BRCA2

BRCA2 DNA repair associated

Ensembl:
ENSG00000139618
UniProt:
P51587
OMIM:
600185
Synonyms:
BRCC2, FACD, FAD, FAD1, FANCD

Cilia effects upon perturbation of BRCA2

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-7.64) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Ciliopathy associations

  • Medulloblastoma

Subcellular localization

centrosome, cilia associated gene, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Reproduction & sperm
  • Protein processing & maturation

Function

The centriolar BRCA2 interactor, centrobin, has a role in controlling primary cilium formation through a C-terminal tubulin- and CP110-interacting region ( 29440264).

Model organism evidence

Danio rerio (1 reference)

Centrobin controls primary ciliogenesis in vertebrates.

PMIDs: 29440264