BRD4

bromodomain containing 4

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

Cilia effects upon perturbation of BRD4

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
Mouse ciliopathy phenotype:
short tibia, abnormal reti blood vessel morphology, abnormal cranium morphology

Ciliopathy associations

  • Cornelia de Lange Syndrome

Subcellular localization

cilia associated gene, nucleus

Functional category

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

Function

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