Gene
actn4
- ID
- ZDB-GENE-030131-940
- Name
- actinin, alpha 4
- Symbol
- actn4 Nomenclature History
- Previous Names
-
- wu:fb53f05
- zgc:63508
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to enable actin filament binding activity. Predicted to be involved in actin cytoskeleton organization and muscle cell development. Predicted to act upstream of or within protein transport. Predicted to be located in anchoring junction. Predicted to be active in several cellular components, including Z disc; cell junction; and cortical actin cytoskeleton. Is expressed in several structures, including digestive system; fin bud; nervous system; pericardial region; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in focal segmental glomerulosclerosis and focal segmental glomerulosclerosis 1. Orthologous to human ACTN4 (actinin alpha 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:63508 (1 image)
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 |
|---|---|---|---|
| focal segmental glomerulosclerosis 1 | Alliance | Glomerulosclerosis, focal segmental, 1 | 603278 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR018247 | EF-Hand 1, calcium-binding site |
| Conserved_site | IPR001589 | Actinin-type actin-binding domain, conserved site |
| Domain | IPR001715 | Calponin homology domain |
| Domain | IPR002048 | EF-hand domain |
| Domain | IPR014837 | EF-hand, Ca insensitive |
| Homologous_superfamily | IPR011992 | EF-hand domain pair |
| Homologous_superfamily | IPR036872 | CH domain superfamily |
| Repeat | IPR002017 | Spectrin repeat |
| Repeat | IPR018159 | Spectrin/alpha-actinin |
Domain Details Per Protein
| Protein | Additional Resources | Length | Actinin-type actin-binding domain, conserved site | Calponin homology domain | CH domain superfamily | EF-Hand 1, calcium-binding site | EF-hand, Ca insensitive | EF-hand domain | EF-hand domain pair | Spectrin/alpha-actinin | Spectrin repeat |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:H9GX78 | InterPro | 426 | |||||||||
| UniProtKB:A0A8M9QBU7 | InterPro | 896 | |||||||||
| UniProtKB:A0A8M9QL95 | InterPro | 923 | |||||||||
| UniProtKB:Q7SYE2 | InterPro | 901 | |||||||||
| UniProtKB:A0A8M9QH34 | InterPro | 896 | |||||||||
| UniProtKB:A0A8M9QH30 | InterPro | 923 | |||||||||
| UniProtKB:A0A8M9QPR0 | InterPro | 830 | |||||||||
| UniProtKB:A0AB32T317 | InterPro | 830 | |||||||||
| UniProtKB:A0AB32T3E5 | InterPro | 808 | |||||||||
| UniProtKB:A0AB32T4V1 | InterPro | 803 | |||||||||
| UniProtKB:A0AB32T522 | InterPro | 803 | |||||||||
| UniProtKB:A0AB32T8G2 | InterPro | 808 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available