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homeobox protein-8; HOX-8; craniosynotosis-associated homeobox protein MSX-2; homeobox protein MSX-2; MSX2 (HOX8)
Function:
- probable morphogenetic role
- may play a role in limb-pattern formation
- in osteoblasts, suppresses transcription driven by the osteocalcin FGF response element (OCFRE)
- interacts with MINT (putative)
- interacts with G22P1 (Ku70) & XRCC5 (Ku80)
Structure:
- belongs to the Msh homeobox family
- contains 1 homeobox DNA-binding domain
Compartment: nucleus
Pathology:
- defects in MSX2 are the cause of
a) parietal foramina 1
b) parietal foramina with cleidocranial dysplasia
c) craniosynostosis type 2
General
homeobox protein
Properties
SIZE: entity length = 267 aa
MW = 29 kD
COMPARTMENT: cell nucleus
MOTIF: homeodomain
SITE: 142-201
Database Correlations
OMIM correlations
MORBIDMAP 123101
UniProt P35548
Pfam PF00046
Kegg hsa:4488
References
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=MSX2
- UniProt :accession P35548