GJB2

From Wikipedia, the free encyclopedia
Jump to: navigation, search
GJB2
Protein GJB2 PDB 1XIR.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases GJB2, CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK, gap junction protein beta 2
External IDs MGI: 95720 HomoloGene: 2975 GeneCards: GJB2
Gene location (Human)
Chromosome 13 (human)
Chr. Chromosome 13 (human)[1]
Chromosome 13 (human)
Genomic location for GJB2
Genomic location for GJB2
Band 13q12.11 Start 20,187,470 bp[1]
End 20,192,898 bp[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004004

NM_008125

RefSeq (protein)

NP_003995

NP_032151

Location (UCSC) Chr 13: 20.19 – 20.19 Mb Chr 13: 57.1 – 57.1 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Gap junction beta-2 protein (GJB2), also known as connexin 26 (Cx26) — is a protein that in humans is encoded by the GJB2 gene. Defects in this gene lead to the most common form of congenital deafness in developed countries, called DFNB1 (also known as connexin 26 deafness or GJB2-related deafness).[5]

Function[edit]

Gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels. Proteins, called connexins, purified from fractions of enriched gap junctions from different tissues differ. The connexins are designated by their molecular mass. Another system of nomenclature divides gap junction proteins into two categories, alpha and beta, according to sequence similarities at the nucleotide and amino acid levels. For example, CX43 (MIM 121014) is designated alpha-1 gap junction protein, whereas CX32 (GJB1; MIM 304040) and CX26 (this protein) are called beta-1 and beta-2 gap junction proteins, respectively. This nomenclature emphasizes that CX32 and CX26 are more homologous to each other than either of them is to CX43.[6]

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000165474 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000046352 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Kelsell, D. P.; Dunlop, J.; Stevens, H. P.; Lench, N. J.; Liang, J. N.; Parry, G.; Mueller, R. F.; Leigh, I. M. (1997-05-01). "Connexin 26 mutations in hereditary non-syndromic sensorineural deafness". Nature. 387 (6628): 80–83. doi:10.1038/387080a0. 
  6. ^ "Entrez Gene: GJB2 gap junction protein, beta 2, 26kDa". 

Further reading[edit]

  • Kenneson A, Van Naarden Braun K, Boyle C (2002). "GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.". Genet. Med. 4 (4): 258–74. PMID 12172392. doi:10.1097/00125817-200207000-00004. 
  • Thalmann R, Henzl MT, Killick R, et al. (2003). "Toward an understanding of cochlear homeostasis: the impact of location and the role of OCP1 and OCP2.". Acta Otolaryngol. 123 (2): 203–8. PMID 12701741. doi:10.1080/0036554021000028100. 
  • Yotsumoto S, Hashiguchi T, Chen X, et al. (2003). "Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome.". Br. J. Dermatol. 148 (4): 649–53. PMID 12752120. doi:10.1046/j.1365-2133.2003.05245.x. 
  • Apps SA, Rankin WA, Kurmis AP (2007). "Connexin 26 mutations in autosomal recessive deafness disorders: a review.". International journal of audiology. 46 (2): 75–81. PMID 17365058. doi:10.1080/14992020600582190. 
  • Welch KO, Marin RS, Pandya A, Arnos KS (2007). "Compound heterozygosity for dominant and recessive GJB2 mutations: effect on phenotype and review of the literature.". Am. J. Med. Genet. A. 143 (14): 1567–73. PMID 17431919. doi:10.1002/ajmg.a.31701. 
  • Harris, A.; Locke, D. (2009). Connexins, A Guide. New York: Springer. p. 574. ISBN 978-1-934115-46-6. 

External links[edit]