Ush2a - usherin Gene

Also Known as Gm676; Gm983; Ushrn; Mush2a; A930011D15Rik; A930037M10Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 22283

Summary

Enables Collagen binding activity; identical protein binding activity; and Myosin binding activity. Acts upstream of or within establishment of protein localization; neuron differentiation; and photoreceptor cell maintenance. Located in several cellular components, including periciliary membrane compartment; photoreceptor connecting cilium; and stereocilium membrane. Part of USH2 complex and stereocilia ankle link complex. Is expressed in sensory organ and testis. Used to study 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). [provided by Alliance of Genome Resources, Apr 2022]

Ush2a Products (1)

mRNA Protein Name
NM_021408.3 NP_067383.3 usherin precursor

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Verweise Source
enables collagen binding IDA
IDA: Inferred from direct assay
14676276 MGI
enables identical protein binding IPI
IPI: Inferred from physical interaction
25406310 MGI
enables myosin binding IPI
IPI: Inferred from physical interaction
17567809 MGI
enables protein binding IPI
IPI: Inferred from physical interaction
16301217 MGI
Biological Process GO Annotation Evidence Verweise Source
acts upstream of or within establishment of localization in cell IMP
IMP: Inferred from mutant phenotype
24334608 MGI
acts upstream of or within establishment of protein localization IMP
IMP: Inferred from mutant phenotype
24334608 MGI
involved in hair cell differentiation IEP
IEP: Inferred from expression pattern
16301217 MGI
acts upstream of or within inner ear auditory receptor cell differentiation IMP
IMP: Inferred from mutant phenotype
17360538 MGI
acts upstream of or within photoreceptor cell maintenance IMP
IMP: Inferred from mutant phenotype
17360538 MGI
Cellular Component GO Annotation Evidence Verweise Source
part of USH2 complex IDA
IDA: Inferred from direct assay
20502675 MGI
part of USH2 complex IPI
IPI: Inferred from physical interaction
25406310 MGI
located in apical plasma membrane IDA
IDA: Inferred from direct assay
17360538 MGI
located in basement membrane IDA
IDA: Inferred from direct assay
14676276 MGI
located in ciliary basal body IDA
IDA: Inferred from direct assay
17906286 MGI
located in periciliary membrane compartment IDA
IDA: Inferred from direct assay
20502675 MGI
located in photoreceptor connecting cilium IDA
IDA: Inferred from direct assay
17906286 MGI
located in photoreceptor inner segment IDA
IDA: Inferred from direct assay
21212183 MGI
located in stereocilia ankle link IDA
IDA: Inferred from direct assay
20502675 MGI
part of stereocilia ankle link complex IDA
IDA: Inferred from direct assay
17567809 MGI
located in stereocilium bundle IDA
IDA: Inferred from direct assay
17360538 MGI
located in stereocilium membrane IDA
IDA: Inferred from direct assay
16301217 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

usherin

  • Usher syndrome 2A (autosomal recessive, mild) homolog

  • usher syndrome type IIa protein homolog

  • usher syndrome type-2A protein homolog

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (6)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-147412 Ultevursen Modulator 94.24% Unkown
HY-147412D FAM labled Ultevursen sodium / Unkown
HY-147412E Cy3 labled Ultevursen sodium / Unkown
HY-RS15518 USH2A Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22899 Ush2a Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS29413 Ush2a Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Ush2a NCBI NCBI:7399