Gene
msx2b
- ID
- ZDB-GENE-980526-492
- Name
- muscle segment homeobox 2b
- Symbol
- msx2b Nomenclature History
- Previous Names
-
- msh-D
- mshD
- msxd (1)
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to have DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II regulatory region sequence-specific DNA binding activity. Predicted to be involved in embryonic morphogenesis. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in several diseases, including cleft lip; orofacial cleft 5; parietal foramina; tooth and nail syndrome; and tooth disease (multiple). Is expressed in several structures, including fin bud; median fin fold; sensory system; solid lens vesicle; and vent. Orthologous to several human genes including MSX2 (msh homeobox 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 18 figures from 9 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu398 (17 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| craniosynostosis | Alliance | Craniosynostosis 2 | 604757 |
| parietal foramina | Alliance | Parietal foramina 1 | 168500 |
| Parietal foramina with cleidocranial dysplasia | 168550 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Homeobox, conserved site | Homeobox domain | Homeobox domain, metazoa | Homeobox-like domain superfamily |
|---|---|---|---|---|---|
|
UniProtKB:Q01704
|
226 | ||||
|
UniProtKB:A0A0J9YJK2
|
241 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available