Gjb2

Summary

Gene Symbol: Gjb2
Description: gap junction protein, beta 2
Alias: CXN-26, Cx26, gap junction beta-2 protein, connexin 26, gap junction channel protein connexin 26, gap junction membrane channel protein beta 2
Species: rat
Products:     Gjb2

Top Publications

  1. Schütz M, Auth T, Gehrt A, Bosen F, Körber I, Strenzke N, et al. The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndrome. Hum Mol Genet. 2011;20:28-39 pubmed publisher
    Mutations in the GJB2 gene coding for connexin26 (Cx26) can cause a variety of deafness and hereditary hyperproliferative skin disorders in humans...
  2. Lazic T, Horii K, Richard G, Wasserman D, Antaya R. A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome?. Pediatr Dermatol. 2008;25:535-40 pubmed publisher
    ..Several autosomal dominant mutations in the Connexin 26 gene (GJB2) have been discovered as a cause of this syndrome...
  3. Bakirtzis G, Choudhry R, Aasen T, Shore L, Brown K, Bryson S, et al. Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders. Hum Mol Genet. 2003;12:1737-44 pubmed
    ..role of connexins in dominantly inherited skin disease, transgenic mice were produced which expressed mutant connexin 26 [gjb2/connexin 26(D66H)], from a keratin 10 promoter, exclusively in the suprabasal epidermis (the cells in ..
  4. Matos T, Simões Teixeira H, Caria H, Gonçalves A, Chora J, Correia M, et al. Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients. Int J Audiol. 2013;52:466-71 pubmed publisher
    To assess the spectrum and prevalence of mutations in the GJB2 gene in Portuguese nonsyndromic sensorineural hearing loss (NSSHL) patients...
  5. Ly A, Yee P, Vessey K, Phipps J, Jobling A, Fletcher E. Early inner retinal astrocyte dysfunction during diabetes and development of hypoxia, retinal stress, and neuronal functional loss. Invest Ophthalmol Vis Sci. 2011;52:9316-26 pubmed publisher
    ..Astrocytes may play an early and key role in changes in retinal vasculature and inner retinal dysfunction in diabetes. ..
  6. Hashemi S, Ashraf M, Saboori M, Azarpira N, Darai M. Prevalence of GJB2 (CX26) gene mutations in south Iranian patients with autosomal recessive nonsyndromic sensorineural hearing loss. Mol Biol Rep. 2012;39:10481-7 pubmed publisher
    Hereditary hearing loss is a genetically heterogeneous disorder. Mutations in connexin 26 (CX26), are a major cause in many countries and are largely dependent on ethnic groups...
  7. Plante I, Wallis A, Shao Q, Laird D. Milk secretion and ejection are impaired in the mammary gland of mice harboring a Cx43 mutant while expression and localization of tight and adherens junction proteins remain unchanged. Biol Reprod. 2010;82:837-47 pubmed publisher
    ..Surprisingly, the levels and/or localization of Cx26 (Gjb2), Cx30 (Gjb6), Cx32 (Gjb1), E-cadherin, P-cadherin, beta-catenin, claudin-1, and occludin were all unaffected by ..
  8. Terrinoni A, Codispoti A, Serra V, Bruno E, Didona B, Paradisi M, et al. Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss. Biochem Biophys Res Commun. 2010;395:25-30 pubmed publisher
    ..is inherited as an autosomic dominant disease, due to mutations in the gene encoding gap junction protein GJB2 (connexin 26, Cx26)...
  9. Mese G, Sellitto C, Li L, Wang H, Valiunas V, Richard G, et al. The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome. Mol Biol Cell. 2011;22:4776-86 pubmed publisher
    Mutations in the GJB2 gene (Cx26) cause deafness in humans. Most are loss-of-function mutations and cause nonsyndromic deafness...
  10. Elias L, Wang D, Kriegstein A. Gap junction adhesion is necessary for radial migration in the neocortex. Nature. 2007;448:901-7 pubmed
    ..Here we show that the gap junction subunits connexin 26 (Cx26) and connexin 43 (Cx43) are expressed at the contact points between radial fibres and migrating neurons, ..

Detail Information

Publications62

  1. Schütz M, Auth T, Gehrt A, Bosen F, Körber I, Strenzke N, et al. The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndrome. Hum Mol Genet. 2011;20:28-39 pubmed publisher
    Mutations in the GJB2 gene coding for connexin26 (Cx26) can cause a variety of deafness and hereditary hyperproliferative skin disorders in humans...
  2. Lazic T, Horii K, Richard G, Wasserman D, Antaya R. A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome?. Pediatr Dermatol. 2008;25:535-40 pubmed publisher
    ..Several autosomal dominant mutations in the Connexin 26 gene (GJB2) have been discovered as a cause of this syndrome...
  3. Bakirtzis G, Choudhry R, Aasen T, Shore L, Brown K, Bryson S, et al. Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders. Hum Mol Genet. 2003;12:1737-44 pubmed
    ..role of connexins in dominantly inherited skin disease, transgenic mice were produced which expressed mutant connexin 26 [gjb2/connexin 26(D66H)], from a keratin 10 promoter, exclusively in the suprabasal epidermis (the cells in ..
  4. Matos T, Simões Teixeira H, Caria H, Gonçalves A, Chora J, Correia M, et al. Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients. Int J Audiol. 2013;52:466-71 pubmed publisher
    To assess the spectrum and prevalence of mutations in the GJB2 gene in Portuguese nonsyndromic sensorineural hearing loss (NSSHL) patients...
  5. Ly A, Yee P, Vessey K, Phipps J, Jobling A, Fletcher E. Early inner retinal astrocyte dysfunction during diabetes and development of hypoxia, retinal stress, and neuronal functional loss. Invest Ophthalmol Vis Sci. 2011;52:9316-26 pubmed publisher
    ..Astrocytes may play an early and key role in changes in retinal vasculature and inner retinal dysfunction in diabetes. ..
  6. Hashemi S, Ashraf M, Saboori M, Azarpira N, Darai M. Prevalence of GJB2 (CX26) gene mutations in south Iranian patients with autosomal recessive nonsyndromic sensorineural hearing loss. Mol Biol Rep. 2012;39:10481-7 pubmed publisher
    Hereditary hearing loss is a genetically heterogeneous disorder. Mutations in connexin 26 (CX26), are a major cause in many countries and are largely dependent on ethnic groups...
  7. Plante I, Wallis A, Shao Q, Laird D. Milk secretion and ejection are impaired in the mammary gland of mice harboring a Cx43 mutant while expression and localization of tight and adherens junction proteins remain unchanged. Biol Reprod. 2010;82:837-47 pubmed publisher
    ..Surprisingly, the levels and/or localization of Cx26 (Gjb2), Cx30 (Gjb6), Cx32 (Gjb1), E-cadherin, P-cadherin, beta-catenin, claudin-1, and occludin were all unaffected by ..
  8. Terrinoni A, Codispoti A, Serra V, Bruno E, Didona B, Paradisi M, et al. Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss. Biochem Biophys Res Commun. 2010;395:25-30 pubmed publisher
    ..is inherited as an autosomic dominant disease, due to mutations in the gene encoding gap junction protein GJB2 (connexin 26, Cx26)...
  9. Mese G, Sellitto C, Li L, Wang H, Valiunas V, Richard G, et al. The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome. Mol Biol Cell. 2011;22:4776-86 pubmed publisher
    Mutations in the GJB2 gene (Cx26) cause deafness in humans. Most are loss-of-function mutations and cause nonsyndromic deafness...
  10. Elias L, Wang D, Kriegstein A. Gap junction adhesion is necessary for radial migration in the neocortex. Nature. 2007;448:901-7 pubmed
    ..Here we show that the gap junction subunits connexin 26 (Cx26) and connexin 43 (Cx43) are expressed at the contact points between radial fibres and migrating neurons, ..
  11. Fallon M, Nathanson M, Mennone A, Saez J, Burgstahler A, Anderson J. Altered expression and function of hepatocyte gap junctions after common bile duct ligation in the rat. Am J Physiol. 1995;268:C1186-94 pubmed
    ..IF) localization and mRNA and protein levels of the two hepatocyte gap junction proteins connexin 32 and connexin 26, after hepatic injury induced by common bile duct ligation (CBDL) in the rat...
  12. Lautermann J, Frank H, Jahnke K, Traub O, Winterhager E. Developmental expression patterns of connexin26 and -30 in the rat cochlea. Dev Genet. 1999;25:306-11 pubmed
    ..In the cochlea of a 22-week-old human embryo, connexin26 and connexin30 could be detected in the lateral wall, suggesting that both connexins also play a crucial role in function of the human inner ear. ..
  13. Solomon I, Halat T, El Maghrabi M, O Neal M. Localization of connexin26 and connexin32 in putative CO(2)-chemosensitive brainstem regions in rat. Respir Physiol. 2001;129:101-21 pubmed
    ..to investigate the presence, distribution, and cellular localization of the gap junction proteins connexin26 (Cx26) and connexin32 (Cx32) in putative CO(2)-chemosensitive brainstem regions in both neonatal and adult rats...
  14. Risek B, Pozzi A, Gilula N. Modulation of gap junction expression during transient hyperplasia of rat epidermis. J Cell Sci. 1998;111 ( Pt 10):1395-404 pubmed
    ..retinoic acid (RA) and 12-O-tetradecanoylphorbol-13-acetate (TPA) on the expression of alpha1 (Cx43) and beta2 (Cx26) connexins, the two major gap junction gene products in mature rat epidermis...
  15. de Zwart Storm E, van Geel M, van Neer P, Steijlen P, Martin P, van Steensel M. A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. Am J Pathol. 2008;173:1113-9 pubmed publisher
    ..In the skin, connexins are involved in the regulation of epidermal growth and differentiation. GJB2 encodes connexin26, which is an important skin-expressed gap junction protein...
  16. Kojima T, Mitaka T, Mizuguchi T, Mochizuki Y. Effects of oxygen radical scavengers on connexins 32 and 26 expression in primary cultures of adult rat hepatocytes. Carcinogenesis. 1996;17:537-44 pubmed
    Although we recently reported our success in inducing and maintaining the gap junction proteins connexin 26 (Cx26) and connexin 32 (Cx32) in adult rat hepatocytes cultured in serum-free L-15 medium supplemented with epidermal growth ..
  17. Riahi Z, Hammami H, Ouragini H, Messai H, Zainine R, Bouyacoub Y, et al. Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss. Gene. 2013;525:1-4 pubmed publisher
    ..It is genetically heterogeneous with 60 causally-related genes identified to date. Mutations in GJB2 gene account for half of all cases of non-syndromic deafness...
  18. Rash J, Yasumura T, Davidson K, Furman C, Dudek F, Nagy J. Identification of cells expressing Cx43, Cx30, Cx26, Cx32 and Cx36 in gap junctions of rat brain and spinal cord. Cell Commun Adhes. 2001;8:315-20 pubmed
    We have identified cells expressing Cx26, Cx30, Cx32, Cx36 and Cx43 in gap junctions of rat central nervous system (CNS) using confocal light microscopic immunocytochemistry and freeze-fracture replica immunogold labeling (FRIL)...
  19. Tawadros T, Meda P, Leisinger H, Waeber G, Haefliger J. Connexin26 is regulated in rat urothelium by the scaffold protein IB1/JIP-1. Cell Commun Adhes. 2001;8:303-6 pubmed
    ..In the rat bladder, Cx43 is expressed by SMC and urothelial cells, whereas Cx26 expression is restricted to the epithelium...
  20. Santolim L, Amaral M, Fachi J, Mendes M, Oliveira C. Vitamin E and caloric restriction promote hepatic homeostasis through expression of connexin 26, N-cad, E-cad and cholesterol metabolism genes. J Nutr Biochem. 2017;39:86-92 pubmed publisher
    ..work investigates whether vitamin E, with or without caloric restriction (CR), alters the mRNA expression of Cx26, Cx32, Cx43, N-cadherins (N-cads), E-cadherins (E-cads) and alpha-smooth muscle actin (?-SMA), and evaluates their ..
  21. Bhalla S, Sharma R, Khandelwal G, Panda N, Khullar M. Absence of GJB6 mutations in Indian patients with non-syndromic hearing loss. Int J Pediatr Otorhinolaryngol. 2011;75:356-9 pubmed publisher
    ..The 13q11-q12 region contains the GJB2 and GJB6 genes, which code connexin 26 (CX26) and connexin 30 (CX30) proteins, respectively...
  22. Takiguchi Y, Sun G, Ogawa K, Matsunaga T. Long-lasting changes in the cochlear K+ recycling structures after acute energy failure. Neurosci Res. 2013;77:33-41 pubmed publisher
    ..and the levels of the Na,K-ATPase alpha and beta1 subunits and of NKCC1 were decreased in these cells, whereas connexin 26 (Cx26) level increased in the type 1 fibrocytes adjacent to the stria vascularis...
  23. Jäderstad J, Jäderstad L, Herlenius E. Dynamic changes in connexin expression following engraftment of neural stem cells to striatal tissue. Exp Cell Res. 2011;317:70-81 pubmed publisher
  24. Hochman J, Stockley T, Shipp D, Lin V, Chen J, Nedzelski J. Prevalence of Connexin 26 (GJB2) and Pendred (SLC26A4) mutations in a population of adult cochlear implant candidates. Otol Neurotol. 2010;31:919-22 pubmed publisher
    To assess the prevalence of Connexin 26 (GJB2), Connexin 30 (GJB6), and Pendred (SLC26A4) mutations in a population of adult cochlear implant patients with a history of either early idiopathic or hereditary progressive sensorineural ..
  25. del Castillo F, Cohen Salmon M, Charollais A, Caille D, Lampe P, Chavrier P, et al. Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins. Hum Mol Genet. 2010;19:262-75 pubmed publisher
    ..Sequence accession numbers. GenBank: Human CNST cDNA, NM_152609; mouse Cnst cDNA, NM_146105. ..
  26. Gravina L, Foncuberta M, Prieto M, Garrido J, Barreiro C, Chertkoff L. Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2. Int J Pediatr Otorhinolaryngol. 2010;74:250-4 pubmed publisher
    Mutations in DFNB1 locus, containing GJB2 (connexin 26) and GJB6 (connexin 30) genes, are the most common cause of autosomal recessive non-syndromic hearing loss. More than 100 mutations in GJB2 have been reported worldwide...
  27. Muramatsu T, Uekusa T, Masaoka T, Saitoh M, Hashimoto S, Abiko Y, et al. Differential expression and localization of connexins 26 and 43 in the rat gingival epithelium. Arch Histol Cytol. 2008;71:147-54 pubmed
    ..RT-PCR analysis revealed CX26 gene expression in both the upper and lower layers of the gingival epithelium and in the total epithelial layer, ..
  28. Grummer R, Traub O, Winterhager E. Gap junction connexin genes cx26 and cx43 are differentially regulated by ovarian steroid hormones in rat endometrium. Endocrinology. 1999;140:2509-16 pubmed
    In rat endometrium, expression of gap junction connexin-26 (cx26) in the epithelium and cx43 in the uterine stroma is suppressed by progesterone before implantation...
  29. Green L, LaBue M, Lazarus J, Jennings J. Reduced cell-cell communication in experimentally induced autoimmune thyroid disease. Endocrinology. 1996;137:2823-32 pubmed
    ..Both experimental and control rat thyroid tissues produced gap junction proteins connexin 43, connexin 32, and connexin 26. The connexins in nondiseased tissue was located in the plasma membrane at points of cell-cell contact and ..
  30. Coffey K, Krushinsky A, Green C, Donaldson P. Molecular profiling and cellular localization of connexin isoforms in the rat ciliary epithelium. Exp Eye Res. 2002;75:9-21 pubmed
    ..This enabled Cx26 and 31 to be specifically localized to spatially different gap junctions between NPE cells...
  31. Shin B, Suzuki T, Matsuzaki T, Tanaka S, Kuraoka A, Shibata Y, et al. Immunolocalization of GLUT1 and connexin 26 in the rat placenta. Cell Tissue Res. 1996;285:83-9 pubmed
    ..Double-immunofluorescence microscopy has shown that connexin 26 is present between these GLUT1-positive sites, i.e., between syncytiotrophoblastic layers I and II...
  32. You S, Tu Z, Kiang D. Direct modulation of tumor suppressor connexin 26 gene by human chorionic gonadotropin in rat mammary glands. Cancer Res. 1998;58:1498-502 pubmed
    ..Because connexin 26 (Cx26), a tumor suppressor gene candidate, can be up-regulated in mammary epithelial cells during lactation, we ..
  33. Adam C, Cyr D. Role of Specificity Protein-1 and Activating Protein-2 Transcription Factors in the Regulation of the Gap Junction Protein Beta-2 Gene in the Epididymis of the Rat. Biol Reprod. 2016;94:120 pubmed publisher
    In prepubertal rats, connexin 26 (GJB2) is expressed between adjacent columnar cells of the epididymis...
  34. Nüsken E, Gellhaus A, Kühnel E, Swoboda I, Wohlfarth M, Vohlen C, et al. Increased Rat Placental Fatty Acid, but Decreased Amino Acid and Glucose Transporters Potentially Modify Intrauterine Programming. J Cell Biochem. 2016;117:1594-603 pubmed publisher
    ..placental nutrient transporters for fatty acids (h-FABP, CD36), amino acids (SNAT1, SNAT2) and glucose (GLUT-1, Connexin 26) were examined by qRT-PCR, western blot and immunohistochemistry...
  35. Lu Y, Dai D, Chen Z, Cao X, Bu X, Wei Q, et al. Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China. J Biomed Res. 2011;25:309-18 pubmed publisher
    ..a total of 135 unrelated patients with nonsyndromic sensorineural hearing loss (NSHL) for mutational screening of GJB2, GJB3, GJB6, SLC26A4, SLC26A5 IVS2-2A>G and mitochondrial 12SrRNA, tRNA(Ser(UCN)) by PCR amplification and ..
  36. Liang C, Zhu Y, Zong L, Lu G, Zhao H. Cell degeneration is not a primary causer for Connexin26 (GJB2) deficiency associated hearing loss. Neurosci Lett. 2012;528:36-41 pubmed publisher
    Connexin26 (Cx26, GJB2) mutations can induce congenital deafness and are responsible for ?50% of nonsyndromic hearing loss in children...
  37. Forge A, Becker D, Casalotti S, Edwards J, Marziano N, Nevill G. Gap junctions in the inner ear: comparison of distribution patterns in different vertebrates and assessement of connexin composition in mammals. J Comp Neurol. 2003;467:207-31 pubmed
    ..in the mammalian inner ear by RT-PCR, Western blotting, and immunohistochemistry revealed four connexin isotypes, cx26, cx30, cx31, and cx43, in the cochlea and three, cx26, cx30, and cx43, in the vestibular organs...
  38. Zhang J, Nicholson B. Sequence and tissue distribution of a second protein of hepatic gap junctions, Cx26, as deduced from its cDNA. J Cell Biol. 1989;109:3391-401 pubmed
    ..tertiary structure confirm that this protein forms part of the connexin family and is consequently referred to as Cx26. Consistent with observations on Cx43 (Beyer, E. C., D. L. Paul, and D. A. Goodenough. 1987. J. Cell Biol...
  39. Dufresne J, Finnson K, Gregory M, Cyr D. Expression of multiple connexins in the rat epididymis indicates a complex regulation of gap junctional communication. Am J Physiol Cell Physiol. 2003;284:C33-43 pubmed
    ..Cx30.3, 31.1, and 32 were identified in adult rat epididymis by RT-PCR, whereas Cx26 was present in young rats...
  40. Haefliger J, Tissieres P, Tawadros T, Formenton A, Beny J, Nicod P, et al. Connexins 43 and 26 are differentially increased after rat bladder outlet obstruction. Exp Cell Res. 2002;274:216-25 pubmed
    ..by fluid pressure, we have studied the effects of elevated transmural urine pressure on Connexin43 (Cx43) and Cx26. We chose to focus on these two proteins out of the five connexins (Cx26, 43, 40, 37, and 45) which we found by RT-..
  41. Sunagawa M, Wolf Johnston A, Nomiya M, Sawada N, Andersson K, Hisamitsu T, et al. Urinary bladder mucosal responses to ischemia. World J Urol. 2015;33:275-80 pubmed publisher
    ..Immunocytochemistry was used to examine distribution of LP-vimentin-immunoreactive (IR) cells and connexins (Cx26; Cx43), and western immunoblotting or ELISA for proteins involved in UT barrier and sensory functions...
  42. de Zwart Storm E, Hamm H, Stoevesandt J, Steijlen P, Martin P, van Geel M, et al. A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. J Med Genet. 2008;45:161-6 pubmed
    ..One of the skin expressed gap junction genes is GJB2, which codes for connexin 26 and is associated with a wide variety of keratinisation disorders...
  43. Kojima T, Yamamoto M, Tobioka H, Mizuguchi T, Mitaka T, Mochizuki Y. Changes in cellular distribution of connexins 32 and 26 during formation of gap junctions in primary cultures of rat hepatocytes. Exp Cell Res. 1996;223:314-26 pubmed
    In the adult rat hepatocyte, gap junction proteins consist of connexin 32 (Cx32) and connexin 26 (Cx26). Previously, we reported that both Cx32 and Cx26 were markedly induced and maintained in primary cultures of adult rat hepatocytes...
  44. Locke D, Bian S, Li H, Harris A. Post-translational modifications of connexin26 revealed by mass spectrometry. Biochem J. 2009;424:385-98 pubmed publisher
    Gap junctions play important roles in auditory function and skin biology; mutations in the Cx26 (connexin26) gene are the predominant cause of inherited non-syndromic deafness and cause disfiguring skin disorders...
  45. Iossa S, Chinetti V, Auletta G, Laria C, De Luca M, Rienzo M, et al. New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma. Am J Med Genet A. 2009;149A:685-8 pubmed publisher
    The GJB2 gene located on chromosome 13q12 and encoding the connexin 26 (Cx26) protein, a transmembrane protein involved in cell-cell attachment of almost all tissues, including the skin, causes autosomal recessive and sometimes dominant ..