limb PMID 30429480 2018 Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

rs11532907 in MTAP gene and Malignant melanoma of skin of upper limb PMID 30429480 2018 Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

rs7023329 in MTAP gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs10811625 in MTAP gene and Nevus PMID 19578365 2009 Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi.

rs10757257 in MTAP gene and melanoma PMID 21706340 2012 A unique genome-wide association analysis in extended Utah high-risk pedigrees identifies a novel melanoma risk variant on chromosome arm 10q.

PMID 28212542 2017 Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma.

PMID 21983787 2011 Genome-wide association study identifies three new melanoma susceptibility loci.

PMID 19578364 2009 Genome-wide association study identifies three loci associated with melanoma risk.