Gene
eps8l2
- ID
- ZDB-GENE-131121-340
- Name
- EPS8 signaling adaptor L2
- Symbol
- eps8l2 Nomenclature History
- Previous Names
-
- si:ch1073-89b12.1
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to enable actin binding activity. Predicted to be involved in Rho protein signal transduction; positive regulation of ruffle assembly; and regulation of Rho protein signal transduction. Predicted to act upstream of or within phosphorylation. Predicted to be located in cytoplasm. Predicted to be active in ruffle membrane. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 106. Orthologous to human EPS8L2 (EPS8 signaling adaptor L2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
|---|---|---|---|
| autosomal recessive nonsyndromic deafness 106 | Alliance | Deafness autosomal recessive 106 | 617637 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001452 | SH3 domain |
| Domain | IPR006020 | PTB/PI domain |
| Domain | IPR013625 | Tensin/EPS8 phosphotyrosine-binding domain |
| Domain | IPR033928 | Epidermal growth factor receptor kinase substrate, phosphotyrosine-binding domain |
| Domain | IPR035462 | Eps8, SH3 domain |
| Domain | IPR041418 | SAM domain |
| Domain | IPR055093 | EPS8, spectrin-like domain |
| Family | IPR039801 | Epidermal growth factor receptor kinase substrate 8-like |
| Homologous_superfamily | IPR011993 | PH-like domain superfamily |
| Homologous_superfamily | IPR013761 | Sterile alpha motif/pointed domain superfamily |
| Homologous_superfamily | IPR036028 | SH3-like domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Epidermal growth factor receptor kinase substrate 8-like | Epidermal growth factor receptor kinase substrate, phosphotyrosine-binding domain | Eps8, SH3 domain | EPS8, spectrin-like domain | PH-like domain superfamily | PTB/PI domain | SAM domain | SH3 domain | SH3-like domain superfamily | Sterile alpha motif/pointed domain superfamily | Tensin/EPS8 phosphotyrosine-binding domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:X1WFM8 | InterPro | 670 | |||||||||||
| UniProtKB:A0A8M9PYN7 | InterPro | 631 | |||||||||||
| UniProtKB:A0A8M9PMZ9 | InterPro | 648 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
eps8l2-201
(1)
|
Ensembl | 1,956 nt | ||
| mRNA |
eps8l2-202
(1)
|
Ensembl | 2,968 nt | ||
| mRNA |
eps8l2-203
(1)
|
Ensembl | 630 nt | ||
| ncRNA |
si:ch1073-89b12.1-002
(1)
|
Ensembl | 380 nt | ||
| ncRNA |
si:ch1073-89b12.1-004
(1)
|
Ensembl | 765 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance