BRD4

bromodomain containing 4

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000141867
UniProt:
O60885
OMIM:
608749
Synonyms:
CAP, FSHRG4, HUNK1, HUNKI, MCAP

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.80) 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:
abnormal reti outer nuclear layer morphology, abnormal reti inner nuclear layer morphology, preweaning lethality, complete penetrance, increased grip strength, embryonic lethality prior to organogenesis, decreased prepulse inhibition, decreased total reti thickness, abnormal eye posterior chamber depth

Ciliopathy associations

  • Cornelia de Lange Syndrome

References: PMID:31168063, PMID:37377026, PMID:34035299

Subcellular localization

nucleus

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Viral interactions
  • Cell migration & adhesion

Function

Mutations in the BRD4 gene cause Cornelia de Lange Syndrome (PMID: 31168063).