Gene
espn
- ID
- ZDB-GENE-081105-173
- Name
- espin
- Symbol
- espn Nomenclature History
- Previous Names
-
- si:dkey-77h17.1
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to have actin filament binding activity. Predicted to be involved in actin filament bundle assembly. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 36. Orthologous to human ESPN (espin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Desban et al., 2019
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Desban et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive nonsyndromic deafness 36 | Alliance | Deafness, autosomal recessive 36 | 609006 |
| autosomal recessive nonsyndromic deafness 36 | Alliance | Deafness, neurosensory, without vestibular involvement, autosomal dominant | 609006 |
| ?Usher syndrome, type 1M | 618632 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Ankyrin repeat | Ankyrin repeat-containing domain superfamily | Espin and Espin-like domain-containing protein | WH2 domain |
|---|---|---|---|---|---|
|
UniProtKB:A0A8M3AVH1
|
897 | ||||
|
UniProtKB:A0A8M3BC25
|
895 | ||||
|
UniProtKB:A0A8M3AVI9
|
891 | ||||
|
UniProtKB:B0S4T9
|
873 | ||||
|
UniProtKB:A0A8M3B569
|
874 | ||||
|
UniProtKB:A0A8M3B290
|
898 | ||||
|
UniProtKB:A0A8M3B294
|
867 |
Interactions and Pathways
No data available
Plasmids
No data available