Tbio RUNX2 Runt-related transcription factor 2

Protein Summary

Description

Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis (PubMed:28505335, PubMed:28738062, PubMed:28703881). 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. 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]

Uniprot Accession IDs

• Q13950
• O14614
• O14615
• O95181

Gene Name

• RUNX2

Ensembl ID

• ENST00000359524
• ENSP00000352514
• ENSG00000124813
• ENST00000371432
• ENSP00000360486
• ENST00000371436
• ENSP00000360491
• ENST00000371438
• ENSP00000360493
• ENST00000465038
• ENSP00000420707
• ENST00000647337
• ENSP00000495497

Symbol

• AML3
• CBFA1
• OSF2
• PEBP2A
• CCD
• AML3
• CCD1
• CLCD
• OSF2
• CBFA1
• OSF-2
• PEA2aA
• PEBP2aA
• CBF-alpha-1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
molecular function	1
biological process	0.98
co-expressed gene	0.96
biological term	0.94
protein domain	0.92

Protein Classes

PANTHER Classes

Protein / Transcription Factor / Runt-related Transcription Factor 2

Protein / Nucleic Acid Binding / Runt-related Transcription Factor 2

Protein / ... / Runt Transcription Factor / Runt-related Transcription Factor 2

DTO Classes

Protein / Transcription Factor / Immunoglobulin Fold Transcription Factor / Runt Transcription Factor / Runt-related Transcription Factor 2

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 4412.42   (req: < 5)

Gene RIFs: 530   (req: <= 3)

Antibodies: 810   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 4412.42   (req: >= 5)

Gene RIFs: 530   (req: > 3)

Antibodies: 810   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 36

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0