MYOC Gene (Myocilin): Genetics, Function, and Associated Diseases
Comprehensive resource on the MYOC gene, including genomic information, expression, mutations, and clinical significance in primary open-angle glaucoma.
Gene Information Card
| Symbol | MYOC |
|---|---|
| Full Name | Myocilin |
| Gene Type | Protein coding |
| Chromosomal Location | 1q24.3 (GRCh38) |
| NCBI Gene ID | 4653 ncbi.nlm.nih.gov/gene/4653 |
| Ensembl ID | ENSG00000034971 |
| UniProt ID | Q99972 |
| OMIM ID | 601652 |
| HGNC ID | 7610 |
| Aliases | GLC1A, TIGR, JOAG1, Myocilin |
Description
The MYOC gene encodes myocilin, a protein expressed in various tissues, notably the trabecular meshwork of the eye. Mutations in MYOC are a leading cause of primary open-angle glaucoma (POAG) and juvenile open-angle glaucoma (JOAG). The protein is involved in cytoskeletal regulation and extracellular matrix interactions, and its misfolding leads to endoplasmic reticulum stress and trabecular meshwork dysfunction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Open-Angle Glaucoma (POAG) | Dominant-negative or gain-of-function mutations cause misfolded myocilin accumulation in trabecular meshwork cells, leading to increased intraocular pressure and optic nerve damage. | ClinVar, OMIM |
| Juvenile Open-Angle Glaucoma (JOAG) | Specific MYOC mutations (e.g., Pro370Leu) cause early-onset glaucoma with high penetrance, often requiring surgical intervention. | OMIM, PubMed |
| Pigment Dispersion Syndrome (PDS) | Some MYOC variants may contribute to pigment dispersion and trabecular meshwork obstruction, though evidence is limited. | ClinVar, case studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Eye (trabecular meshwork) | High (nTPM ~ 100) | High |
| Eye (ciliary body) | Moderate (nTPM ~ 50) | Medium |
| Heart | Low (nTPM ~ 10) | Low |
| Liver | Low (nTPM ~ 5) | Low |
| Kidney | Low (nTPM ~ 3) | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Trabecular meshwork cells | High | Primary site of expression; critical for glaucoma pathology |
| Retinal ganglion cells | Low | Expression may be induced under stress |
| HeLa | Low | Not a major expression model |
| HepG2 | Low | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Pro370Leu | Missense | ~1-2% in POAG populations | Severe early-onset glaucoma; protein misfolding and ER stress |
| Gln368Ter | Nonsense | ~1-3% in POAG populations | Truncated protein; loss of function or dominant-negative effect |
| Tyr437His | Missense | Rare | Associated with juvenile glaucoma; altered protein stability |
| Gly246Arg | Missense | Rare | Pathogenic; causes ER retention and cytotoxicity |
Mutation functional classification
Loss of Function (LOF)
Complete loss of myocilin function is not typically disease-causing; haploinsufficiency is not sufficient for glaucoma.
Gain of Function (GOF)
Most pathogenic mutations are gain-of-function: misfolded protein accumulates in the ER, triggering unfolded protein response and cell death.
Dominant Negative (DN)
Mutant myocilin can interact with wild-type protein, forming aggregates that disrupt normal function in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix organization | • cytoskeleton organization |
| • protein homodimerization activity | • cell adhesion |
| • response to endoplasmic reticulum stress | • signal transduction |
Pathways
• Unfolded Protein Response (UPR)
• Trabecular meshwork contractility pathway
• Extracellular matrix remodeling
Protein Summary
Myocilin is a secreted glycoprotein of ~504 amino acids, containing a leucine zipper domain and a olfactomedin-like domain. It is expressed in the trabecular meshwork and other ocular tissues. The protein is involved in maintaining extracellular matrix homeostasis and cytoskeletal dynamics. Mutations lead to protein misfolding, ER stress, and apoptosis of trabecular meshwork cells, elevating intraocular pressure and causing glaucoma.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYOC Knockout HEK293 Cell Line | EDJ-KQ5296 | Human | 4653 | Details Get a Quote |
| MYOCD Knockout HEK293 Cell Line | EDJ-KQ11249 | Human | 93649 | Details Get a Quote |
| MYOCOS Knockout HEK293 Cell Line | EDJ-KQ14348 | Human | 110806290 | Details Get a Quote |
| MYOCD Knockout A-549 Cell Line | EDJ-KQ39346 | Human | 93649 | Details Get a Quote |
| MYOCD Knockout HeLa Cell Line | EDJ-KQ39347 | Human | 93649 | Details Get a Quote |
| MYOC Knockout HeLa Cell Line | EDJ-KQ53953 | Human | 4653 | Details Get a Quote |
| MYOC Knockout A-549 Cell Line | EDJ-KQ62444 | Human | 4653 | Details Get a Quote |
| MYOC Knockout HCT 116 Cell Line | EDJ-KQ70909 | Human | 4653 | Details Get a Quote |
| MYOCD Knockout HCT 116 Cell Line | EDJ-KQ74786 | Human | 93649 | Details Get a Quote |
