RUNX2

RUNX family transcription factor 2

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000124813
UniProt:
Q13950
OMIM:
600211
Synonyms:
AML3, CBFA1, CCD, CCD1, PEBP2A1, PEBP2AA1

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

Ciliopathy associations

  • Carpenter Syndrome

References: PMID:32662771

Subcellular localization

nucleus

References: PMID:16905538

Functional category

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

Function

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