Gene Gene information from NCBI Gene database.
Entrez ID 4507
Gene name Methylthioadenosine phosphorylase
Gene symbol MTAP
Synonyms (NCBI Gene)
BDMFDMSFHDMSMFHHEL-249LGMBFMSAPc86fus
Chromosome 9
Chromosome location 9p21.3
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
miRNA miRNA information provided by mirtarbase database.
464
miRTarBase ID miRNA Experiments Reference
MIRT000961 hsa-miR-21-5p Western blotNorthern blot 19013014
MIRT000961 hsa-miR-21-5p qRT-PCR 19013014
MIRT000961 hsa-miR-21-5p Luciferase reporter assay 19013014
MIRT020610 hsa-miR-155-5p Proteomics 18668040
MIRT025319 hsa-miR-34a-5p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0004645 Function 1,4-alpha-oligoglucan phosphorylase activity TAS 8687427
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
156540 7413 ENSG00000099810
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13126
Protein name S-methyl-5'-thioadenosine phosphorylase (EC 2.4.2.28) (5'-methylthioadenosine phosphorylase) (MTA phosphorylase) (MTAP) (MTAPase)
Protein function Catalyzes the reversible phosphorylation of S-methyl-5'-thioadenosine (MTA) to adenine and 5-methylthioribose-1-phosphate. Involved in the breakdown of MTA, a major by-product of polyamine biosynthesis. Responsible for the first step in the meth
PDB 1CB0 , 1CG6 , 1K27 , 1SD1 , 1SD2 , 3LN5 , 3OZC , 3OZD , 3OZE , 5EUB , 5TC5 , 5TC6 , 5TC7 , 5TC8 , 6DYZ , 6DZ0 , 6DZ2 , 6DZ3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01048 PNP_UDP_1 11 256 Phosphorylase superfamily Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed.
Sequence
Sequence length 283
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cysteine and methionine metabolism
Metabolic pathways
  Methionine salvage pathway
Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
40
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Diaphyseal medullary stenosis-bone malignancy syndrome Pathogenic rs2131048129, rs2131048008 RCV000022659
RCV000022660
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BASAL CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphoblastic leukemia with lymphomatous features Lymphoblastic Leukemia With Lymphomatous Features BEFREE 3925340
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 16818274, 21414664, 23040436, 7683574, 8874207
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 30473463, 31539805, 31774228
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 15534104, 16224217
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 15534104
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 16224217
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma GWASCAT_DG 28604730
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 15534104, 15662124
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 15492751
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 23361049
★☆☆☆☆
Found in Text Mining only