| |
---|---|
Accession Number: | P29033 |
Protein Name: | Cx26 aka Gap junction beta-2 protein |
Length: | 226 |
Molecular Weight: | 26215.00 |
Species: | Homo sapiens (Human) [9606] |
Number of TMSs: | 4 |
Location1 / Topology2 / Orientation3: | Cell membrane1 / Multi-pass membrane protein2 |
Substrate | cAMP, cGMP, Inositol phosphates, small molecules |
Cross database links:
Genevestigator: | P29033 |
---|---|
eggNOG: | prNOG16027 |
RefSeq: | NP_003995.2 |
Entrez Gene ID: | 2706 |
Pfam: | PF00029 PF10582 |
OMIM: |
121011 gene 124500 phenotype 148210 phenotype 148350 phenotype 149200 phenotype 220290 phenotype 601544 phenotype 602540 phenotype |
KEGG: | hsa:2706 |
Gene Ontology
GO:0005922
C:connexon complex
GO:0005793
C:ER-Golgi intermediate compartment
GO:0000139
C:Golgi membrane
GO:0016021
C:integral to membrane
GO:0007267
P:cell-cell signaling
GO:0007605
P:sensory perception of sound
GO:0006810
P:transport
| |
References (44)[1] “Transcriptional downregulation of gap-junction proteins blocks junctional communication in human mammary tumor cell lines.” Lee S.W.et.al. 1324944 [2] “Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.” Hamelmann C.et.al. 11439000 [3] “Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants.” Gasmelseed N.M.A.et.al. 14722929 [4] “GJB2 mutations: passage through Iran.” Najmabadi H.et.al. 15666300 [5] “The DNA sequence and analysis of human chromosome 13.” Dunham A.et.al. 15057823 [6] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).” The MGC Project Teamet.al. 15489334 [7] “A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.” del Castillo F.J.et.al. 15994881 [8] “Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.” Kelsell D.P.et.al. 9139825 [9] “Connexin mutations and hearing loss.” Scott D.A.et.al. 9422505 [10] “Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.” Carrasquillo M.M.et.al. 9328482 [11] “Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.” Denoyelle F.et.al. 9336442 [12] “Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.” Kelley P.M.et.al. 9529365 [13] “Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.” Richard G.et.al. 9856479 [14] “Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.” Scott D.A.et.al. 9600457 [15] “Connexin 26 gene linked to a dominant deafness.” Denoyelle F.et.al. 9620796 [16] “Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa.” Brobby G.W.et.al. 9471561 [17] “A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.” Maestrini E.et.al. 10369869 [18] “Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population.” Kudo T.et.al. 10607953 [19] “Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.” Kelsell D.P.et.al. 10757647 [20] “High frequency hearing loss correlated with mutations in the GJB2 gene.” Wilcox S.A.et.al. 10830906 [21] “A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350).” Heathcote K.et.al. 10633135 [22] “A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss.” Morle L.et.al. 10807696 [23] “Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.” Loffler J.et.al. 11313763 [24] “Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.” Richard G.et.al. 11912510 [25] “Exploring the clinical and epidemiological complexity of GJB2-linked deafness.” Gualandi F.et.al. 12239718 [26] “HID and KID syndromes are associated with the same connexin 26 mutation.” van Geel M.et.al. 12072059 [27] “Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss.” Bason L.et.al. 12121355 [28] “The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family.” Uyguner O.et.al. 12372058 [29] “De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome.” Alvarez A.et.al. 12548749 [30] “Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome.” Yotsumoto S.et.al. 12752120 [31] “A novel dominant missense mutation -- D179N -- in the GJB2 gene (connexin 26) associated with non-syndromic hearing loss.” Primignani P.et.al. 12786758 [32] “GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.” Ohtsuka A.et.al. 12560944 [33] “Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.” Marziano N.K.et.al. 12668604 [34] “Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India.” Ramshankar M.et.al. 12746422 [35] “Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.” Richard G.et.al. 15482471 [36] “G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome.” Alexandrino F.et.al. 15952212 [37] “Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss.” Piazza V.et.al. 15996214 [38] “Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness.” Beltramello M.et.al. 15592461 [39] “M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.” Pollak A.et.al. 17935238 [40] “A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.” Matos T.D.et.al. 17660464 [41] “A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.” de Zwart-Storm E.A.et.al. 17993581 [42] “Connexin mutations in Brazilian patients with skin disorders with or without hearing loss.” Alexandrino F.et.al. 19283857 [43] “Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss.” Nemoto-Hasebe I.et.al. 19416251 [44] “Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss.” Choi S.-Y.et.al. 19384972
| |
Structure: | |
[...more] |
External Searches:
|
Analyze:
Predict TMSs (Predict number of transmembrane segments) | ||||
FASTA formatted sequence |
|
1: MDWGTLQTIL GGVNKHSTSI GKIWLTVLFI FRIMILVVAA KEVWGDEQAD FVCNTLQPGC 61: KNVCYDHYFP ISHIRLWALQ LIFVSTPALL VAMHVAYRRH EKKRKFIKGE IKSEFKDIEE 121: IKTQKVRIEG SLWWTYTSSI FFRVIFEAAF MYVFYVMYDG FSMQRLVKCN AWPCPNTVDC 181: FVSRPTEKTV FTVFMIAVSG ICILLNVTEL CYLLIRYCSG KSKKPV