| Symbol
| MSX2
| contributors: mct/npt/pgu - updated : 18-09-2015
|
| HGNC name
| msh homeobox 2
|
| HGNC id
| 7392
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| tumoral
|
|
| --other
|
| |
various tumors of mesenchymal origin | | tumoral
|
|
| --over
|
| |
significantly correlated with higher tumor grade, vascular invasion, and TWIST1 expression | | tumoral
|
|
| --other
|
|
aberrantly methylated promoter associated CpG islands in acute lymphocytic leukemia  | | constitutional
|
|
| --over
|
| |
regulated retinal cells by affecting cell cycle and proliferation and caused delay in retinal ganglion cell commitment and differentiation | | constitutional
|
|
|
| loss of function
| |
inactivation of its repressive activity may be one cause of Wormian bones, ectopic bones that are a feature of a variety of pathological conditions in which calvarial bone development is compromised | | tumoral
|
|
| --over
|
| |
markedly increased in primary human and murine OEAs with dysregulated CTNNB1compared with ovarian endometrioid adenocarcinoma with intact CTNNB1regulation | |
| Susceptibility
|
to ankylosing spondylitis |
| Variant & Polymorphism
SNP
| increasing the risk of ankylosing spondylitis |
| 
|
| Candidate gene
| in cranial vault morphogenesis, sensitive to gene dosage; in cleft lip/palate |
| Marker
| it is possible to differentiate pancreatic ductal adenocarcinoma from chronic pancreatitis by evaluating MSX2 expression level |
Therapy target
|
| |
|
| defects in bone growth and ectodermal organ formation in Msx2 deficient mice, premature cranial suture closure | |
expression of the Msx2 homeobox gene, an essential regulator of calvarial bone development is absent in the skull mesenchymal progenitors of Foxc1 mutant mice |
|
Msx1;Msx2 double mutants are characterized by the loss of derivatives of the anterior limb mesoderm which is not observed in either of the simple mutants |