| Gene Symbol |
RUNX2
|
| Gene Synonyms |
CCD AML3 CCD1 CLCD OSF2 CBFA1 OSF-2 PEA2aA PEBP2aA CBF-alpha-1 |
| Gene Full Name |
RUNX family transcription factor 2 |
| Gene Summary |
This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Two regions of potential trinucleotide repeat expansions are present in the N-terminal region of the encoded protein, and these and other mutations in this gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [provided by RefSeq, Jul 2016] |
| Alternative Names |
Acute myeloid leukemia 3 protein Alpha subunit 1 AML3 CBF alpha 1 CBF-alpha-1 CBFA1 CCD CCD1 Cleidocranial dysplasia 1 Core binding factor Core binding factor runt domain alpha subunit 1 Core binding factor subunit alpha 1 Core-binding factor subunit alpha-1 MGC120022 MGC120023 Oncogene AML 3 Oncogene AML-3 OSF 2 OSF-2 OSF2 Osteoblast specific transcription factor 2 Osteoblast-specific transcription factor 2 OTTHUMP00000016533 PEA2 alpha A PEA2-alpha A PEA2aA PEBP2 alpha A PEBP2-alpha A PEBP2A1 PEBP2A2 PEBP2aA PEBP2aA1 Polyomavirus enhancer binding protein 2 alpha A subunit Polyomavirus enhancer-binding protein 2 alpha A subunit Runt domain Runt related transcription factor 2 Runt-related transcription factor 2 RUNX2 RUNX2_HUMAN SL3 3 enhancer factor 1 alpha A subunit SL3-3 enhancer factor 1 alpha A subunit SL3/AKV core binding factor alpha A subunit SL3/AKV core-binding factor alpha A subunit |
| Molecular Weight(MW) |
57 kDa |
| Cellular Localization |
Cytoplasm, Nucleus. |