Gene
fbn2a
- ID
- ZDB-GENE-090112-4
- Name
- fibrillin 2a
- Symbol
- fbn2a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to enable calcium ion binding activity. Predicted to be involved in system development. Predicted to be located in extracellular matrix and extracellular region. Human ortholog(s) of this gene implicated in congenital contractural arachnodactyly and scoliosis. Orthologous to human FBN2 (fibrillin 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Talbot et al., 2016
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
|---|---|---|---|
| congenital contractural arachnodactyly | Alliance | Contractural arachnodactyly, congenital | 121050 |
| Macular degeneration, early-onset | 616118 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
| Protein | Additional Resources | Length |
|---|---|---|
| UniProtKB:A0A8M9Q6D2 | InterPro | 698 |
| UniProtKB:A0A8M9PTW5 | InterPro | 1932 |
| UniProtKB:A0AB32TYI0 | InterPro | 2695 |
Interactions and Pathways
No data available
Plasmids
No data available