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 ... See more...

Aliases for MTAP Gene

Aliases for MTAP Gene

  • Methylthioadenosine Phosphorylase 2 3 5
  • S-Methyl-5'-Thioadenosine Phosphorylase 2 3 4
  • MSAP 2 3 4
  • 5'-Methylthioadenosine Phosphorylase 3 4
  • MTA Phosphorylase 3 4
  • MTAPase 3 4
  • C86fus 2 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Epididymis Luminal Protein 249 3
  • MeSAdo Phosphorylase 3
  • EC 2.4.2.28 4
  • HEL-249 3
  • DMSMFH 3
  • DMSFH 3
  • LGMBF 3
  • BDMF 3
  • MTAP 5

External Ids for MTAP Gene

Previous GeneCards Identifiers for MTAP Gene

  • GC09P022130
  • GC09P022003

Summaries for MTAP Gene

Entrez Gene Summary for MTAP 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. Multiple alternatively spliced transcript variants have been described for this gene, but their full-length natures remain unknown. [provided by RefSeq, Jul 2008]

CIViC Summary for MTAP Gene

GeneCards Summary for MTAP Gene

MTAP (Methylthioadenosine Phosphorylase) is a Protein Coding gene. Diseases associated with MTAP include Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma and Malignant Fibrous Histiocytoma. Among its related pathways are Viral mRNA Translation and Regulation of activated PAK-2p34 by proteasome mediated degradation. Gene Ontology (GO) annotations related to this gene include phosphorylase activity and S-methyl-5-thioadenosine phosphorylase activity. An important paralog of this gene is ENSG00000264545.

UniProtKB/Swiss-Prot Summary for MTAP Gene

  • 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 methionine salvage pathway after MTA has been generated from S-adenosylmethionine. Has broad substrate specificity with 6-aminopurine nucleosides as preferred substrates.

Gene Wiki entry for MTAP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTAP Gene

Genomics for MTAP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MTAP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J021801 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 620.1 +0.4 426 3.9 SP1 HNRNPL GATAD2A TEAD4 PRDM10 TFE3 SOX13 ZNF7 BACH1 LARP7 MTAP ENSG00000264545 NONHSAG051893.2-001 NONHSAG051893.2-002 lnc-CDKN2A-2 CDKN2A CDKN2B-AS1 TUBB8P1
GH09J021852 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 624.7 +52.4 52365 5.2 GATAD2A TCF12 IKZF2 SP1 POLR2A PKNOX1 CEBPA SOX13 RFX3 ARID3A MTAP CDKN2B-AS1 CDKN2A ENSG00000265194 piR-61101-675 ENSG00000264545
GH09J021818 Promoter/Enhancer 0.5 EPDnew dbSUPER 600.4 +15.5 15499 0.1 piR-61101-675 MTAP UBA52P6 CDKN2B TUBB8P1 ENSG00000264545 CDKN2A
GH09J021865 Promoter 0.4 EPDnew 600.2 +63.1 63101 0.1 SCRT2 MTAP ENSG00000265194 ENSG00000279670 ENSG00000264545 CDKN2A
GH09J021862 Promoter 0.3 EPDnew 600.2 +59.8 59770 0.1 ENSG00000265194 MTAP ENSG00000279670 ENSG00000264545 CDKN2A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTAP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTAP

Top Transcription factor binding sites by QIAGEN in the MTAP gene promoter:
  • AP-4
  • AREB6
  • ATF
  • FOXO1
  • FOXO1a
  • GATA-1
  • HNF-3beta
  • IRF-7A
  • Lmo2
  • LUN-1

Genomic Locations for MTAP Gene

Genomic Locations for MTAP Gene
chr9:21,802,636-21,937,651
(GRCh38/hg38)
Size:
135,016 bases
Orientation:
Plus strand
chr9:21,802,542-21,931,646
(GRCh37/hg19)
Size:
129,105 bases
Orientation:
Plus strand

Genomic View for MTAP Gene

Genes around MTAP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTAP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTAP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTAP Gene

Proteins for MTAP Gene

  • Protein details for MTAP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13126-MTAP_HUMAN
    Recommended name:
    S-methyl-5'-thioadenosine phosphorylase
    Protein Accession:
    Q13126
    Secondary Accessions:
    • I2G7M5
    • I2G7M6
    • I2G7M7
    • I2G7M8
    • I2G7M9
    • I2G7N0
    • Q5T3P3
    • Q9H010

    Protein attributes for MTAP Gene

    Size:
    283 amino acids
    Molecular mass:
    31236 Da
    Quaternary structure:
    • Homotrimer.

    Three dimensional structures from OCA and Proteopedia for MTAP Gene

    Alternative splice isoforms for MTAP Gene

neXtProt entry for MTAP Gene

Post-translational modifications for MTAP Gene

  • Ubiquitination at Lys40 and Lys71
  • Modification sites at PhosphoSitePlus

Other Protein References for MTAP Gene

No data available for DME Specific Peptides for MTAP Gene

Domains & Families for MTAP Gene

Gene Families for MTAP Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for MTAP Gene

InterPro:
Blocks:
  • Purine (and other) phosphorylase, family 2
ProtoNet:

Suggested Antigen Peptide Sequences for MTAP Gene

GenScript: Design optimal peptide antigens:
  • 5'-methylthioadenosine phosphorylase (MTAP_HUMAN)
  • MTAP protein (Q05DJ2_HUMAN)
  • Methylthioadenosine phosphorylase (Q60F91_HUMAN)
  • MTAP protein (Q6FHP1_HUMAN)
  • MTAP protein (Q6FHT1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13126

UniProtKB/Swiss-Prot:

MTAP_HUMAN :
  • Belongs to the PNP/MTAP phosphorylase family. MTAP subfamily.
Family:
  • Belongs to the PNP/MTAP phosphorylase family. MTAP subfamily.
genes like me logo Genes that share domains with MTAP: view

Function for MTAP Gene

Molecular function for MTAP Gene

UniProtKB/Swiss-Prot 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 methionine salvage pathway after MTA has been generated from S-adenosylmethionine. Has broad substrate specificity with 6-aminopurine nucleosides as preferred substrates.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=phosphate + S-methyl-5'-thioadenosine = adenine + S-methyl-5-thio-alpha-D-ribose 1-phosphate; Xref=Rhea:RHEA:11852, ChEBI:CHEBI:16708, ChEBI:CHEBI:17509, ChEBI:CHEBI:43474, ChEBI:CHEBI:58533; EC=2.4.2.28; Evidence={ECO:0000255|HAMAP-Rule:MF_03155};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=5 uM for S-methyl-5'-thioadenosine {ECO:0000269|PubMed:3091600, ECO:0000269|PubMed:8687427}; KM=580 uM for phosphate {ECO:0000269|PubMed:3091600, ECO:0000269|PubMed:8687427}; KM=23 uM for adenine {ECO:0000269|PubMed:3091600, ECO:0000269|PubMed:8687427}; KM=8 uM for S-methyl-5-thio-alpha-D-ribose 1-phosphate {ECO:0000269|PubMed:3091600, ECO:0000269|PubMed:8687427}; pH dependence: Optimum pH is 7.2-7.6. {ECO:0000269|PubMed:3091600, ECO:0000269|PubMed:8687427};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by 5'-methylthiotubercin and 5'-chloroformycin.
GENATLAS Biochemistry:
methylthioadenosine phosphorylase,purine catabolic pathway,often co-deleted with CDKN2A in adult acute T cell type leukemia

Enzyme Numbers (IUBMB) for MTAP Gene

Phenotypes From GWAS Catalog for MTAP Gene

Gene Ontology (GO) - Molecular Function for MTAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004645 phosphorylase activity TAS 8687427
GO:0004731 purine-nucleoside phosphorylase activity IEA,IBA 21873635
GO:0005515 protein binding IPI 25416956
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with MTAP: view
genes like me logo Genes that share phenotypes with MTAP: view

Human Phenotype Ontology for MTAP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for MTAP

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTAP

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for MTAP Gene

Localization for MTAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTAP Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTAP gene
Compartment Confidence
cytosol 5
extracellular 4
nucleus 4
mitochondrion 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MTAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with MTAP: view

Pathways & Interactions for MTAP Gene

genes like me logo Genes that share pathways with MTAP: view

Pathways by source for MTAP Gene

UniProtKB/Swiss-Prot Q13126-MTAP_HUMAN

  • Pathway: Amino-acid biosynthesis; L-methionine biosynthesis via salvage pathway; S-methyl-5-thio-alpha-D-ribose 1-phosphate from S-methyl-5'-thioadenosine (phosphorylase route): step 1/1.

Interacting Proteins for MTAP Gene

Gene Ontology (GO) - Biological Process for MTAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process TAS 8687427
GO:0006166 purine ribonucleoside salvage IEA --
GO:0006738 NOT nicotinamide riboside catabolic process IDA 19001417
GO:0009116 nucleoside metabolic process IEA --
GO:0019509 L-methionine salvage from methylthioadenosine TAS --
genes like me logo Genes that share ontologies with MTAP: view

No data available for SIGNOR curated interactions for MTAP Gene

Drugs & Compounds for MTAP Gene

(31) Drugs for MTAP Gene - From: DrugBank, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenine Approved Nutra Target 0
Docetaxel Approved, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 2330
Gemcitabine Approved Pharma Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 2451
Paclitaxel Approved, Vet_approved Pharma Tubulin and Bcl2 inhibitor, Taxanes 3701
Phosphoric acid Approved Pharma 0

(17) Additional Compounds for MTAP Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-Methylthioribose 1-phosphate
  • 1-phospho-5-S-Methylthioribose
  • 1-Phosphomethylthioribose
  • 5-methylthio-5-Deoxy-D-ribose 1-phosphate
  • 5-methylthio-5-Deoxy-D-ribose-1-phosphate
  • 5-methylthio-D-Ribose-1-phosphate
72843-83-5
N1-acetylspermine
  • N'-acetylspermine
  • N'-monoacetylspermine
  • N(1)-Acetylspermine
  • N-(3-((4-((3-Aminopropyl)amino)butyl)amino)propyl)-acetamide
  • N-Acetylspermine
25593-72-0
Norspermidine
  • 1,7-diamino-4-Azaheptane
  • 3,3'-Iminobis(propylamine)
  • 3,3'-Iminobispropylamine
  • 3,3'-Iminodi(propylamine)
  • 3,3-Diaminodipropylamine
56-18-8
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with MTAP: view

Transcripts for MTAP Gene

mRNA/cDNA for MTAP Gene

1 REFSEQ mRNAs :
27 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTAP

Alternative Splicing Database (ASD) splice patterns (SP) for MTAP Gene

No ASD Table

Relevant External Links for MTAP Gene

GeneLoc Exon Structure for
MTAP

Expression for MTAP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MTAP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MTAP Gene

This gene is overexpressed in Bone (11.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MTAP Gene



Protein tissue co-expression partners for MTAP Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MTAP

SOURCE GeneReport for Unigene cluster for MTAP Gene:

Hs.193268

mRNA Expression by UniProt/SwissProt for MTAP Gene:

Q13126-MTAP_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for MTAP Gene

  • Nervous system(4.6)
  • Skin(4.5)
  • Intestine(4.5)
  • Blood(2.5)
  • Heart(2.3)
  • Liver(2.3)
  • Pancreas(2.1)
  • Muscle(2.1)
  • Lymph node(2)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MTAP Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • immune
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • bone marrow
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with MTAP: view

No data available for mRNA differential expression in normal tissues for MTAP Gene

Orthologs for MTAP Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MTAP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MTAP 30 31
  • 99.76 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 31
  • 94 (a)
OneToMany
MTAP 30
  • 91.99 (n)
Cow
(Bos Taurus)
Mammalia MTAP 30
  • 91.87 (n)
-- 31
  • 88 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Mtap 30 17 31
  • 87.63 (n)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 87 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 86 (a)
OneToMany
Chicken
(Gallus gallus)
Aves MTAP 30 31
  • 78.22 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 82 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mtap 30
  • 75.27 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12878 30
Zebrafish
(Danio rerio)
Actinopterygii mtap 30 31
  • 72.16 (n)
OneToMany
zgc66012 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9882 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG4802 30 31 32
  • 60.46 (n)
ManyToMany
CG31115 31
  • 41 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005129 30
  • 59.46 (n)
Worm
(Caenorhabditis elegans)
Secernentea B0228.7 30 31 32
  • 51.73 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F15664g 30
  • 48.23 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MEU1 30 31
  • 46.85 (n)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU03963 30
  • 50.6 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC16C9.02c 30
  • 50.55 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7181 31
  • 44 (a)
OneToMany
Species where no ortholog for MTAP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MTAP Gene

ENSEMBL:
Gene Tree for MTAP (if available)
TreeFam:
Gene Tree for MTAP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MTAP: view image

Paralogs for MTAP Gene

Paralogs for MTAP Gene

Pseudogenes.org Pseudogenes for MTAP Gene

genes like me logo Genes that share paralogs with MTAP: view

Variants for MTAP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTAP Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
638349 Uncertain Significance: Diaphyseal medullary stenosis-bone malignancy syndrome 21,854,752(+) C/T MISSENSE_VARIANT
757732 Likely Benign: not provided 21,854,625(+) T/C INTRON_VARIANT
912323 Uncertain Significance: Diaphyseal medullary stenosis-bone malignancy syndrome 21,862,317(+) G/A THREE_PRIME_UTR_VARIANT
912324 Uncertain Significance: Diaphyseal medullary stenosis-bone malignancy syndrome 21,862,409(+) A/G THREE_PRIME_UTR_VARIANT
912372 Uncertain Significance: Diaphyseal medullary stenosis-bone malignancy syndrome 21,863,850(+) C/G THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for MTAP Gene

Structural Variations from Database of Genomic Variants (DGV) for MTAP Gene

Variant ID Type Subtype PubMed ID
esv2764150 CNV gain+loss 21179565
esv33626 CNV loss 17666407
esv3619972 CNV loss 21293372
nsv1026981 CNV gain 25217958
nsv8426 CNV loss 18304495
nsv972653 CNV duplication 23825009

Variation tolerance for MTAP Gene

Residual Variation Intolerance Score: 20.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.26; 94.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTAP Gene

Human Gene Mutation Database (HGMD)
MTAP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTAP

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTAP Gene

Disorders for MTAP Gene

MalaCards: The human disease database

(22) MalaCards diseases for MTAP Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MTAP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MTAP_HUMAN
  • Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMSMFH) [MIM:112250]: An autosomal dominant bone dysplasia characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis. The fractures heal poorly, and there is progressive bowing of the lower extremities. Some patients show a limb-girdle myopathy, with muscle weakness and atrophy. Approximately 35% of affected individuals develop an aggressive form of bone sarcoma consistent with malignant fibrous histiocytoma or osteosarcoma. {ECO:0000269 PubMed:22464254}. Note=The disease is caused by mutations affecting the gene represented in this entry. DMSMFH causing mutations found in MTAP exon 9 result in exon skipping and dysregulated alternative splicing of all MTAP isoforms (PubMed:22464254). {ECO:0000269 PubMed:22464254}.
  • Note=Loss of MTAP activity may play a role in human cancer. MTAP loss has been reported in a number of cancers, including osteosarcoma, malignant melanoma and gastric cancer.

Additional Disease Information for MTAP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MTAP: view

No data available for Genatlas for MTAP Gene

Publications for MTAP Gene

  1. Homozygous deletion of MTAP gene as a poor prognosticator in gastrointestinal stromal tumors. (PMID: 19887491) Huang HY … Li CF (Clinical cancer research : an official journal of the American Association for Cancer Research 2009) 3 23 41
  2. MTAP and CDKN2B genes are associated with myocardial infarction in Chinese Hans. (PMID: 19272367) Yang XC … Wang XF (Clinical biochemistry 2009) 3 23 41
  3. MTAP gene is associated with ischemic stroke in Chinese Hans. (PMID: 19427650) Li SJ … Wang XF (Journal of the neurological sciences 2009) 3 23 41
  4. Genome-wide association study identifies three loci associated with melanoma risk. (PMID: 19578364) Bishop DT … Bishop JA (Nature genetics 2009) 3 23 41
  5. ETV6-RUNX1 fusion gene and additional genetic changes in infant leukemia: a genome-wide analysis. (PMID: 19665068) Emerenciano M … Pombo-de-Oliveira MS (Cancer genetics and cytogenetics 2009) 3 23 41

Products for MTAP Gene

  • Signalway ELISA kits for MTAP
  • Signalway Proteins for MTAP

Sources for MTAP Gene