Gene
flncb
- ID
- ZDB-GENE-041008-175
- Name
- filamin C, gamma b (actin binding protein 280)
- Symbol
- flncb Nomenclature History
- Previous Names
-
- im:7139256
- sot
- wu:fc02d03
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Predicted to enable actin filament binding activity. Acts upstream of or within several processes, including locomotory behavior; muscle cell cellular homeostasis; and organelle assembly. Predicted to be located in intracellular membraneless organelle. Is expressed in several structures, including adaxial cell; optic vesicle; primitive heart tube; retina; and skeletal muscle cell. Used to study autosomal dominant polycystic kidney disease and dilated cardiomyopathy. Human ortholog(s) of this gene implicated in distal myopathy 4; hypertrophic cardiomyopathy 26; and myofibrillar myopathy 5. Orthologous to human FLNC (filamin C).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7139256 (4 images)
Wild Type Expression Summary
- All Phenotype Data
- 14 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| distal myopathy 4 | Alliance | Myopathy, distal, 4 | 614065 |
| hypertrophic cardiomyopathy 26 | Alliance | Arrhythmogenic right ventricular dysplasia, familial | 617047 |
| hypertrophic cardiomyopathy 26 | Alliance | Cardiomyopathy, familial hypertrophic, 26 | 617047 |
| hypertrophic cardiomyopathy 26 | Alliance | Cardiomyopathy, familial restrictive 5 | 617047 |
| myofibrillar myopathy 5 | Alliance | Myopathy, myofibrillar, 5 | 609524 |
1 - 5 of 5
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| autosomal dominant polycystic kidney disease | WT + MO1-flncb | standard conditions | Adams et al., 2012 |
| dilated cardiomyopathy | WT + MO2-flncb + MO4-tp53 | standard conditions | Begay et al., 2016 |
1 - 2 of 2
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 |
1 - 5 of 8 Show all
Domain Details Per Protein
| Protein | Additional Resources | 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:A0A8M9PV14 | InterPro | 2691 | ||||||||
| UniProtKB:A0A8M9PHR9 | InterPro | 2773 | ||||||||
| UniProtKB:A0A8M9Q104 | InterPro | 2742 | ||||||||
| UniProtKB:A0A8M9PHS4 | InterPro | 2701 | ||||||||
| UniProtKB:A0A8M9Q107 | InterPro | 2660 |
1 - 5 of 10 Show all
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available