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Details of MTAP gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| MTAP | MSAP | Q13126 | MTAP_HUMAN | 4507 | ENSG00000099810 | S-methyl-5'-thioadenosine phosphorylase | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| 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. 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). | 112250 | 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. | 112250 | ||||||
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Mtap | FBgn0034215 | B0228.7 | Sp-Mtap | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| MTAP | ARF4 | 0.131713885 | MTAP | ARF4 | cpx204 | no | no | no | Novel |
| MTAP | ASS1 | 0.373753998 | MTAP | ASS1 | cpx149 | no | no | no | Novel |
| MTAP | FAM49B | 0.106260757 | MTAP | FAM49B | cpx69 | no | no | no | Novel |
| MTAP | KYNU | 0.065191231 | MTAP | KYNU | cpx149 | no | no | no | Novel |
| DAZAP1 | MTAP | 0.200338095 | DAZAP1 | MTAP | cpx204 | no | no | no | Novel |
| MTAP | TALDO1 | 0.143936432 | MTAP | TALDO1 | cpx69 | no | no | no | Novel |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| MTAP | SNX12 | 0.107850902 | MTAP | SNX12 |
| CNN2 | MTAP | 0.07831082 | CNN2 | MTAP |
| MTAP | PCMT1 | 0.083173964 | MTAP | PCMT1 |
| MTAP | GLRX | 0.087853257 | MTAP | GLRX |
| MTAP | EIF2B1 | 0.390041821 | MTAP | EIF2B1 |
| MTAP | UBE2D2 | 0.073080174 | MTAP | UBE2D2 |
| MTAP | RBM12 | 0.076112688 | MTAP | RBM12 |
| MTAP | TAGLN3 | 0.073725422 | MTAP | TAGLN3 |
| MTAP | CSE1L | 0.074397093 | MTAP | CSE1L |
| MTAP | UFM1 | 0.103744237 | MTAP | UFM1 |
| MTAP | GNPDA2 | 0.106262759 | MTAP | GNPDA2 |
| MTAP | SUMO3 | 0.141107122 | MTAP | SUMO3 |
| MTAP | HINT1 | 0.107424138 | MTAP | HINT1 |
| MTAP | TAGLN2 | 0.135323632 | MTAP | TAGLN2 |
| MTAP | SNX3 | 0.105069868 | MTAP | SNX3 |
| MTAP | PPIL3 | 0.10147354 | MTAP | PPIL3 |
| MTAP | CARKD | 0.075326593 | MTAP | CARKD |
| MTAP | LYPLA2 | 0.073215953 | MTAP | LYPLA2 |
| MTAP | SUMO4 | 0.134971013 | MTAP | SUMO4 |