Ush2a - usherin Gene

Mus musculus

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

Gene ID: 22283 | Gene type: protein coding

About Ush2a

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	Reference	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	Reference	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	Reference	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

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-147412	Ultevursen		/	Phase 3

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
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

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