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GenoLensGenoLens

MYOC

Chr 1q24.3

myocilin

Aliases:
TIGR, JOAG1
MANE:
ENST00000037502.11

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Glaucoma (developmental)

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Structural eye disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Retinal disorders

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • glaucoma 1, open angle, A

    0.83
  • open-angle glaucoma

    0.81
  • glaucoma

    0.80
  • Juvenile glaucoma

    0.64
  • response to xenobiotic stimulus

    0.45
  • congenital glaucoma

    0.39
  • eye disorder

    0.39
  • juvenile open angle glaucoma

    0.38
  • exfoliation syndrome

    0.38
  • food allergy

    0.29

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

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.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.