PLCB4

phospholipase C beta 4

Ensembl:
ENSG00000101333
UniProt:
Q15147
OMIM:
600810

Cilia effects upon perturbation of PLCB4

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
Mouse ciliopathy phenotype:
hydrometra, abnormal auditory brainstem response, abnormal uterus morphology

Subcellular localization

cilia associated gene, cytosol, nucleus

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 sig ling pathways genes variants (PARD3 and PLCB4) not involved in any other total sample-MMC and low-MMC gene-gene interaction ( 33470056).