USH2A - Ush2a usherin Gene

Also Known as RGD1560269

Species: Rattus norvegicus

Gene Type: protein coding
Gene ID: 289369

Summary

Predicted to enable Collagen binding activity; identical protein binding activity; and Myosin binding activity. Involved in retina development in camera-type eye. Located in stereocilium and synapse. Colocalizes with several cellular components, including neuronal cell body; photoreceptor connecting cilium; and photoreceptor inner segment. 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_001302219.1 NP_001289148.1 usherin
Biological Process GO Annotation Evidence References Source
involved in retina development in camera-type eye IEP
IEP: Inferred from expression pattern
12160733 RGD
Cellular Component GO Annotation Evidence References Source
located in neuronal cell body IDA
IDA: Inferred from direct assay
16434480 RGD
located in photoreceptor connecting cilium IDA
IDA: Inferred from direct assay
16434480 RGD
located in photoreceptor inner segment IDA
IDA: Inferred from direct assay
16434480 RGD
located in stereocilium IDA
IDA: Inferred from direct assay
16301216 RGD
located in terminal bouton IDA
IDA: Inferred from direct assay
16434480 RGD
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 2A homolog

  • usher syndrome type IIa protein homolog

  • usher syndrome type-2A protein homolog

Orthologs Information

Species Symbol Source ID
Homo sapiens USH2A NCBI NCBI:7399