Gene
shox
- ID
- ZDB-GENE-051030-21
- Name
- shox homeobox
- Symbol
- shox Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to have sequence-specific DNA binding activity. Involved in bone mineralization; cell population proliferation; and pectoral fin development. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in Leri-Weill dyschondrosteosis. Is expressed in several structures, including digestive system; nervous system; pericardial region; pharyngeal arch; and pleuroperitoneal region. Orthologous to human SHOX (short stature homeobox).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 8 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Leri-Weill dyschondrosteosis | Alliance | Leri-Weill dyschondrosteosis | 127300 |
SHOX-related short stature | Alliance | Short stature, idiopathic familial | 300582 |
Langer mesomelic dysplasia | 249700 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
Werner syndrome | shoxsa41471/sa41471 | standard conditions | Tian et al., 2022 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Helix-turn-helix motif | Homedomain-like superfamily | Homeobox, conserved site | Homeodomain | OAR domain | Paired homeobox Bicoid subfamily |
---|---|---|---|---|---|---|---|
UniProtKB:A0A8M2BFC1
|
304 | ||||||
UniProtKB:B0S5T0
|
285 |
Interactions and Pathways
No data available
Plasmids
No data available