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 animal organ development and 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
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR013032 | EGF-like, conserved site |
| Conserved_site | IPR018097 | EGF-like calcium-binding, conserved site |
| Domain | IPR000742 | EGF-like domain |
| Domain | IPR001881 | EGF-like calcium-binding domain |
| Domain | IPR017878 | TB domain |
| Domain | IPR024731 | EGF domain |
| Domain | IPR026823 | Complement Clr-like EGF domain |
| Domain | IPR040872 | Fibrillin 1, unique N-terminal domain |
| Domain | IPR049388 | Fibrillin, first EGF domain |
| Domain | IPR049883 | NOTCH1 EGF-like calcium-binding domain |
| Family | IPR052080 | von Willebrand factor C/EGF & Fibrillin |
| Homologous_superfamily | IPR009030 | Growth factor receptor cysteine-rich domain superfamily |
| Homologous_superfamily | IPR036773 | TGF-beta binding (TB) domain superfamily |
| PTM | IPR000152 | EGF-type aspartate/asparagine hydroxylation site |
Domain Details Per Protein
| Protein | Additional Resources | Length | Complement Clr-like EGF domain | EGF domain | EGF-like calcium-binding, conserved site | EGF-like calcium-binding domain | EGF-like, conserved site | EGF-like domain | EGF-type aspartate/asparagine hydroxylation site | Fibrillin 1, unique N-terminal domain | Fibrillin, first EGF domain | Growth factor receptor cysteine-rich domain superfamily | NOTCH1 EGF-like calcium-binding domain | TB domain | TGF-beta binding (TB) domain superfamily | von Willebrand factor C/EGF & Fibrillin |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9Q6D2 | InterPro | 698 | ||||||||||||||
| UniProtKB:A0A8M9PTW5 | InterPro | 1932 | ||||||||||||||
| UniProtKB:A0AB32TYI0 | InterPro | 2695 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available