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RUNX2 runt-related transcription factor 2

Also known as: CCD; AML3; CCD1; CLCD; OSF2; CBFA1; OSF-2; PEA2aA; PEBP2aA; CBF-alpha-1

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, Jul 2008]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-02-24)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-02-24)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
6p21
Sequence:
Chromosome: 6; NC_000006.12 (45327800..45664032)
Total number of exons:
16

Links

  • BioSystems
    BioSystems
  • ClinVar
    Related medical variations
  • dbVar
    Link from Gene to dbVar
  • MedGen
    Related information in MedGen
  • OMIM
    Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
  • PubMed (OMIM)
    Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
  • RefSeq RNAs
    Link to Nucleotide RefSeq RNAs
  • RefSeqGene
    Link to Nucleotide RefSeqGenes
  • RUNX2 database
  • SNP: GeneView
    SNPs linked from GeneView

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