DLG4

discs large MAGUK scaffold protein 4

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000132535
UniProt:
P78352
OMIM:
602887
Synonyms:
PSD-95, PSD95, SAP-90, SAP90

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.01) 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, decreased body weight, increased lean body mass, decreased grip strength, abnormal behavior, increased bone mineral content, tremors, decreased total body fat amount, decreased exploration in new environment, increased circulating sodium level
Human ciliopathy phenotype:
Intellectual disability

Subcellular localization

basal body, cilia, ciliary tip

References: PMID:41005307, PMID:39677731

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Protein processing & maturation
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

DLG4 has localized in basal body, cilia. Antibody staining in rat brain cells confirms ciliary localization of PSD95 (DLG4) (Kostyanovskaya et al., 2025, bioRxiv, PMID 39677731).