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

Gjb6 - gap junction protein, beta 6 Gene

Mus musculus

Also known as Cx30; Cxnf; D14Bwg0506e

Gene ID: 14623 | Gene type: protein coding

About Gjb6

Summary

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 Products(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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
14595769 MGI
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within ear morphogenesis IMP
IMP: Inferred from mutant phenotype
12490528 MGI
acts upstream of or within sensory perception of sound IMP
IMP: Inferred from mutant phenotype
12490528 MGI
Cellular Component GO Annotation Evidence Reference Source
located in gap junction IDA
IDA: Inferred from direct assay
14595769 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

gap junction beta-6 protein

connexin f

connexin-30

gap junction membrane channel protein beta 6

Orthologs Information

Species Symbol Source ID
Homo sapiens Gjb6 NCBI NCBI:10804