Gene
flnca
- ID
- ZDB-GENE-070503-1
- Name
- filamin C, gamma a (actin binding protein 280)
- Symbol
- flnca Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to have actin binding activity. Involved in locomotory behavior and muscle cell cellular homeostasis. Human ortholog(s) of this gene implicated in distal muscular dystrophy 4; hypertrophic cardiomyopathy 26; and myofibrillar myopathy 5. Is expressed in adaxial cell; muscle pioneer; and slow muscle cell. Orthologous to human FLNC (filamin C).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
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 |
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:A0A0R4IUS4
|
2702 | ||||||||
|
UniProtKB:A0A8M6YYI5
|
2701 |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance