Gjb6 - gap junction protein, beta 6 Gene
Also Known as Cx30; Cxnf; D14Bwg0506e
Species: Mus musculus
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 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
14595769 | MGI |
| Biological Process GO Annotation | Evidence | References | 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 | References | Source |
|---|---|---|---|
| located in gap junction |
IDA
IDA: Inferred from direct assay
|
14595769 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
gap junction beta-6 protein |
|
|