MYOC Gene Summary [Human]
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]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | MYOC |
| Official Name | myocilin [Source:HGNC Symbol;Acc:HGNC:7610] |
| Ensembl ID | ENSG00000034971 |
| Bio databases IDs | |
| Aliases | myocilin, trabecular meshwork inducible glucocorticoid response protein, juvenile-onset open-angle glaucoma 1 |
| Synonyms | GLC1A, GPOA, JOAG, JOAG1, myocilin, TIGR |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MYOC often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- myosin binding
- Apg6 coiled-coil region
- Autophagy protein 16 (ATG16)
- TPR/MLP1/MLP2-like protein
- frizzled binding
- receptor tyrosine kinase binding
- Olfactomedin-like domain
- Coiled-coiled domain of autophagy-related 16 (Atg16) family proteins
- coiled-coil domain
- protein binding
- olfactomedin domain
- fibronectin binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- open angle glaucoma type 1A
- colorectal cancer
- pediatric glaucoma
- aortic valve calcification
- digenic primary congenital glaucoma type 3A
- digenic open angle glaucoma 1A
- primary open-angle glaucoma
- open angle glaucoma type 1E
- open-angle glaucoma
- muscular hypertrophy
role in cell
- adhesion
- proliferation
- apoptosis
- expression in
- migration
- loss
- generation
- cell death
- differentiation
- assembly
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cell surface
- Extracellular Space
- perinuclear region
- Nucleus
- Plasma Membrane
- basal bodies
- vesicles
- Golgi Apparatus
- Endoplasmic Reticulum
- sarcoplasm
- mitochondrial intermembrane space
- mitochondrial outer membrane
- mitochondrial inner membrane
- nodes of Ranvier
- myelin sheath outer loop
- mesaxons
- Schmidt-Lanterman incisures
- sarcolemma
- cytoplasmic vesicles
- extracellular matrix
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MYOC gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of Rho protein signal transduction
- regulation of MAPK cascade
- neuron projection development
- signal transduction
- ERBB2-ERBB3 signaling pathway
- positive regulation of substrate adhesion-dependent cell spreading
- bone development
- clustering of voltage-gated sodium channels
- myelination in peripheral nervous system
- negative regulation of stress fiber assembly
- positive regulation of focal adhesion assembly
- negative regulation of cell-matrix adhesion
- positive regulation of stress fiber assembly
- positive regulation of JNK cascade
- osteoblast differentiation
- positive regulation of mitochondrial depolarization
- skeletal muscle hypertrophy
- positive regulation of protein kinase B signaling cascade
- non-canonical Wnt receptor signaling pathway
- positive regulation of cell migration
Cellular Component
Where in the cell the gene product is active
- extracellular space
- mitochondrial intermembrane space
- extracellular vesicular exosome
- cilium
- cytoplasmic vesicle
- node of Ranvier
- rough endoplasmic reticulum
- Golgi apparatus
- endoplasmic reticulum
- mitochondrial outer membrane
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- frizzled binding
- protein binding
- metal ion binding
- fibronectin binding
- receptor tyrosine kinase binding
- myosin light chain binding