RUNX2

RUNX family transcription factor 2

Ensembl:
ENSG00000124813
UniProt:
Q13950
OMIM:
600211
Synonyms:
AML3, CBFA1, CCD, CCD1, PEBP2A1

Cilia effects upon perturbation of RUNX2

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.06) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-0.71) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
decreased bone mineral content, abnormal pelvic girdle bone morphology, abnormal humerus morphology, abnormal zygomatic bone morphology, abnormal vertebrae morphology, abnormal clavicle morphology, abnormal bone structure, abnormal vertebral arch morphology
Mouse ciliopathy phenotype:
abnormal cranium morphology

Ciliopathy associations

  • Carpenter Syndrome

Subcellular localization

cilia associated gene, nucleus

Functional category

  • Ciliary assembly/disassembly
  • T cell biology
  • Protein processing & maturation
  • Signaling (Hedgehog, GPCRs, ion channels)
  • ECM & connective tissue
  • Transcription regulation

Function

Runx2-II, an essential transcriptio l factor in controlling osteoblast-mediated bone formation, is downstream of Pkd1 ( 16905538).

Model organism evidence

Mus musculus (1 reference)

Foxn3 is part of a transcriptional network that regulates primary cilia in the developing retina.

PMIDs: 41766387