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- Table of Contents
6 Citations 15 Q&As
Facts about Runt-related transcription factor 2.
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 component (OCFRE) (By similarity).
Human | |
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Gene Name: | RUNX2 |
Uniprot: | Q13950 |
Entrez: | 860 |
Belongs to: |
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No superfamily |
Acute myeloid leukemia 3 protein; AML3CCD; CBFA1; CBFA1MGC120022; Core-binding factor subunit alpha-1; MGC120023; PEA2-alpha A; PEBP2A; PEBP2A1CCD1; PEBP2aA1; PEBP2-alpha A; runt domain, alpha subunit 1; runt-related transcription factor 2; RUNX2; SL3/AKV core-binding factor alpha A subunit; SL3-3 enhancer factor 1 alpha A subunit
Mass (kDA):
56.648 kDA
Human | |
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Location: | 6p21.1 |
Sequence: | 6; NC_000006.12 (45328317..45551082) |
Specifically expressed in osteoblasts.
Nucleus.
PMID: 9182765 by Mundlos S., et al. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.
PMID: 9434946 by Geoffroy V., et al. Genomic organization, expression of the human CBFA1 gene, and evidence for an alternative splicing event affecting protein function.
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