SNRNP200

small nuclear ribonucleoprotein U5 subunit 200

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000144028
UniProt:
O75643
OMIM:
601664
Synonyms:
ASCC3L1, BRR2, HELIC2, KIAA0788, RP33, U5-200KD

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
Human ciliopathy phenotype:
retinitis pigmentosa; autosomal dominant retinitis pigmentosa

Ciliopathy associations

  • Retinal Dystrophy/Degeneration

References: PMID:19878916, PMID:30967900, PMID:23029027, PMID:19710410, PMID:31919495

Subcellular localization

cilia, nucleus

References: PMID:41005307

Functional category

  • Ciliary assembly/disassembly
  • Metabolism

Function

SNRNP200 has localized in cilia.