Gene
flnbb
- ID
- ZDB-GENE-041026-1
- Name
- filamin B b
- Symbol
- flnbb Nomenclature History
- Previous Names
-
- flnb (1)
- 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 enable actin filament binding activity. Predicted to be involved in nervous system development. Predicted to act upstream of or within actin cytoskeleton organization. Predicted to be located in intracellular membraneless organelle. 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