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 enable actin filament binding activity. Acts upstream of or within locomotory behavior and muscle cell cellular homeostasis. Predicted to be located in intracellular membraneless organelle. Is expressed in adaxial cell; muscle pioneer; and slow muscle cell. 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
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa6812 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa15040 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa18138 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa24724 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38132 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38133 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38134 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa39492 | Allele with one point mutation | Unknown | Premature Stop | ENU |
1 - 8 of 8
Show
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-flnca | LaCoursiere et al., 2024 | |
| CRISPR2-flnca | LaCoursiere et al., 2024 | |
| MO1-flnca | N/A | (2) |
| MO2-flnca | N/A | Bührdel et al., 2015 |
1 - 4 of 4
Show
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
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:A0A0R4IUS4 | InterPro | 2702 | ||||||||
| UniProtKB:A0A8M6YYI5 | InterPro | 2701 |
1 - 2 of 2
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance