Target intelligence / Profile preview

Gap junction beta-2 protein (Cx26)

Target
Cx26
Molecular classification
Ion channel, Connexin family, Gap junction protein
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Overview

Gap junction beta-2 protein (connexin 26, Cx26) is an integral membrane protein encoded by the *GJB2* gene. It forms gap junctions—specialized intercellular channels—that allow the direct exchange of ions, metabolites, and signaling molecules between adjacent cells, thus supporting tissue homeostasis and coordinated cellular function. Cx26 is abundantly expressed in the cochlea of the inner ear where it is essential for potassium ion transport critical in auditory transduction, as well as in the epidermis where it regulates growth and differentiation. Mutations in *GJB2* are the most frequent genetic cause of congenital, non-syndromic hearing loss worldwide. Additionally, abnormal expression of Cx26 has been linked with tumorigenesis, serving as both a prognostic marker (where high expression correlates with tumor progression and chemoresistance in several cancers) and a potential therapeutic target. Cx26 mutations are also involved in skin diseases and syndromic disorders combining hearing loss and dermatological symptoms.

Other names
Connexin 26GJB2gap junction protein, beta 2, 26kDaCX26CXB2_HUMANDFNA3DFNB1NSRD1
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Mechanism of action

Inhibition or modulation of gap junction intercellular communication, especially by altering the assembly, trafficking, or function of connexin 26 channels

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Biological functions

Intercellular communicationIon transport (particularly K+ ions)Signal transductionCell proliferationRegulation of cell cycleEpidermal growth and maturationTumor suppression
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Disease associations

Congenital deafness (DFNB1/DFNA3)Syndromic and non-syndromic hearing lossCancer (breast, colorectal, cervical, lung, pancreatic)Vohwinkel syndromeBart–Pumphrey syndromeOther skin disorders
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Safety considerations

Disruption of GJB2 function considered to have a high risk for hearing impairmentpossible effects on skin integritytherapeutically modulating gap junctions could affect vital cellular communication resulting in off-target or systemic effects
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Interacting drugs

Metastasis inhibitor-18 (experimental)
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Biomarkers

Prognostic marker in certain cancers (breast, colorectal, cervical, others)biomarker for hereditary non-syndromic deafness

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