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Description for Protein RUNX2

runt-related transcription factor 2
36 total interacting proteins; 9 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
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. 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] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K09278
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Core binding factor RUNT domain alpha subunit 1; CBFA1; AML3; CCD; CCD1; PEBP2A1; PEBP2A2; PEBP2aA; PEBP2aA1; PEBP2A; Core binding factor alpha 1subunit; CBF alpha 1; Acute myeloid leukemia 3 protein; PEBP2 alpha A; PEA2 alpha A; Osteoblast specific transcription factor 2; OSF 2; SL3-3 enhancer factor 1 alpha A subunit; SL3/AKV core-binding factor alpha A subunit; Polyomavirus enhancer binding protein 2 alpha A subunit; Runt-related transcription factor 2 isoform b; Runt-related transcription factor 2 isoform a; Runt-related transcription factor 2 isoform c
    Approved Symbol:
    RUNX2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 29
    Human (de-) phosphorylation sites: 29; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Cleidocranial dysplasia(Pd);
  • Cleidocranial dysplasia, forme fruste(Pd);
  • Cleidocranial dysplasia, forme fruste, with brachydactyly(Pd);
  • Cleidocranial dysplasia, severe, with osteoporosis and scoliosis(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02566 Entrez Gene ID: 860 OMIM ID: 600211 Swissprot Accession: Q13950;