InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GJB2

Summary

InnateDB Protein

IDBP-13136.6

Last Modified

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

Gene Symbol

GJB2

Protein Name

gap junction protein, beta 2, 26kDa

Synonyms

CX26; DFNA3; DFNA3A; DFNB1; DFNB1A; HID; KID; NSRD1; PPK;

Species

Homo sapiens

Ensembl Protein

ENSP00000372295

InnateDB Gene

IDBG-13132 (GJB2)

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

Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]: 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:10830906, ECO:0000269PubMed:11313763, ECO:0000269PubMed:11439000, ECO:0000269PubMed:12121355, ECO:0000269PubMed:12239718, ECO:0000269PubMed:12786758, ECO:0000269PubMed:14722929, ECO:0000269PubMed:15666300, ECO:0000269PubMed:15994881, ECO:0000269PubMed:17660464, ECO:0000269PubMed:17666888, ECO:0000269PubMed:19384972, ECO:0000269PubMed:23680645, ECO:0000269PubMed:9328482, ECO:0000269PubMed:9336442, ECO:0000269PubMed:9471561, ECO:0000269PubMed:9529365}. Note=The disease is caused by mutations affecting the gene represented in this entry.Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]: 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:10807696, ECO:0000269PubMed:11313763, ECO:0000269PubMed:11439000, ECO:0000269PubMed:12786758, ECO:0000269PubMed:19384972, ECO:0000269PubMed:9620796}. Note=The disease is caused by mutations affecting the gene represented in this entry.Vohwinkel syndrome (VS) [MIM:124500]: VS is an autosomal dominant disease characterized by hyperkeratosis, constriction on fingers and toes and congenital deafness. {ECO:0000269PubMed:10369869, ECO:0000269PubMed:15954104, ECO:0000269PubMed:18688874}. Note=The disease is caused by mutations affecting the gene represented in this entry.Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350]: An autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high-frequency, sensorineural deafness. {ECO:0000269PubMed:10633135, ECO:0000269PubMed:10757647, ECO:0000269PubMed:12372058, ECO:0000269PubMed:15996214, ECO:0000269PubMed:17993581, ECO:0000269PubMed:9856479}. Note=The disease is caused by mutations affecting the gene represented in this entry.Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210]: An autosomal dominant form of ectodermal dysplasia. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Keratitis-ichthyosis-deafness syndrome is characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. Clinical features include deafness, ichthyosis, photophobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails. {ECO:0000269PubMed:11912510, ECO:0000269PubMed:12548749, ECO:0000269PubMed:12752120}. Note=The disease is caused by mutations affecting the gene represented in this entry.Bart-Pumphrey syndrome (BPS) [MIM:149200]: An autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability. {ECO:0000269PubMed:15482471, ECO:0000269PubMed:15952212}. Note=The disease is caused by mutations affecting the gene represented in this entry.Ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:602540]: An autosomal dominant keratinizing disorder characterized by sensorineural deafness and spiky hyperkeratosis affecting the entire skin. HID syndrome is considered to differ from the similar KID syndrome in the extent and time of occurrence of skin symptoms and the severity of the associated keratitis. {ECO:0000269PubMed:12072059}. 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 8 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	8 [view]
Protein-Protein	7 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005243	gap junction channel activity
GO:0005515	protein binding

Biological Process

GO:0006810	transport
GO:0007267	cell-cell signaling
GO:0007565	female pregnancy
GO:0007605	sensory perception of sound
GO:0016264	gap junction assembly
GO:0030539	male genitalia development
GO:0032355	response to estradiol
GO:0032570	response to progesterone
GO:0034599	cellular response to oxidative stress
GO:0044752	response to human chorionic gonadotropin
GO:0046697	decidualization
GO:0055085	transmembrane transport
GO:0061024	membrane organization

Cellular Component

GO:0005737	cytoplasm
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment
GO:0005886	plasma membrane
GO:0005921	gap junction
GO:0005922	connexon complex
GO:0016021	integral component of membrane
GO:0016328	lateral plasma membrane
GO:0030054	cell junction