| Gene Symbol |
MYOC
|
| Entrez Gene |
4653
|
| Alt Symbol |
GLC1A, GPOA, JOAG, JOAG1, TIGR, myocilin
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
myocilin, trabecular meshwork inducible glucocorticoid response
|
| Other Description |
mutated trabecular meshwork-induced glucocorticoid response protein|myocilin|myocilin 55 kDa subunit
|
| Swissprots |
O00620 Q7Z6Q9 B2RD84 Q99972
|
| Accessions |
AAC14264 AAT09137 BAA24532 CAB09899 EAW90903 Q99972 AF001620 AAC51725 AK097310 BAC04997 AK300924 BAG62556 AK300943 BAG62572 AK301297 BAG62854 AK315443 BAG37831 BC029261 AAH29261 D88214 BAA23531 DQ892415 ABM83341 DQ895629 ABM86555 FJ227302 ACI42983 FJ237046 ACI62292 FJ237047 ACI62293 U85257 AAC52051 NM_000261 NP_000252
|
| Function |
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-assoc
|
| Subcellular Location |
Myocilin, N-terminal fragment: Endoplasmic reticulum. Note=Remains retained in the endoplasmic reticulum.
|
| Tissue Specificity |
Expressed in large amounts in various types of muscle, ciliary body, papillary sphincter, skeletal muscle, heart, bone marrow-derived mesenchymal stem cells and other tissues. Expressed predominantly in the retina. In normal eyes, found in the inner uveal meshwork region and the anterior portion of the meshwork. In contrast, in many glaucomatous eyes, it is found in more regions of the meshwork and appeared more intensively than in normal eyes, regardless of the type or clinical severity of glaucoma. The myocilin 35 kDa fragment is detected in aqueous humor and at the less extend in iris and ciliary body. {ECO:0000269|PubMed:15795224}.
|