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).