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 act upstream of or within regulation of DNA-templated transcription. 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 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 | Length | Homedomain-like superfamily | Homeobox, conserved site | Homeodomain | Homeodomain, metazoa | Msh Homeobox Transcriptional Regulators |
|---|---|---|---|---|---|---|
|
UniProtKB:Q03357
|
257 | |||||
|
UniProtKB:Q4VBK3
|
257 |
Interactions and Pathways
No data available
Plasmids
No data available