AlphaFold predicted structure
MYOC · Q99972

Mean pLDDT
78.9/ 100
Confident
504 residues
Confidence breakdown
- Very high(≥ 90)52%
- Confident(70–90)21%
- Low(50–70)8%
- Very low(< 50)19%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
myocilin
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
Glaucoma (developmental)
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedStructural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedRetinal disorders
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownglaucoma 1, open angle, A
open-angle glaucoma
glaucoma
Juvenile glaucoma
response to xenobiotic stimulus
congenital glaucoma
eye disorder
juvenile open angle glaucoma
exfoliation syndrome
food allergy
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
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
Curated MONDO disease pages that list MYOC among their top associated genes.
MYOC · Q99972

Mean pLDDT
78.9/ 100
Confident
504 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0