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 basement 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

No data available

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

Human Disease	Fish	Conditions	Citations
Usher syndrome type 2	ush2a^hzu6/hzu6	standard conditions	Han et al., 2018
Usher syndrome type 2A	ush2a^rmc1/rmc1	standard conditions	Dona et al., 2018
Usher syndrome type 2A	ush2a^b1245/b1245	standard conditions	Dona et al., 2018

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:Q1MTD2 InterPro	5236
UniProtKB:A0A2R8QIG1 InterPro	117

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Length (nt)	Analysis
mRNA	ush2a-201 (1) Ensembl	15711 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-ush2a	polyclonal	ush2a		Rabbit	IHC	Novus Biologicals, LLC	4
Ab2-ush2a		ush2a		Guinea pig	IHC		1

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Ensembl Gene Tree

Citations