Version: 8.0.0Date: Tue Jan 28 2025
Gene
GJB6
- Species
- Homo sapiens
- Symbol
- GJB6
- Name
- gap junction protein beta 6
- Synonyms
- connexin 30
- connexin-30
- Biotype
- protein coding gene
- Automated Description
- Enables cytoskeletal protein binding activity and gap junction channel activity involved in cell communication by electrical coupling. Involved in gap junction assembly; gap junction-mediated intercellular transport; and transmembrane transport. Located in actin filament and gap junction. Implicated in Clouston syndrome; autosomal dominant nonsyndromic deafness 3B; autosomal recessive nonsyndromic deafness 1A; autosomal recessive nonsyndromic deafness 1B; and ectodermal dysplasia.
- RGD Description
- Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR11984
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr13:20221962...20232365 - (10.40 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.