| Symbol
| RUNX2
| contributors: mct - updated : 16-08-2020
|
| HGNC name
| runt-related transcription factor 2
|
| HGNC id
| 10472
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
|
|
| --over
|
| |
in expression of osteogenesis-related transcription factors RUNX2 and Osterix by TGFB3 induction of adipose-derived stromal cells during chondrogenesis | | tumoral
|
|
| --over
|
|
in chondrosarcoma cells  | | constitutional
|
|
| --over
|
| |
may induce transdifferentiation from odontoblasts to osteoblasts | | tumoral
|
|
| --over
|
| |
in breast and prostate cancers predisposed to skeletal metastasis | |
| Susceptibility
|
to osteoporotic fracture (with decreased BMD) |
| Variant & Polymorphism
| A allele was associated with increased BMD and was protective against a common form of osteoporotic fracture |
| 
|
| Candidate gene
| abnormally expressed in highly metastatic prostate cancer cells, may be a key regulator of events associated with prostate cancer metastatic bone disease |
Marker
Therapy target
|
|
| System | Type | Disorder | Pubmed |
|---|
| cancer | | | |
| for therapeutic approaches that disable cancer cell activity | | cancer | metastases | | |
| interaction between RUNX2 and TSSC1 might represent a viable target for therapeutic intervention to inhibit bone metastasis |
| | |
|
| Mice overexpressing Runx2 in osteoblasts have an abnormally low number of osteocytes in cortical bone | |
Runx2-null mice die at birth lacking a mineralized skeleton, and are in a hypothyroid state |
|
Runx2 haploinsufficient mice mimic features of human cleidocranial dysplasia in that they present with hypoplastic clavicles and delayed cranial suture development with persistent fontanels in the calvaria |