| Gene Symbol |
RUNX2
|
| Entrez Gene |
860
|
| Alt Symbol |
AML3, CBF-alpha-1, CBFA1, CCD, CCD1, CLCD, OSF-2, OSF2, PEA2aA, PEBP2aA
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
runt-related transcription factor 2
|
| Other Description |
PEA2-alpha A|PEBP2-alpha A|SL3-3 enhancer factor 1 alpha A subunit|SL3/AKV core-binding factor alpha A subunit|acute myeloid leukemia 3 protein|core-binding factor, runt domain, alpha subunit 1|oncogene AML-3|osteoblast-specific transcription factor 2|polyomavirus enhancer-binding protein 2 alpha A subunit
|
| Swissprots |
O14615 Q13950 O95181 O14614
|
| Accessions |
AAB65158 AAB65159 AAC77441 AAM21761 AEC33225 AGW99946 BAA88712 CCQ43044 EAX04277 EAX04278 EAX04279 EAX04280 EAX04281 EAX04282 Q13950 AF053952 AAC78624 AF087960 AL353944 AW469546 BC108919 AAI08920 BC108920 AAI08921 BC160022 AAI60022 BX108677 CD001961 CN431726 DR005078 L40992 AAA89072 XM_006715232 XP_006715295 XM_011514960 XP_011513262 XM_011514961 XP_011513263 XM_011514962 XP_011513264 XM_011514963 XP_011513265 XM_011514964 XP_011513266 XM_011514965 XP_011513267 XM_011514966 XP_011513268 XM_011514967 XP_011513269 XM_011514968 XP_011513270 XR_926323 NM_001015051 NP_001015051 NM_001024630 NP_001019801 NM_001278478 NP_001265407 NR_103532 NR_103533 NM_004348
|
| Function |
Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis. Essential for the maturation of osteoblasts and both intramembranous and endochondral ossification. CBF binds to the core site, 5'- PYGPYGGT-3', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, osteocalcin, osteopontin, bone sialoprotein, alpha 1(I) collagen, LCK, IL-3 and GM-CSF promoters. In osteoblasts, supports transcription activation: synergizes with SPEN/MINT to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE) (By similarity). Inhibits KAT6B-dependent transcriptional activation. {ECO:0000250, ECO:0000269|PubMed:11965546}.
|
| Subcellular Location |
Nucleus.
|
| Tissue Specificity |
Specifically expressed in osteoblasts.
|
| Top Pathways |
Transcriptional misregulation in cancer
|