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PRPF3

Chr 1q21.2

pre-mRNA processing factor 3

Aliases:
Prp3, hPrp3, SNRNP90
MANE:
ENST00000324862.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Retinal disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Glaucoma (developmental)

  • Structural eye disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • retinitis pigmentosa

    0.76
  • Retinal dystrophy

    0.50
  • autosomal dominant retinitis pigmentosa

    0.37
  • eye disorder

    0.37
  • neurodegenerative disease

    0.35
  • Headache

    0.26
  • smoking initiation

    0.25
  • Abnormality of the skeletal system

    0.22
  • osteoarthritis

    0.20
  • Hip pain

    0.20

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

U4/U6 small nuclear ribonucleoprotein Prp3

Plays a role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.