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 have calcium ion binding activity. 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 | Length |
---|---|
UniProtKB:A0A8M9Q6D2
|
698 |
UniProtKB:A0A8M9PTW5
|
1932 |
Interactions and Pathways
No data available
Plasmids
No data available