Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4507
Gene name Gene Name - the full gene name approved by the HGNC.
Methylthioadenosine phosphorylase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MTAP
Synonyms (NCBI Gene) Gene synonyms aliases
BDMF, DMSFH, DMSMFH, HEL-249, LGMBF, MSAP, c86fus
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p21.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT000961 hsa-miR-21-5p Western blot, Northern 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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
156540 7413 ENSG00000099810
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Diaphyseal Medullary Stenosis-Bone Malignancy Syndrome diaphyseal medullary stenosis-bone malignancy syndrome rs2131048129, rs2131048008 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Carcinoma Basal cell carcinoma N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Diabetes Type 2 diabetes mellitus or coronary artery disease (pleiotropy), Type 2 diabetes mellitus adjusted for BMI or coronary artery disease (pleiotropy), Type 2 diabetes N/A N/A GWAS
Hyperopia Hyperopia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acrospiroma Associate 35963436
Adenocarcinoma Inhibit 35747993
Adenocarcinoma of Lung Associate 31965001, 40138743
Adenoma Associate 23361049
Astrocytoma Associate 27172220, 33077924, 37032198, 38019246
Biliary Tract Diseases Associate 40138743
Breast Neoplasms Associate 14506228, 20513530, 22522925, 26751376, 32570693, 36361596, 36913304
Brenner Tumor Associate 31695154
Calcinosis Cutis Associate 29268653
Carcinogenesis Associate 17552003, 27929028