Gene

ush2a

ID
ZDB-GENE-060503-794
Name
Usher syndrome 2A (autosomal recessive, mild)
Symbol
ush2a Nomenclature History
Previous Names
  • si:ch211-279e11.1
Type
protein_coding_gene
Location
Chr: 17 Mapping Details/Browsers
Description
Involved in eye photoreceptor cell development; response to auditory stimulus; and sensory perception of light stimulus. Predicted to localize to integral component of membrane. Is expressed in eye and photoreceptor cell. Used to study Usher syndrome type 2 and Usher syndrome type 2A. Human ortholog(s) of this gene implicated in Usher syndrome (multiple); nonsyndromic deafness; and retinitis pigmentosa (multiple). Orthologous to human USH2A (usherin).
Genome Resources
Note
None
Expression
All Expression Data
5 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
18 figures from 4 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ush2a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
retinitis pigmentosa 39 Alliance Retinitis pigmentosa 39 613809
Usher syndrome type 2A Alliance Usher syndrome, type 2A 276901
Associated With ush2a Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000742 EGF-like domain
Domain IPR001791 Laminin G domain
Domain IPR002049 Laminin EGF domain
Domain IPR003961 Fibronectin type III
Domain IPR006558 LamG-like jellyroll fold
Domain IPR008211 Laminin, N-terminal
Family IPR026915 Usherin
Homologous_superfamily IPR013320 Concanavalin A-like lectin/glucanase domain superfamily
Homologous_superfamily IPR013783 Immunoglobulin-like fold
Homologous_superfamily IPR036116 Fibronectin type III superfamily
Homologous_superfamily IPR038684 Laminin, N-terminal domain superfamily
Domain Details Per Protein
Protein Length Concanavalin A-like lectin/glucanase domain superfamily EGF-like domain Fibronectin type III Fibronectin type III superfamily Immunoglobulin-like fold LamG-like jellyroll fold Laminin EGF domain Laminin G domain Laminin, N-terminal Laminin, N-terminal domain superfamily Usherin
UniProtKB:A0A2R8QIG1 117
UniProtKB:Q1MTD2 5236
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-ush2a polyclonal Rabbit
  • IHC
Novus Biologicals, LLC
4
Ab2-ush2a Guinea pig
  • IHC
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations