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Gene Review

GJB3  -  gap junction protein, beta 3, 31kDa

Homo sapiens

Synonyms: CX31, Connexin-31, Cx31, DFNA2, DFNA2B, ...
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Disease relevance of GJB3

  • These findings suggest that mutations in GJB3 may be responsible for bilateral high-frequency hearing impairment [1].
  • Mutation analysis revealed that a missense mutation and a nonsense mutation of GJB3 were associated with high-frequency hearing loss in two families [1].
  • Peripheral neuropathy is the third phenotypic alteration linked to GJB3 mutations, which enlarges the list of genes that cause this group of heterogeneous disorders [2].
  • Erythrokeratoderma variabilis, characterized by migrating erythema and fixed keratotic plaques, is a rare congenital disorder which has recently been connected with connexin (Cx)30.3 or Cx31 gene mutations [3].
  • The skin disease erythrokeratoderma variabilis (EKV) has been shown to be associated with mutations in GJB3 and GJB4 encoding connexin (Cx)31 and Cx30.3, respectively [4].

High impact information on GJB3


Biological context of GJB3

  • Affected individuals of two unrelated families harbored point mutations leading to amino acid substitution F137L, which was also reported in GJB3, yet the extent and severity of hyperkeratosis was milder compared to the corresponding mutation in GJB3 [7].
  • All families with EKV show mapping to chromosome 1p34-p35, and mutations in the gene for connexin 31 (Cx31) have been reported in some but not all families [8].
  • The expression of GJB3 and KCNQ4 in the inner ear and their functions suggest that both DFNA2 genes may play a role in K+ homeostasis [9].
  • In conclusion, our results demonstrate genetic heterogeneity in erythrokeratodermia variabilis, and emphasize that intercellular communication mediated by both Cx31 and Cx30.3 is crucial for epidermal differentiation [7].
  • Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations [10].

Anatomical context of GJB3


Associations of GJB3 with chemical compounds

  • 4,6 Diamidino-2-phenylindole (DAPI) dihydrochloride shows less transfer among Cx31 or Cx43 transfectants [6].
  • We characterized and compared a pathogenic mutation resulting in replacement of amino acid glycine 12 with arginine (G12R) with wild-type hCx31 protein [13].
  • Immunoblotting analysis showed that 12 mutated Cx31s, like WT-Cx31, are able to form the Triton X-100 insoluble complex; however, the quantity of Triton X-100 insoluble complex in the transfected HeLa cells varied among different Cx31 mutants [14].

Other interactions of GJB3


Analytical, diagnostic and therapeutic context of GJB3


  1. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Xia, J.H., Liu, C.Y., Tang, B.S., Pan, Q., Huang, L., Dai, H.P., Zhang, B.R., Xie, W., Hu, D.X., Zheng, D., Shi, X.L., Wang, D.A., Xia, K., Yu, K.P., Liao, X.D., Feng, Y., Yang, Y.F., Xiao, J.Y., Xie, D.H., Huang, J.Z. Nat. Genet. (1998) [Pubmed]
  2. Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. López-Bigas, N., Olivé, M., Rabionet, R., Ben-David, O., Martínez-Matos, J.A., Bravo, O., Banchs, I., Volpini, V., Gasparini, P., Avraham, K.B., Ferrer, I., Arbonés, M.L., Estivill, X. Hum. Mol. Genet. (2001) [Pubmed]
  3. Erythrokeratoderma variabilis without connexin 31 or connexin 30.3 gene mutation: immunohistological, ultrastructural and genetic studies. Arita, K., Akiyama, M., Tsuji, Y., Onozuka, T., Shimizu, H. Acta Derm. Venereol. (2003) [Pubmed]
  4. Clinical and genetic heterogeneity of erythrokeratoderma variabilis. Common, J.E., O'Toole, E.A., Leigh, I.M., Thomas, A., Griffiths, W.A., Venning, V., Grabczynska, S., Peris, Z., Kansky, A., Kelsell, D.P. J. Invest. Dermatol. (2005) [Pubmed]
  5. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Richard, G., Smith, L.E., Bailey, R.A., Itin, P., Hohl, D., Epstein, E.H., DiGiovanna, J.J., Compton, J.G., Bale, S.J. Nat. Genet. (1998) [Pubmed]
  6. Specific permeability and selective formation of gap junction channels in connexin-transfected HeLa cells. Elfgang, C., Eckert, R., Lichtenberg-Fraté, H., Butterweck, A., Traub, O., Klein, R.A., Hülser, D.F., Willecke, K. J. Cell Biol. (1995) [Pubmed]
  7. Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. Richard, G., Brown, N., Rouan, F., Van der Schroeff, J.G., Bijlsma, E., Eichenfield, L.F., Sybert, V.P., Greer, K.E., Hogan, P., Campanelli, C., Compton, J.G., Bale, S.J., DiGiovanna, J.J., Uitto, J. J. Invest. Dermatol. (2003) [Pubmed]
  8. Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. Macari, F., Landau, M., Cousin, P., Mevorah, B., Brenner, S., Panizzon, R., Schorderet, D.F., Hohl, D., Huber, M. Am. J. Hum. Genet. (2000) [Pubmed]
  9. The DFNA2 locus for hearing impairment: two genes regulating K+ ion recycling in the inner ear. Van Hauwe, P., Coucke, P., Van Camp, G. British journal of audiology. (1999) [Pubmed]
  10. Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations. Di, W.L., Monypenny, J., Common, J.E., Kennedy, C.T., Holland, K.A., Leigh, I.M., Rugg, E.L., Zicha, D., Kelsell, D.P. Hum. Mol. Genet. (2002) [Pubmed]
  11. Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis. Plantard, L., Huber, M., Macari, F., Meda, P., Hohl, D. Hum. Mol. Genet. (2003) [Pubmed]
  12. A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein. Gottfried, I., Landau, M., Glaser, F., Di, W.L., Ophir, J., Mevorah, B., Ben-Tal, N., Kelsell, D.P., Avraham, K.B. Hum. Mol. Genet. (2002) [Pubmed]
  13. Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells. Diestel, S., Richard, G., Döring, B., Traub, O. Biochem. Biophys. Res. Commun. (2002) [Pubmed]
  14. Intracellular distribution, assembly and effect of disease-associated connexin 31 mutants in HeLa cells. He, L.Q., Liu, Y., Cai, F., Tan, Z.P., Pan, Q., Liang, D.S., Long, Z.G., Wu, L.Q., Huang, L.Q., Dai, H.P., Xia, K., Xia, J.H., Zhang, Z.H. Acta Biochim. Biophys. Sin. (Shanghai) (2005) [Pubmed]
  15. Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. Kelsell, D.P., Wilgoss, A.L., Richard, G., Stevens, H.P., Munro, C.S., Leigh, I.M. Eur. J. Hum. Genet. (2000) [Pubmed]
  16. K+ cycling and the endocochlear potential. Wangemann, P. Hear. Res. (2002) [Pubmed]
  17. Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro. Rouan, F., Lo, C.W., Fertala, A., Wahl, M., Jost, M., Rodeck, U., Uitto, J., Richard, G. Exp. Dermatol. (2003) [Pubmed]
  18. Human gap junction protein connexin31: molecular cloning and expression analysis. Wenzel, K., Manthey, D., Willecke, K., Grzeschik, K.H., Traub, O. Biochem. Biophys. Res. Commun. (1998) [Pubmed]
  19. Cx31 is assembled and trafficked to cell surface by ER-Golgi pathway and degraded by proteasomal or lysosomal pathways. He, L.Q., Cai, F., Liu, Y., Liu, M.J., Tan, Z.P., Pan, Q., Fang, F.Y., Liang, d.e. .S., Wu, L.Q., Long, Z.G., Dai, H.P., Xia, K., Xia, J.H., Zhang, Z.H. Cell Res. (2005) [Pubmed]
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