SNRNP200

small nuclear ribonucleoprotein U5 subunit 200

Ensembl:
ENSG00000144028
UniProt:
O75643
OMIM:
601664
Synonyms:
ASCC3L1, BRR2, HELIC2, KIAA0788, RP33

Cilia effects upon perturbation of SNRNP200

Ciliogenesis screen results (4 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-16.24) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680
  • Failler/Valderrama et al. 2021 (siRNA) [siRNA]: Negative Regulator (Ciliogenesis Candidate) PMID:33206585
  • Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-2.78) PMID:41160700

Phenotypes

Mouse phenotype:
exophthalmos, embryonic lethality prior to organogenesis, impaired pupillary reflex, preweaning lethality, complete penetrance
Mouse ciliopathy phenotype:
enlarged heart
Human ciliopathy phenotype:
retinitis pigmentosa; autosomal dominant retinitis pigmentosa

Ciliopathy associations

  • Retinal Dystrophy/Degeneration

Subcellular localization

cilia, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Metabolism

Function

SNRNP200 has localized in cilia.