MTAP (methylthioadenosine phosphorylase)

2013-06-01  

Identity

HGNC
LOCATION
9p21.3
LOCUSID
ALIAS
BDMF,DMSFH,DMSMFH,HEL-249,LGMBF,MSAP,c86fus
FUSION GENES

Other Information

Locus ID:

NCBI: 4507
MIM: 156540
HGNC: 7413
Ensembl: ENSG00000099810

Variants:

dbSNP: 4507
ClinVar: 4507
TCGA: ENSG00000099810
COSMIC: MTAP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000099810ENST00000419385F8WES2
ENSG00000099810ENST00000427788A0A2R8Y4K0
ENSG00000099810ENST00000460874B4DUC8
ENSG00000099810ENST00000577563J3KRN1
ENSG00000099810ENST00000580718J3QSB7
ENSG00000099810ENST00000580900Q13126
ENSG00000099810ENST00000644715Q13126
ENSG00000099810ENST00000644715A0A384ME80

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Cysteine and methionine metabolismKEGGko00270
Cysteine and methionine metabolismKEGGhsa00270
Metabolic pathwaysKEGGhsa01100
Methionine salvage pathwayKEGGhsa_M00034
Methionine salvage pathwayKEGGM00034
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Metabolism of polyaminesREACTOMER-HSA-351202
Methionine salvage pathwayREACTOMER-HSA-1237112
Sulfur amino acid metabolismREACTOMER-HSA-1614635

References

Pubmed IDYearTitleCitations
195783652009Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi.94
270684732016MTAP Deletions in Cancer Create Vulnerability to Targeting of the MAT2A/PRMT5/RIOK1 Axis.53
124382612002Methylthioadenosine phosphorylase, a gene frequently codeleted with p16(cdkN2a/ARF), acts as a tumor suppressor in a breast cancer cell line.49
206374652011Expression of Chr9p21 genes CDKN2B (p15(INK4b)), CDKN2A (p16(INK4a), p14(ARF)) and MTAP in human atherosclerotic plaque.37
211350972011Growth and metastases of human lung cancer are inhibited in mouse xenografts by a transition state analogue of 5'-methylthioadenosine phosphorylase.37
128759872003Characterization of methylthioadenosin phosphorylase (MTAP) expression in malignant melanoma.36
156621242005Homozygous deletion of the MTAP gene in invasive adenocarcinoma of the pancreas and in periampullary cancer: a potential new target for therapy.32
158321972005Concordant loss of MTAP and p16/CDKN2A expression in pancreatic intraepithelial neoplasia: evidence of homozygous deletion in a noninvasive precursor lesion.32
206474082010Melanocytic nevi, nevus genes, and melanoma risk in a large case-control study in the United Kingdom.31
160815152006Promoter-hypermethylation is causing functional relevant downregulation of methylthioadenosine phosphorylase (MTAP) expression in hepatocellular carcinoma.26

Citation

Dessen P

MTAP (methylthioadenosine phosphorylase)

Atlas Genet Cytogenet Oncol Haematol. 2013-06-01

Online version: http://atlasgeneticsoncology.org/gene/53357/mtap