PITPNM3

PITPNM family member 3

Ensembl:
ENSG00000091622
UniProt:
Q9BZ71
OMIM:
608921
Synonyms:
ACKR6, CORD5, NIR1, RDGBA3

Cilia effects upon perturbation of PITPNM3

Ciliogenesis screen results (5 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.24) 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=-3.54) PMID:41160700

Phenotypes

Mouse phenotype:
abnormal bone structure, increased bone mineral content

Ciliopathy associations

  • Cone-Rod Dystrophy

Subcellular localization

cilia associated gene

Functional category

  • Ciliary assembly/disassembly

Function

Mutations in the PITPNM3 gene cause Cone-Rod Dystrophy (PMID: 8586428, PMID:17377520).