| Tbio | Myotubularin |
Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). Has also been shown to dephosphorylate phosphotyrosine- and phosphoserine-containing peptides. Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome. Plays a role in vacuolar formation and morphology. Regulates desmin intermediate filament assembly and architecture. Plays a role in mitochondrial morphology and positioning. Required for skeletal muscle maintenance but not for myogenesis.
This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008]
This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Myopathies, Structural, Congenital | 15 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| ependymoma | 4679 | 4.0e-06 |
| tuberculosis | 2010 | 4.2e-06 |
| ulcerative colitis | 1819 | 3.2e-05 |
| medulloblastoma, large-cell | 6241 | 2.2e-04 |
| psoriasis | 6694 | 5.6e-04 |
| colon cancer | 1478 | 5.9e-04 |
| lung cancer | 4740 | 9.7e-04 |
| group 4 medulloblastoma | 1855 | 1.2e-03 |
| osteosarcoma | 7950 | 2.6e-03 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3291 | 3.2e-03 |
| intraductal papillary-mucinous carcinoma (IPMC) | 2989 | 1.0e-02 |
| Disease | Target Count |
|---|---|
| X-linked centronuclear myopathy | 2 |
| Disease | log2 FC | p |
|---|---|---|
| colon cancer | -1.300 | 5.9e-04 |
| ependymoma | 1.200 | 4.0e-06 |
| group 4 medulloblastoma | -1.300 | 1.2e-03 |
| intraductal papillary-mucinous carcinoma... | 1.300 | 1.0e-02 |
| intraductal papillary-mucinous neoplasm ... | 1.200 | 3.2e-03 |
| lung cancer | -2.000 | 9.7e-04 |
| medulloblastoma, large-cell | -1.600 | 2.2e-04 |
| osteosarcoma | -1.510 | 2.6e-03 |
| psoriasis | -1.200 | 5.6e-04 |
| tuberculosis | 1.300 | 4.2e-06 |
| ulcerative colitis | -1.300 | 3.2e-05 |
MASASTSKYNSHSLENESIKRTSRDGVNRDLTEAVPRLPGETLITDKEVIYICPFNGPIKGRVYITNYRL 1 - 70 YLRSLETDSSLILDVPLGVISRIEKMGGATSRGENSYGLDITCKDMRNLRFALKQEGHSRRDMFEILTRY 71 - 140 AFPLAHSLPLFAFLNEEKFNVDGWTVYNPVEEYRRQGLPNHHWRITFINKCYELCDTYPALLVVPYRASD 141 - 210 DDLRRVATFRSRNRIPVLSWIHPENKTVIVRCSQPLVGMSGKRNKDDEKYLDVIRETNKQISKLTIYDAR 211 - 280 PSVNAVANKATGGGYESDDAYHNAELFFLDIHNIHVMRESLKKVKDIVYPNVEESHWLSSLESTHWLEHI 281 - 350 KLVLTGAIQVADKVSSGKSSVLVHCSDGWDRTAQLTSLAMLMLDSFYRSIEGFEILVQKEWISFGHKFAS 351 - 420 RIGHGDKNHTDADRSPIFLQFIDCVWQMSKQFPTAFEFNEQFLIIILDHLYSCRFGTFLFNCESARERQK 421 - 490 VTERTVSLWSLINSNKEKFKNPFYTKEINRVLYPVASMRHLELWVNYYIRWNPRIKQQQPNPVEQRYMEL 491 - 560 LALRDEYIKRLEELQLANSAKLSDPPTSPSSPSQMMPHVQTHF 561 - 603 //
