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 contribute to Rac guanyl-nucleotide exchange factor activity. Predicted to be involved in Rho protein signal transduction; positive regulation of ruffle assembly; and regulation of Rho protein signal transduction. Predicted to localize to ruffle membrane. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 106. Orthologous to human EPS8L2 (EPS8 like 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With eps8l2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal recessive nonsyndromic deafness 106 Alliance Deafness autosomal recessive 106 617637
Associated With eps8l2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
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 Length Epidermal growth factor receptor kinase substrate 8-like Epidermal growth factor receptor kinase substrate, phosphotyrosine-binding domain Eps8, SH3 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 670
UniProtKB:A0A8M9PYN7 631
UniProtKB:A0A8M9PMZ9 648
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Citations