InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GJB6

Summary

InnateDB Protein

IDBP-229125.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GJB6

Protein Name

gap junction protein, beta 6, 30kDa

Synonyms

CX30; DFNA3; DFNA3B; DFNB1B; ECTD2; ED2; EDH; HED; HED2;

Species

Homo sapiens

Ensembl Protein

ENSP00000382938

InnateDB Gene

IDBG-13254 (GJB6)

Protein Structure

UniProt Annotation

Function

One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.

Subcellular Localization

Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.

Disease Associations

Ectodermal dysplasia 2, Clouston type (ECTD2) [MIM:129500]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD2 is an autosomal dominant condition characterized by atrichosis, nail hypoplasia and deformities, hyperpigmentation of the skin, normal teeth, normal sweat and sebaceous gland function. Palmoplantar hyperkeratosis is a frequent feature. Hearing impairment has been detected in few cases. {ECO:0000269PubMed:11017065, ECO:0000269PubMed:11874494}. Note=The disease is caused by mutations affecting the gene represented in this entry.Deafness, autosomal recessive, 1B (DFNB1B) [MIM:612645]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269PubMed:11807148, ECO:0000269PubMed:15994881}. Note=The disease is caused by mutations affecting the gene represented in this entry.Deafness, autosomal dominant, 3B (DFNA3B) [MIM:612643]: A form of non-syndromic sensorineural hearing loss characterized by a variable phenotype, ranging from bilateral middle to high frequency hearing loss to profound sensorineural deafness. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269PubMed:10471490}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.