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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed March 2008

What is the official name of the MSX2 gene?

The official name of this gene is “msh homeobox 2.”

MSX2 is the gene's official symbol. The MSX2 gene is also known by other names, listed below.

What is the normal function of the MSX2 gene?

The MSX2 gene provides instructions for producing a protein that is necessary for proper development throughout the body. The MSX2 protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of certain genes. The presence of the MSX2 protein seems to be particularly critical for the complete development of the skull.

Does the MSX2 gene share characteristics with other genes?

The MSX2 gene belongs to a family of genes called homeobox (homeoboxes).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? ( in the Handbook.

How are changes in the MSX2 gene related to health conditions?

enlarged parietal foramina - caused by mutations in the MSX2 gene

More than 10 mutations in the MSX2 gene have been identified in people with enlarged parietal foramina type 1. These mutations include a change of one protein building block (amino acid) in the MSX2 protein and deletions of one or more DNA building blocks (nucleotides) from the gene. These genetic changes result in the production of an unstable MSX2 protein that cannot bind to DNA. A nonfunctional MSX2 protein impairs the regulation of cell growth and division (proliferation); cell maturation and specialization (differentiation); and the balance of cell survival and self-destruction in certain areas of the skull. These impairments of cell function lead to problems with bone formation (ossification), which cause enlarged parietal foramina.

other disorders - caused by mutations in the MSX2 gene

A mutation in the MSX2 gene causes a condition called craniosynostosis type 2 (also known as Boston type). Craniosynostosis involves a premature closure of the bones of the skull, leading to a misshapen head. People with craniosynostosis type 2 can have skull malformations including a protruding forehead (frontal bossing), a short wide head that is pointed at the top (turribrachycephaly), or a cloverleaf-shaped skull (Kleeblattschaedel deformity). Most affected people have vision problems, and a few have experienced seizures. Intelligence is typically normal.

Only one mutation has been found to cause craniosynostosis type 2. This mutation changes one protein building block (amino acid) in the MSX2 protein. Specifically, the amino acid proline is replaced with the amino acid histidine at position 148 (written Pro148His or P148H). Craniosynostosis type 2 has been found to affect multiple members of a single multi-generational family.

Where is the MSX2 gene located?

Cytogenetic Location: 5q35.2

Molecular Location on chromosome 5: base pairs 174,724,572 to 174,730,899

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

The MSX2 gene is located on the long (q) arm of chromosome 5 at position 35.2.

The MSX2 gene is located on the long (q) arm of chromosome 5 at position 35.2.

More precisely, the MSX2 gene is located from base pair 174,724,572 to base pair 174,730,899 on chromosome 5.

See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about MSX2?

You and your healthcare professional may find the following resources about MSX2 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 MSX2 gene or gene products?

  • CRS2
  • FPP
  • HOX8
  • MSH
  • msh homeobox homolog 2
  • PFM
  • PFM1

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding MSX2?

amino acid ; bone formation ; cell ; craniosynostosis ; differentiation ; DNA ; gene ; histidine ; homeobox ; mutation ; ossification ; proliferation ; proline ; protein ; transcription ; transcription factor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


  • Antonopoulou I, Mavrogiannis LA, Wilkie AO, Morriss-Kay GM. Alx4 and Msx2 play phenotypically similar and additive roles in skull vault differentiation. J Anat. 2004 Jun;204(6):487-99. (
  • NCBI Gene (
  • Wilkie AO, Tang Z, Elanko N, Walsh S, Twigg SR, Hurst JA, Wall SA, Chrzanowska KH, Maxson RE Jr. Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. Nat Genet. 2000 Apr;24(4):387-90. (
  • Wuyts W, Reardon W, Preis S, Homfray T, Rasore-Quartino A, Christians H, Willems PJ, Van Hul W. Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna. Hum Mol Genet. 2000 May 1;9(8):1251-5. (


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? ( in the Handbook.

Reviewed: March 2008
Published: February 8, 2016