MSX2 Chromosome 5
Msh homeobox 2
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
NKL subclass homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
5q35.2
Ensembl
ENSG00000120149
Associated Conditions (5)
Cranium bifidum occultum
Inborn genetic diseases
Parietal foramina 1
Craniosynostosis 2
Parietal foramina with cleidocranial dysplasia
Key Variants
RS2480592535
Conflicting classifications of pathogenicity
Cranium bifidum occultum, Inborn genetic diseases, Cranium bifidum occultum
Health Risk
RS375964205
Conflicting classifications of pathogenicity
Parietal foramina 1, Craniosynostosis 2, Parietal foramina 1
Health Risk
RS555293970
Conflicting classifications of pathogenicity
Cranium bifidum occultum, Inborn genetic diseases, Cranium bifidum occultum
Health Risk
RS769329948
Conflicting classifications of pathogenicity
Craniosynostosis 2, Parietal foramina 1, Cranium bifidum occultum
Health Risk
RS1203256966
Likely pathogenic
Health Risk
RS1349485235
Likely pathogenic
Health Risk
RS104893895
Pathogenic
Craniosynostosis 2, Cranium bifidum occultum, Craniosynostosis 2
Health Risk
RS104893896
Pathogenic
Parietal foramina 1, Parietal foramina 1
Health Risk
RS121912971
Pathogenic
Parietal foramina 1, Parietal foramina 1
Health Risk
RS121912972
Pathogenic
Parietal foramina 1, Parietal foramina 1
Health Risk
RS1561643029
Pathogenic
Parietal foramina with cleidocranial dysplasia, Parietal foramina with cleidocranial dysplasia
Health Risk
RS1561643060
Pathogenic
Parietal foramina 1, Parietal foramina 1
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2480592535 | Health Risk | Conflicting classifications of pathogenicity | Cranium bifidum occultum, Inborn genetic diseases, Cranium bifidum occultum |
| RS375964205 | Health Risk | Conflicting classifications of pathogenicity | Parietal foramina 1, Craniosynostosis 2, Parietal foramina 1 |
| RS555293970 | Health Risk | Conflicting classifications of pathogenicity | Cranium bifidum occultum, Inborn genetic diseases, Cranium bifidum occultum |
| RS769329948 | Health Risk | Conflicting classifications of pathogenicity | Craniosynostosis 2, Parietal foramina 1, Cranium bifidum occultum |
| RS1203256966 | Health Risk | Likely pathogenic | — |
| RS1349485235 | Health Risk | Likely pathogenic | — |
| RS104893895 | Health Risk | Pathogenic | Craniosynostosis 2, Cranium bifidum occultum, Craniosynostosis 2 |
| RS104893896 | Health Risk | Pathogenic | Parietal foramina 1, Parietal foramina 1 |
| RS121912971 | Health Risk | Pathogenic | Parietal foramina 1, Parietal foramina 1 |
| RS121912972 | Health Risk | Pathogenic | Parietal foramina 1, Parietal foramina 1 |
| RS1561643029 | Health Risk | Pathogenic | Parietal foramina with cleidocranial dysplasia, Parietal foramina with cleidocranial dysplasia |
| RS1561643060 | Health Risk | Pathogenic | Parietal foramina 1, Parietal foramina 1 |
| RS2113498696 | Health Risk | Pathogenic | Cranium bifidum occultum, Cranium bifidum occultum |
| RS2113498725 | Health Risk | Pathogenic | Parietal foramina 1, Parietal foramina 1 |
| RS2480603008 | Health Risk | Pathogenic | Craniosynostosis 2, Craniosynostosis 2 |