Gene
fbln5
- ID
- ZDB-GENE-041010-54
- Name
- fibulin 5
- Symbol
- fbln5 Nomenclature History
- Previous Names
-
- zgc:103575 (1)
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to have calcium ion binding activity. Predicted to be involved in elastic fiber assembly. Predicted to localize to extracellular space. Human ortholog(s) of this gene implicated in age related macular degeneration; autosomal dominant cutis laxa 2; autosomal recessive cutis laxa type IA; and cutis laxa. Is expressed in bulbus arteriosus. Orthologous to human FBLN5 (fibulin 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:103575 (1 image)
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 |
|---|---|---|---|
| autosomal dominant cutis laxa 2 | Alliance | ?Cutis laxa, autosomal dominant 2 | 614434 |
| autosomal recessive cutis laxa type IA | Alliance | Cutis laxa, autosomal recessive, type IA | 219100 |
| Charcot-Marie-Tooth disease, demyelinating, type 1H | 619764 | ||
| Macular degeneration, age-related, 3 | 608895 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018097 | EGF-like calcium-binding, conserved site |
| Domain | IPR000742 | EGF-like domain |
| Domain | IPR001881 | EGF-like calcium-binding domain |
| Domain | IPR026823 | Complement Clr-like EGF domain |
| Domain | IPR049883 | NOTCH1 EGF-like calcium-binding domain |
| Family | IPR050751 | Extracellular matrix structural protein |
| Homologous_superfamily | IPR009030 | Growth factor receptor cysteine-rich 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 domain | EGF-type aspartate/asparagine hydroxylation site | Extracellular matrix structural protein | Growth factor receptor cysteine-rich domain superfamily | NOTCH1 EGF-like calcium-binding domain |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q5XJ74
|
477 | ||||||||
|
UniProtKB:B8A4X3
|
477 |
Interactions and Pathways
No data available
Plasmids
No data available