Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

RUNX2

Reviewed January 2008

What is the official name of the RUNX2 gene?

The official name of this gene is “runt-related transcription factor 2.”

RUNX2 is the gene's official symbol. The RUNX2 gene is also known by other names, listed below.

What is the normal function of the RUNX2 gene?

The RUNX2 gene provides instructions for making a protein that is involved in bone and cartilage development and maintenance. This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Researchers believe that the RUNX2 protein acts as a "master switch," regulating a number of other genes involved in the development of cells that build bones (osteoblasts).

How are changes in the RUNX2 gene related to health conditions?

cleidocranial dysplasia - caused by mutations in the RUNX2 gene

More than 70 mutations in the RUNX2 gene have been identified in individuals with cleidocranial dysplasia. Some mutations change one protein building block (amino acid) in the RUNX2 protein. Other mutations introduce a premature stop signal that results in an abnormally short protein. Occasionally, the entire gene is missing.

These genetic changes reduce or eliminate the activity of the protein produced from one copy of the RUNX2 gene in each cell, decreasing the total amount of functional RUNX2 protein. This shortage of functional RUNX2 protein interferes with normal bone and cartilage development, resulting in the signs and symptoms of cleidocranial dysplasia. In rare cases, affected individuals may experience additional, unusual symptoms resulting from the loss of other genes near RUNX2.

Where is the RUNX2 gene located?

Cytogenetic Location: 6p21

Molecular Location on chromosome 6: base pairs 45,328,316 to 45,551,081

The RUNX2 gene is located on the short (p) arm of chromosome 6 at position 21.

The RUNX2 gene is located on the short (p) arm of chromosome 6 at position 21.

More precisely, the RUNX2 gene is located from base pair 45,328,316 to base pair 45,551,081 on chromosome 6.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about RUNX2?

You and your healthcare professional may find the following resources about RUNX2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the RUNX2 gene or gene products?

  • acute myeloid leukemia 3 protein
  • AML3
  • CBFA1
  • CBF-alpha 1
  • CCD
  • CCD1
  • core-binding factor, runt domain, alpha subunit 1
  • MGC120022
  • MGC120023
  • OSF2
  • osteoblast-specific transcription factor 2
  • PEA2aA
  • PEBP2A1
  • PEBP2A2
  • PEBP2aA
  • PEBP2aA1
  • polyomavirus enhancer binding protein 2 alpha A subunit
  • RUNX2_HUMAN
  • SL3-3 enhancer factor 1 alpha A subunit
  • SL3/AKV core-binding factor alpha A subunit

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding RUNX2?

acute ; acute myeloid leukemia ; amino acid ; cartilage ; cell ; DNA ; domain ; dysplasia ; enhancer ; gene ; leukemia ; myeloid ; osteoblast ; protein ; subunit ; transcription ; transcription factor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Cohen MM Jr. The new bone biology: pathologic, molecular, and clinical correlates. Am J Med Genet A. 2006 Dec 1;140(23):2646-706. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17103447?dopt=Abstract)
  • Hermanns P, Lee B. Transcriptional dysregulation in skeletal malformation syndromes. Am J Med Genet. 2001 Winter;106(4):258-71. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11891677?dopt=Abstract)
  • Lo Muzio L, Tetè S, Mastrangelo F, Cazzolla AP, Lacaita MG, Margaglione M, Campisi G. A novel mutation of gene CBFA1/RUNX2 in cleidocranial dysplasia. Ann Clin Lab Sci. 2007 Spring;37(2):115-20. (http://www.ncbi.nlm.nih.gov/pubmed/17522365?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/860)
  • Otto F, Kanegane H, Mundlos S. Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Hum Mutat. 2002 Mar;19(3):209-16. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11857736?dopt=Abstract)
  • Pal T, Napierala D, Becker TA, Loscalzo M, Baldridge D, Lee B, Sutphen R. The presence of germ line mosaicism in cleidocranial dysplasia. Clin Genet. 2007 Jun;71(6):589-91. (http://www.ncbi.nlm.nih.gov/pubmed/17539909?dopt=Abstract)
  • Rice DP. Craniofacial anomalies: from development to molecular pathogenesis. Curr Mol Med. 2005 Nov;5(7):699-722. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16305494?dopt=Abstract)
  • OMIM: RUNT-RELATED TRANSCRIPTION FACTOR 2 (http://omim.org/entry/600211)
  • Schroeder TM, Jensen ED, Westendorf JJ. Runx2: a master organizer of gene transcription in developing and maturing osteoblasts. Birth Defects Res C Embryo Today. 2005 Sep;75(3):213-25. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16187316?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2008
Published: September 15, 2014