Gene
MYOC
myocilin
- HGNC 7610(opens in a new tab)
- Ensembl gene ENSG00000034971(opens in a new tab)
- NCBI Gene 4653(opens in a new tab)
Summary
- Cytogenetic location
- 1q24.3
- Coordinates
- Chromosome 1: 171,635,417–171,652,688 (GRCh38)
- Exons
- 3 exons across 17.3 kb
- Protein
- 504 amino acids
- Also known as
- TIGR, JOAG1
- Previous symbols
- GLC1A
- MANE Select transcript
- ENST00000037502.11NM_000261.2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Glaucoma
Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
IOP-lowering drops (prostaglandin analogs, beta-blockers); selective laser trabeculoplasty; MIGS surgery; trabeculotomy/goniotomy for congenital glaucoma; cascade family genetic testing; annual IOP monitoring for carriers
How MYOC is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
- Variants with a page
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.1 kb of the gene's 17.3 kb; 1,515 of those bases code for the protein.
How a genome test reads MYOC
43
positions in MYOC where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 17.3 kb of MYOC, introns included, not only the 2.1 kb of exons.
Variants with a page (49)
The MYOC variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A363T | c.1087G>A | Exon 3 | 171,636,353 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.1440C>G | Exon 3 | 171,636,000 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C433R | c.1297T>C | Exon 3 | 171,636,143 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C433Y | c.1298G>A | Exon 3 | 171,636,142 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D380A | c.1139A>C | Exon 3 | 171,636,301 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D380G | c.1139A>G | Exon 3 | 171,636,301 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D380H | c.1138G>C | Exon 3 | 171,636,302 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D380Y | c.1138G>T | Exon 3 | 171,636,302 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D384G | c.1151A>G | Exon 3 | 171,636,289 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D384H | c.1150G>C | Exon 3 | 171,636,290 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
Traits linked to MYOC
The Human Phenotype Ontology lists these as features of the rare conditions MYOC can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Glaucoma
- Abnormal anterior chamber morphology
- Abnormal Descemet membrane morphology
- Abnormality of the iris
- Corneal opacity
- Damaged optic nerve
- Deep anterior chamber
- Enlarged cornea
Show 21 more traits
- Enlarged eyeball
- Extreme sensitivity of the eyes to light
- Glaucomatous visual field defect
- High eye pressure
- Increased tears
- Iris degeneration
- Loss of peripheral vision
- Open angle glaucoma
- Optic nerve issue
- Reduced anterior scleral thickness
- Visual impairment
- Anisometropia
- Close sighted
- Decreased clarity of vision
- Increased cup-to-disc ratio
- Iridodonesis
- Lazy eye
- Severe near sightedness
- Temporal optic disc pallor
- Visual loss
- Blind spot located at fixation point
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). MYOC gene: myocilin. Retrieved 17 October 2026, from https://dantelabs.com/genes/myoc
Dante Labs. MYOC gene: myocilin [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/myoc
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