Gene
PRPF3
pre-mRNA processing factor 3
- HGNC 17348↗(opens in a new tab)
- Ensembl gene ENSG00000117360↗(opens in a new tab)
- NCBI Gene 9129↗(opens in a new tab)
Summary
- Cytogenetic location
- 1q21.2
- Coordinates
- Chromosome 1: 150,321,533–150,353,233 (GRCh38)
- Exons
- 16 exons across 31.7 kb
- Protein
- 683 amino acids
- Also known as
- Prp3, hPrp3, SNRNP90
- Previous symbols
- RP18
- MANE Select transcript
- ENST00000324862.7NM_004698.4
- 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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Retinitis Pigmentosa
One of 77 genes linked to it
A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
How PRPF3 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- 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 2.4 kb of the gene's 31.7 kb; 2,052 of those bases code for the protein.
How a genome test reads PRPF3
6
positions in PRPF3 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 31.7 kb of PRPF3, introns included, not only the 2.4 kb of exons.
Genes linked to the same conditions
- ABCA4ATP binding cassette subfamily A member 4Shares 1 condition
- AGBL5AGBL carboxypeptidase 5Shares 1 condition
- AHRaryl hydrocarbon receptorShares 1 condition
- ARHGEF18Rho/Rac guanine nucleotide exchange factor 18Shares 1 condition
- ARL2BPARF like GTPase 2 binding proteinShares 1 condition
- ARL3ARF like GTPase 3Shares 1 condition
- ARL6ARF like GTPase 6Shares 1 condition
- BBS2Bardet-Biedl syndrome 2Shares 1 condition
- BEST1bestrophin 1Shares 1 condition
- CA4carbonic anhydrase 4Shares 1 condition
- CC2D2Acoiled-coil and C2 domain containing 2AShares 1 condition
- CDHR1cadherin related family member 1Shares 1 condition
Traits linked to PRPF3
The Human Phenotype Ontology lists these as features of the rare conditions PRPF3 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Abnormal electroretinogram
- Abnormal retinal pigmentation
- Blindness
- Extreme sensitivity of the eyes to light
- Involuntary, rapid, rhythmic eye movements
- Optic atrophy
- Progressive night blindness
- Retina degeneration
Show 21 more traits
- Spicular pigmentation of the retina
- Visual impairment
- Abnormal central response of multifocal electroretinogram
- Abnormal full-field electroretinogram
- Bulging cornea
- Cystoid macular edema
- Difficulties with night vision
- 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
- Blind spot
- Progressive visual field defects
- Rod-cone 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.
- 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.). PRPF3 gene: pre-mRNA processing factor 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/prpf3
Dante Labs. PRPF3 gene: pre-mRNA processing factor 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/prpf3
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