ZFIN is now using GRCz12tu for Genomic Data
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
Genome Assembly
GRCz12tu
Annotation Status
Current
Description
Acts upstream of or within several processes, including camera-type eye photoreceptor cell differentiation; photoreceptor cell maintenance; and phototransduction, visible light. Predicted to be located in cell projection and membrane. Predicted to be active in basement membrane. Is expressed in eye; macula; and photoreceptor cell. Used to study Usher syndrome type 2; Usher syndrome type 2A; and retinitis pigmentosa. 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
Comparative Information
Expression
All Expression Data
10 figures from 6 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
33 figures from 8 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
retinitis pigmentosa ush2armc1/rmc1 (TL) standard conditions Dulla et al., 2021
Usher syndrome type 2 ush2ahzu6/hzu6 standard conditions Han et al., 2018
Usher syndrome type 2A ush2armc1/rmc1 standard conditions Dona et al., 2018
Usher syndrome type 2A ush2ab1245/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-type EGF domain
Domain IPR003961 Fibronectin type III
Domain IPR006558 LamG-like jellyroll fold
Domain IPR008211 Laminin, N-terminal
Family IPR050713 Receptor-type Tyrosine-protein Phosphatases/Ushers
Homologous_superfamily IPR013320 Concanavalin A-like lectin/glucanase domain superfamily
Homologous_superfamily IPR013783 Immunoglobulin-like fold
Homologous_superfamily IPR036116 Fibronectin type III superfamily
Domain Details Per Protein
Protein Additional Resources 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 G domain Laminin, N-terminal Laminin-type EGF domain Receptor-type Tyrosine-protein Phosphatases/Ushers
UniProtKB:A0A8M3ARH7 InterPro 5243
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA ush2a-201 (1)
Ensembl
Ensembl 15,711 nt
ZFIN BLAST
mRNA ush2a-202 (1)
Ensembl
Ensembl 587 nt
ZFIN BLAST
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
7
Ab2-ush2a Guinea pig
  • IHC
 2
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Genome Browsers
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations
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