Gene
fbn2b
- ID
- ZDB-GENE-090112-3
- Name
- fibrillin 2b
- Symbol
- fbn2b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to have extracellular matrix structural constituent. Involved in several processes, including circulatory system development; notochord morphogenesis; and regulation of cell proliferation involved in heart valve morphogenesis. Predicted to localize to extracellular matrix. Human ortholog(s) of this gene implicated in congenital contractural arachnodactyly and scoliosis. Is expressed in several structures, including epidermis; hypoblast; hypochord; immature eye; and paraxial mesoderm. Orthologous to several human genes including FBN3 (fibrillin 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 13 figures from 5 publications
- 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 |
| 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 | 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 | TB domain | TGF-beta binding (TB) domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:B6CS38
|
2868 | ||||||||||||
|
UniProtKB:A0A0G2KQ62
|
2868 |
Interactions and Pathways
No data available
Plasmids
No data available