Gene
flnb
- ID
- ZDB-GENE-041026-1
- Name
- filamin B, beta (actin binding protein 278)
- Symbol
- flnb Nomenclature History
- Previous Names
-
- si:ch211-222g5.4
- si:ch211-222g5.6
- si:ch211-222g5.7
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to have actin binding activity. Predicted to be involved in actin cytoskeleton organization and cell differentiation. Human ortholog(s) of this gene implicated in Larsen syndrome; bone development disease (multiple); cleft palate; and spinal disease (multiple). Orthologous to human FLNB (filamin B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Shi et al., 2023
- 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 |
|---|---|---|---|
| atelosteogenesis | Alliance | Atelosteogenesis, type I | 108720 |
| atelosteogenesis | Alliance | Atelosteogenesis, type III | 108721 |
| Boomerang dysplasia | Alliance | Boomerang dysplasia | 112310 |
| Larsen syndrome | Alliance | Larsen syndrome | 150250 |
| spondylocarpotarsal synostosis syndrome | Alliance | Spondylocarpotarsal synostosis syndrome | 272460 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR001589 | Actinin-type actin-binding domain, conserved site |
| Domain | IPR001715 | Calponin homology domain |
| Family | IPR044801 | Filamin family |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR014756 | Immunoglobulin E-set |
| Homologous_superfamily | IPR036872 | CH domain superfamily |
| Repeat | IPR001298 | Filamin/ABP280 repeat |
| Repeat | IPR017868 | Filamin/ABP280 repeat-like |
Domain Details Per Protein
| Protein | Length | Actinin-type actin-binding domain, conserved site | Calponin homology domain | CH domain superfamily | Filamin/ABP280 repeat | Filamin/ABP280 repeat-like | Filamin family | Immunoglobulin E-set | Immunoglobulin-like fold |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PG47
|
2226 | ||||||||
|
UniProtKB:A0A8M9Q5B8
|
2236 | ||||||||
|
UniProtKB:A0A8M9PT69
|
1742 | ||||||||
|
UniProtKB:F1QGL5
|
2233 | ||||||||
|
UniProtKB:A0A8M9QA43
|
2239 | ||||||||
|
UniProtKB:A0A8M9PL29
|
1736 |
Interactions and Pathways
No data available
Plasmids
No data available