NPM2
nucleophosmin/nucleoplasmin 2
- Ensembl:
- ENSG00000158806
- UniProt:
- Q86SE8
- OMIM:
- 608073
Cilia effects upon perturbation of NPM2
Ciliogenesis screen results (4 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
- Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-6.14) PMID:41160700
Subcellular localization
cilia associated gene, nucleus
Functional category
- Ciliary assembly/disassembly
- Reproduction & sperm
Function
Both ARL3T31A and ARL3T31A/C118F groups exhibited a reduction in cilium formation, therefore, the decrease in cilium formation in these groups may be associated with the downregulation of LIMS2 and NPM2 ( 38457249).
Model organism evidence
Mus musculus (2 references)
Although nearly all NPHP genes encode ciliary proteins, classifying NPH as a renal ciliopathy, there is evidence for a pathogenic role of a compromised DNA damage response (DDR).
(#)Contributed equally BACKGROUND: Nephronophthisis (NPH) is classified under the category of renal ciliopathies and is the most common genetic disease leading to renal failure in children.