ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable actin binding activity. Acts upstream of or within neuron projection morphogenesis. Predicted to be located in stereocilium. Human ortholog(s) of this gene implicated in Usher syndrome type 1 and 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 |
| Deafness, autosomal dominant 91 | 621556 | ||
| ?Usher syndrome, type 1M | 618632 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Ankyrin repeat | Ankyrin repeat-containing domain superfamily | Espin and Espin-like domain-containing protein | WH2 domain |
|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3AVH1 | InterPro | 897 | ||||
| UniProtKB:A0A8M3BC25 | InterPro | 895 | ||||
| UniProtKB:A0A8M3AVI9 | InterPro | 891 | ||||
| UniProtKB:B0S4T9 | InterPro | 873 | ||||
| UniProtKB:A0A8M3B569 | InterPro | 874 | ||||
| UniProtKB:A0A8M3B290 | InterPro | 898 | ||||
| UniProtKB:A0A8M3B294 | InterPro | 867 | ||||
| UniProtKB:A0AB32TUS4 | InterPro | 766 | ||||
| UniProtKB:A0AB32TWV2 | InterPro | 890 | ||||
| UniProtKB:A0AB32TYK9 | InterPro | 866 | ||||
| UniProtKB:A0AC58G7U9 | InterPro | 843 | ||||
| UniProtKB:A0AC58G7V3 | InterPro | 818 | ||||
| UniProtKB:A0AC58G7V5 | InterPro | 842 | ||||
| UniProtKB:A0AC58G7W2 | InterPro | 741 | ||||
| UniProtKB:A0AC58G7W5 | InterPro | 895 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers