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 binding activity and calcium ion binding activity. 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 | 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
|
426 | |||||||||
|
UniProtKB:A0A8M9QBU7
|
896 | |||||||||
|
UniProtKB:A0A8M9QL95
|
923 | |||||||||
|
UniProtKB:Q7SYE2
|
901 | |||||||||
|
UniProtKB:A0A8M9QH34
|
896 | |||||||||
|
UniProtKB:A0A8M9QH30
|
923 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available