AlphaFold predicted structure
MSX2 · P35548
Mean pLDDT
67.4/ 100
Low
267 residues
Confidence breakdown
- Very high(≥ 90)23%
- Confident(70–90)9%
- Low(50–70)49%
- Very low(< 50)19%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
MSX2
Chr 5q35.2msh homeobox 2
- Aliases:
- CRS2, FPP, HOX8, MSH, PFM
- MANE:
- ENST00000239243.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownRare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSkeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownMonogenic hearing loss
Disease associations (Open Targets)
craniosynostosis 2
0.75parietal foramina 1
0.71parietal foramina
0.69parietal foramina with cleidocranial dysplasia
0.69Craniosynostosis, Boston type
0.66hair color
0.52craniosynostosis
0.47atrial fibrillation
0.42urinary bladder cancer
0.41preeclampsia
0.32
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Homeobox protein MSX-2
Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and antagonizes the stimulatory effect of DLX5 on ALPL expression during osteoblast differentiation. Probable morphogenetic role. May play a role in limb-pattern formation. In osteoblasts, suppresses transcription driven by the osteocalcin FGF response element (OCFRE). Binds to the homeodomain-response element of the ALPL promoter