Gene
OVOL2
ovo like zinc finger 2
- HGNC 15804↗(opens in a new tab)
- Ensembl gene ENSG00000125850↗(opens in a new tab)
- NCBI Gene 58495↗(opens in a new tab)
Summary
- Cytogenetic location
- 20p11.23
- Coordinates
- Chromosome 20: 18,024,163–18,057,916 (GRCh38)
- Exons
- 4 exons across 33.8 kb
- Protein
- 275 amino acids
- Also known as
- bA504H3.3, HOVO2, CHED
- Previous symbols
- ZNF339, CHED1
- MANE Select transcript
- ENST00000278780.7NM_021220.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
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Hereditary Corneal Dystrophies
- Corneal Dystrophy
A group of inherited conditions affecting one or more layers of the cornea, including Fuchs endothelial dystrophy (often linked to a TCF4 repeat expansion), TGFBI-related granular and lattice dystrophies, and rarer types caused by genes such as SLC4A11, COL8A2, ZEB1 and CHST6.
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Carriers of TGFBI variants are generally advised to avoid laser refractive surgery (LASIK or PRK), which can make deposits worse; corneal transplant can restore vision in advanced disease.
How OVOL2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
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 1.6 kb of the gene's 33.8 kb; 828 of those bases code for the protein.
Genes linked to the same conditions
- CHST6carbohydrate sulfotransferase 6Shares 1 condition
- COL17A1collagen type XVII alpha 1 chainShares 1 condition
- COL8A2collagen type VIII alpha 2 chainShares 1 condition
- DCNdecorinShares 1 condition
- GRHL2grainyhead like transcription factor 2Shares 1 condition
- GSNgelsolinShares 1 condition
- KRT12keratin 12Shares 1 condition
- KRT3keratin 3Shares 1 condition
- MCOLN1mucolipin TRP cation channel 1Shares 1 condition
- NLRP1NLR family pyrin domain containing 1Shares 1 condition
- PIKFYVEphosphoinositide kinase, FYVE-type zinc finger containingShares 1 condition
- PRDX3peroxiredoxin 3Shares 1 condition
Traits linked to OVOL2
The Human Phenotype Ontology lists these as features of the rare conditions OVOL2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Abnormal Descemet membrane morphology
- Reduced number of corneal endothelial cells
- Anterior synechiae of the anterior chamber
- Astigmatism
- Decreased clarity of vision
- Displaced pupil
- Increased corneal curvature
- Iris degeneration
Show 17 more traits
- Lazy eye
- Thinning of Descemet membrane
- Uveal ectropion
- Very low visual acuity
- Abnormality of tear production
- Blurred vision
- Chorioretinal atrophy
- Corneal opacity
- Extreme sensitivity of the eyes to light
- Eye pain
- Glaucoma
- High eye pressure
- Inward turning cross eyed
- Abnormal corneal endothelium morphology
- Band keratopathy
- Increased tears
- Polymorphous posterior corneal dystrophy
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.
- 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.). OVOL2 gene: ovo like zinc finger 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/ovol2
Dante Labs. OVOL2 gene: ovo like zinc finger 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ovol2
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