1. Gene
  2. Gjb6 - gap junction protein, beta 6 Gene

Gjb6 - gap junction protein, beta 6 Gene

种属: Mus musculus

同用名: Cx30; Cxnf; D14Bwg0506e

基因 ID: 14623 | 基因类型: protein coding

关于 Gjb6

功能概要

Predicted to enable cytoskeletal protein binding activity and gap junction channel activity involved in cell communication by electrical coupling. Acts upstream of or within ear morphogenesis and sensory perception of sound. Located in gap junction. Is expressed in bladder; spiral ligament; urinary system; and urothelium of bladder. Used to study Clouston syndrome and autosomal recessive nonsyndromic deafness 1A. Human ortholog(s) of this gene implicated in Clouston syndrome; autosomal dominant nonsyndromic deafness 3B; autosomal recessive nonsyndromic deafness 1A; autosomal recessive nonsyndromic deafness 1B; and ectodermal dysplasia. Orthologous to human GJB6 (Gap Junction Protein beta 6). [provided by Alliance of Genome Resources, Apr 2022]

Gjb6 基因产物(2)

mRNA Protein Name
NM_001010937.2 NP_001010937.1 gap junction beta-6 protein
NM_001271663.1 NP_001258592.1 gap junction beta-6 protein
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 protein binding IPI
IPI: 通过物理相互作用推断
14595769 MGI
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within ear morphogenesis IMP
IMP: 通过突变表型推断
12490528 MGI
acts upstream of or within sensory perception of sound IMP
IMP: 通过突变表型推断
12490528 MGI
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in gap junction IDA
IDA: 通过直接分析推断
14595769 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

gap junction beta-6 protein

connexin f

connexin-30

gap junction membrane channel protein beta 6

直系同源

种属 基因名 来源 基因 ID
Homo sapiens Gjb6 NCBI NCBI:10804