| Tbio | Myocilin |
Secreted glycoprotein regulating the activation of different signaling pathways in adjacent cells to control different processes including cell adhesion, cell-matrix adhesion, cytoskeleton organization and cell migration. Promotes substrate adhesion, spreading and formation of focal contacts. Negatively regulates cell-matrix adhesion and stress fiber assembly through Rho protein signal transduction. Modulates the organization of actin cytoskeleton by stimulating the formation of stress fibers through interactions with components of Wnt signaling pathways. Promotes cell migration through activation of PTK2 and the downstream phosphatidylinositol 3-kinase signaling. Plays a role in bone formation and promotes osteoblast differentiation in a dose-dependent manner through mitogen-activated protein kinase signaling. Mediates myelination in the peripheral nervous system through ERBB2/ERBB3 signaling. Plays a role as a regulator of muscle hypertrophy through the components of dystrophin-associated protein complex. Involved in positive regulation of mitochondrial depolarization. Plays a role in neurite outgrowth. May participate in the obstruction of fluid outflow in the trabecular meshwork.
MYOC encodes the protein myocilin, which is believed to have a role in cytoskeletal function. MYOC is expressed in many occular tissues, including the trabecular meshwork, and was revealed to be the trabecular meshwork glucocorticoid-inducible response protein (TIGR). The trabecular meshwork is a specialized eye tissue essential in regulating intraocular pressure, and mutations in MYOC have been identified as the cause of hereditary juvenile-onset open-angle glaucoma. [provided by RefSeq, Jul 2008]
MYOC encodes the protein myocilin, which is believed to have a role in cytoskeletal function. MYOC is expressed in many occular tissues, including the trabecular meshwork, and was revealed to be the trabecular meshwork glucocorticoid-inducible response protein (TIGR). The trabecular meshwork is a specialized eye tissue essential in regulating intraocular pressure, and mutations in MYOC have been identified as the cause of hereditary juvenile-onset open-angle glaucoma. [provided by RefSeq, Jul 2008]
Comments
Property Summary
| NCBI Gene PubMed Count | 231 |
| Grant Count | 146 |
| R01 Count | 111 |
| Funding | $29,844,368.08 |
| PubMed Score | 459.21 |
| PubTator Score | 589.00 |
| Disease | log2 FC | p |
|---|---|---|
| osteosarcoma | 1.738 | 0.002 |
| medulloblastoma, large-cell | 1.200 | 0.000 |
| breast carcinoma | -1.900 | 0.002 |
| fibroadenoma | -2.400 | 0.049 |
| interstitial cystitis | -2.300 | 0.001 |
| lung adenocarcinoma | -2.300 | 0.000 |
| ductal carcinoma in situ | -2.000 | 0.020 |
| ovarian cancer | 1.200 | 0.000 |
| psoriasis | -2.300 | 0.000 |
| PMID | Text |
|---|---|
| 26497787 | Familial linkage studies for primary angle-closure glaucoma have been performed and identified MYOC causative primary angle-closure glaucoma disease |
| 26396484 | Glaucomatous MYOC mutations activate the IL-1beta/NF-kappaB inflammatory stress response and the glaucoma marker SELE in trabecular meshwork cells. |
| 26313302 | FAs, expression of fibrogenic markers, and myocilin in HTM cells. These characteristics of Hic-5 in TM cells indicate its importance in regulation of AH outflow through the TM in both normal and glaucomatous eyes. |
| 26237198 | All POAG samples underwent full sequencing of the MYOC gene, and we found a sensitivity of 100%, specificity of 99.91%, positive predictive value of 95.65%, and negative predictive value of 100% between imputation and sequencing. |
| 26095806 | A novel heterozygous missense mutation c.761C<G(p.P254R) in the MYOC gene was identified as being co-segregated with the primary open-angle glaucoma phenotype in this family. |
| 25777973 | Secondary structure prediction of the Ser341Pro MYOC gene mutation suggested that the MYOC protein was misfolded. |
| 25711070 | According to molecular genetic studies, MYOC causative gene involved in the development of Primary open-angle glaucoma. |
| 25582056 | Data show that predictive genetic testing for early onset Myocilin glaucoma can facilitate early detection of disease or discharge from routine ophthalmic examinations. |
| 25524706 | Mutations in myoc ofactomedin domain are causative in the autosomal dominant inherited form of the prevalent ocular disorder glaucoma. |
| 25450062 | The data suggest that the DEX-induced increase in MYOC expression activates a calcineurin and NFATc1 pathway in a calcium independent mechanism. |
| More... |
MRFFCARCCSFGPEMPAVQLLLLACLVWDVGARTAQLRKANDQSGRCQYTFSVASPNESSCPEQSQAMSV 1 - 70 IHNLQRDSSTQRLDLEATKARLSSLESLLHQLTLDQAARPQETQEGLQRELGTLRRERDQLETQTRELET 71 - 140 AYSNLLRDKSVLEEEKKRLRQENENLARRLESSSQEVARLRRGQCPQTRDTARAVPPGSREVSTWNLDTL 141 - 210 AFQELKSELTEVPASRILKESPSGYLRSGEGDTGCGELVWVGEPLTLRTAETITGKYGVWMRDPKPTYPY 211 - 280 TQETTWRIDTVGTDVRQVFEYDLISQFMQGYPSKVHILPRPLESTGAVVYSGSLYFQGAESRTVIRYELN 281 - 350 TETVKAEKEIPGAGYHGQFPYSWGGYTDIDLAVDEAGLWVIYSTDEAKGAIVLSKLNPENLELEQTWETN 351 - 420 IRKQSVANAFIICGTLYTVSSYTSADATVNFAYDTGTGISKTLTIPFKNRYKYSSMIDYNPLEKKLFAWD 421 - 490 NLNMVTYDIKLSKM 491 - 504 //
| PMID | Year | Title |
|---|---|---|
| 26871637 | 2016 | Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. |
| 26497787 | 2015 | Advances in glaucoma genetics. |
| 26396484 | 2015 | Glaucomatous MYOC mutations activate the IL-1/NF-?B inflammatory stress response and the glaucoma marker SELE in trabecular meshwork cells. |
| 26313302 | 2015 | Hic-5 Regulates Actin Cytoskeletal Reorganization and Expression of Fibrogenic Markers and Myocilin in Trabecular Meshwork Cells. |
| 26237198 | 2015 | Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma. |
| 26095806 | 2015 | Identification of a novel MYOC mutation in a Chinese family with primary open-angle glaucoma. |
| 25777973 | 2015 | Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma. |
| 25711070 | [Genetic studies of primary open-angle glaucoma]. | |
| 25582056 | 2015 | Predictive genetic testing in minors for Myocilin juvenile onset open angle glaucoma. |
| 25524706 | 2015 | Structural basis for misfolding in myocilin-associated glaucoma. |
| More... |
