Gene
flna
- ID
- ZDB-GENE-030131-2145
- Name
- filamin A, alpha (actin binding protein 280)
- Symbol
- flna Nomenclature History
- Previous Names
-
- fb98b06
- fd09g03
- wu:fb98b06
- wu:fd09g03
- wu:fd49a06
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to have actin binding activity. Human ortholog(s) of this gene implicated in bone development disease (multiple); heart valve disease (multiple); and periventricular nodular heterotopia. Orthologous to human FLNA (filamin A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 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 |
|---|---|---|---|
| FG syndrome | Alliance | ?FG syndrome 2 | 300321 |
| frontometaphyseal dysplasia 1 | Alliance | Frontometaphyseal dysplasia 1 | 305620 |
| Melnick-Needles syndrome | Alliance | Melnick-Needles syndrome | 309350 |
| otopalatodigital syndrome type 1 | Alliance | Otopalatodigital syndrome, type I | 311300 |
| otopalatodigital syndrome type 2 | Alliance | Otopalatodigital syndrome, type II | 304120 |
| periventricular nodular heterotopia | Alliance | Heterotopia, periventricular, 1 | 300049 |
| terminal osseous dysplasia | Alliance | Terminal osseous dysplasia | 300244 |
| X-linked cardiac valvular dysplasia | Alliance | Cardiac valvular dysplasia, X-linked | 314400 |
| X-linked chronic idiopathic intestinal pseudo-obstruction | Alliance | Congenital short bowel syndrome | 300048 |
| X-linked chronic idiopathic intestinal pseudo-obstruction | Alliance | Intestinal pseudoobstruction, neuronal | 300048 |
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:A0A8M9PT53
|
2552 | ||||||||
|
UniProtKB:A0A8M3AV82
|
2544 | ||||||||
|
UniProtKB:A0A8M9PWT6
|
2523 |
Interactions and Pathways
No data available
Plasmids
No data available