BRD2

bromodomain containing 2

Ensembl:
ENSG00000235307
UniProt:
P25440
OMIM:
601540
Synonyms:
BRD2-IT1, D6S113E, FSHRG1, KIAA9001, NAT

Cilia effects upon perturbation of BRD2

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-2.28) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
abnormal vertebral arch morphology, decreased cd8-positive, alpha-beta t cell number, increased cd4-positive, alpha-beta t cell number, preweaning lethality, complete penetrance, increased mean corpuscular hemoglobin
Mouse ciliopathy phenotype:
abnormal auditory brainstem response

Ciliopathy associations

  • Juvenile Myoclonic Epilepsy

Subcellular localization

cilia associated gene, nucleus

Functional category

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

Function

Mutations in the BRD2 gene cause Juvenile Myoclonic Epilepsy (PMID: 22787611).