Gene
CFAP20
cilia and flagella associated protein 20
- HGNC 29523↗(opens in a new tab)
- Ensembl gene ENSG00000070761↗(opens in a new tab)
- NCBI Gene 29105↗(opens in a new tab)
Summary
- Cytogenetic location
- 16q21
- Coordinates
- Chromosome 16: 58,113,592–58,129,381 (GRCh38)
- Exons
- 6 exons across 15.8 kb
- Protein
- 193 amino acids
- Also known as
- GTL3, fSAP23
- Previous symbols
- C16orf80
- MANE Select transcript
- ENST00000262498.8NM_013242.3
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
This page as data
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How CFAP20 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 1.3 kb of the gene's 15.8 kb; 582 of those bases code for the protein.
Traits linked to CFAP20
The Human Phenotype Ontology lists these as features of the rare conditions CFAP20 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Abnormal electroretinogram
- Difficulties with night vision
- Lazy eye
- Limited peripheral vision
- Mild myopia
- Mildly reduced visual acuity
- Moderate visual impairment
- Retinal pigment epithelial atrophy
Show 28 more traits
- Severe near sightedness
- Spicular pigmentation of the retina
- Ultra-low vision with retained light perception
- Undetectable dark-adapted electroretinogram
- Undetectable light-adapted electroretinogram
- Abnormal retinal pigmentation
- Blindness
- Extreme sensitivity of the eyes to light
- Involuntary, rapid, rhythmic eye movements
- Optic atrophy
- Progressive night blindness
- Retina degeneration
- Visual impairment
- Abnormal central response of multifocal electroretinogram
- Abnormal full-field electroretinogram
- Bulging cornea
- Cystoid macular edema
- Eye muscle paralysis
- Glaucoma
- Loss of peripheral vision
- Optic disc drusen
- Optic disc pallor
- Photoreceptor outer segment loss on macular OCT
- Posterior subcapsular cataract
- Retinal atrophy
- Abnormal color vision
- Decreased clarity of vision
- Photopsia
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.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Cite this page
Dante Labs. (n.d.). CFAP20 gene: cilia and flagella associated protein 20. Retrieved 17 October 2026, from https://dantelabs.com/genes/cfap20
Dante Labs. CFAP20 gene: cilia and flagella associated protein 20 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cfap20
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