Gene: MSX2

Alternate names for this Gene: CRS2|FPP|HOX8|MSH|PFM|PFM1

Gene Summary: This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis of neural crest-derived cells required for proper craniofacial morphogenesis. The encoded protein may also have a role in promoting cell growth under certain conditions and may be an important target for the RAS signaling pathways. Mutations in this gene are associated with parietal foramina 1 and craniosynostosis type 2.

Gene is located in Chromosome: 5

Location in Chromosome : 5q35.2

Description of this Gene: msh homeobox 2

Type of Gene: protein-coding

rs104893895 in MSX2 gene and CRANIOSYNOSTOSIS, TYPE 2 PMID 23918290 2013 Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum.

PMID 8106171 1993 A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis.

PMID 23949913 2013 Boston type craniosynostosis: report of a second mutation in MSX2.

rs4242182 in MSX2 gene and Hair Color PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

rs104893896 in MSX2 gene and PARIETAL FORAMINA 1 PMID 10767351 2000 Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna.

PMID 10742103 2000 Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification.