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 be an extracellular matrix structural constituent. Acts upstream of or within several processes, including circulatory system development; notochord morphogenesis; and regulation of cell proliferation involved in heart valve morphogenesis. Predicted to be located in collagen-containing extracellular matrix and extracellular region. Predicted to be active in extracellular matrix. Is expressed in several structures, including epidermis; hypoblast; hypochord; immature eye; and paraxial mesoderm. Human ortholog(s) of this gene implicated in congenital contractural arachnodactyly and scoliosis. 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 | IPR026823 | Complement Clr-like EGF domain |
| Domain | IPR040872 | Fibrillin 1, unique N-terminal domain |
| Family | IPR011398 | 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 | Length | Complement Clr-like 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 | Fibrillin 1, unique N-terminal domain | Growth factor receptor cysteine-rich domain superfamily | TB domain | TGF-beta binding (TB) domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:B6CS38
|
2868 | |||||||||||
|
UniProtKB:E7FG71
|
252 | |||||||||||
|
UniProtKB:A0A0G2KQ62
|
2868 |
Interactions and Pathways
No data available
Plasmids
No data available