PLCB4

phospholipase C beta 4

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000101333
UniProt:
Q15147
OMIM:
600810

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.06) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
decreased locomotor activity, increased bone mineral content, preweaning lethality, incomplete penetrance, enlarged gallbladder, abnormal locomotor behavior, abnormal gallbladder morphology, decreased exploration in new environment, increased lean body mass, abnormal gait, decreased total body fat amount, increased grip strength, increased vertical activity

Subcellular localization

cytosol, nucleus, cilia, basal body

References: PMID:41005307, PMID:33470056

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Only one significant GGI was detected in high-Myelomeningocele(MCC) cases, and it was between cilia and Wnt signaling pathways genes variants (PARD3 and PLCB4) not involved in any other total sample-MMC and low-MMC gene-gene interaction ( 33470056).