Gene
msx2a
- ID
- ZDB-GENE-980526-322
- Name
- muscle segment homeobox 2a
- Symbol
- msx2a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in embryonic morphogenesis and regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. Is expressed in several structures, including epidermis; median fin fold; pectoral fin; pectoral fin bud; and vent. Human ortholog(s) of this gene implicated in craniosynostosis; craniosynostosis 2; and parietal foramina. Orthologous to human MSX2 (msh homeobox 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 13 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:111929 (12 images)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Seifinejad et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| craniosynostosis 2 | 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 | Additional Resources | Length | Homedomain-like superfamily | Homeobox, conserved site | Homeodomain | Homeodomain, metazoa | Msh Homeobox Transcriptional Regulators |
|---|---|---|---|---|---|---|---|
| UniProtKB:Q03357 | InterPro | 257 | |||||
| UniProtKB:Q4VBK3 | InterPro | 257 |
Interactions and Pathways
No data available
Plasmids
No data available