1. Gene
  2. Ush2a - usherin Gene

Ush2a - usherin Gene

种属: Mus musculus

同用名: Gm676; Gm983; Ushrn; Mush2a; A930011D15Rik; A930037M10Rik

基因 ID: 22283 | 基因类型: protein coding

关于 Ush2a

功能概要

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 基因产物(1)

mRNA Protein Name
NM_021408.3 NP_067383.3 usherin precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables collagen binding IDA
IDA: 通过直接分析推断
14676276 MGI
enables identical protein binding IPI
IPI: 通过物理相互作用推断
25406310 MGI
enables myosin binding IPI
IPI: 通过物理相互作用推断
17567809 MGI
enables protein binding IPI
IPI: 通过物理相互作用推断
16301217 MGI
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within establishment of localization in cell IMP
IMP: 通过突变表型推断
24334608 MGI
acts upstream of or within establishment of protein localization IMP
IMP: 通过突变表型推断
24334608 MGI
involved in hair cell differentiation IEP
IEP: 通过表达模式推断
16301217 MGI
acts upstream of or within inner ear auditory receptor cell differentiation IMP
IMP: 通过突变表型推断
17360538 MGI
acts upstream of or within photoreceptor cell maintenance IMP
IMP: 通过突变表型推断
17360538 MGI
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of USH2 complex IDA
IDA: 通过直接分析推断
20502675 MGI
part of USH2 complex IPI
IPI: 通过物理相互作用推断
25406310 MGI
located in apical plasma membrane IDA
IDA: 通过直接分析推断
17360538 MGI
located in basement membrane IDA
IDA: 通过直接分析推断
14676276 MGI
located in ciliary basal body IDA
IDA: 通过直接分析推断
17906286 MGI
located in periciliary membrane compartment IDA
IDA: 通过直接分析推断
20502675 MGI
located in photoreceptor connecting cilium IDA
IDA: 通过直接分析推断
17906286 MGI
located in photoreceptor inner segment IDA
IDA: 通过直接分析推断
21212183 MGI
located in stereocilia ankle link IDA
IDA: 通过直接分析推断
20502675 MGI
part of stereocilia ankle link complex IDA
IDA: 通过直接分析推断
17567809 MGI
located in stereocilium bundle IDA
IDA: 通过直接分析推断
17360538 MGI
located in stereocilium membrane IDA
IDA: 通过直接分析推断
16301217 MGI
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断
蛋白主名 其他名称

usherin

Usher syndrome 2A (autosomal recessive, mild) homolog

usher syndrome type IIa protein homolog

usher syndrome type-2A protein homolog

直系同源

种属 基因名 来源 基因 ID
Homo sapiens Ush2a NCBI NCBI:7399