Reviewed,
UniProtKB/Swiss-Prot P29033 (CXB2_HUMAN)
Last modified
June 16, 2009.
Version 111.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
Customize display | text xml rdf/xml gff fasta |
Names and origin
| Protein names | Recommended name: Gap junction beta-2 protein Alternative name(s): Connexin-26 Short name=Cx26 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 226 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. |
| Subunit structure | A connexon is composed of a hexamer of connexins. |
| Subcellular location | Cell membrane; Multi-pass membrane protein. Cell junction › gap junction. |
| Polymorphism | The Thr-34 allele was originally (Ref.10) thought to be a cause of forms of hereditary non-syndromic sensorineural deafness (DFNA3 and DFNB1). |
| Involvement in disease | Defects in GJB2 are the cause of non-syndromic sensorineural deafness autosomal recessive type 1 (DFNB1) [MIM:220290]. DFNB1 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Ref.2 Ref.3 Ref.4 Ref.12 Ref.13 Ref.14 Ref.18 Ref.25 Ref.27 Ref.29 Ref.33 Defects in GJB2 are the cause of non-syndromic sensorineural deafness autosomal dominant type 3A (DFNA3A) [MIM:601544]. Defects in GJB2 are a cause of Vohwinkel syndrome (VS) [MIM:124500]. VS is an autosomal dominant disease characterized by hyperkeratosis, constriction on finger and toes and congenital deafness. Ref.35 Ref.19 Defects in GJB2 are a cause of palmoplantar keratoderma with deafness (PPKDFN) [MIM:148350]. PPKDFN is an autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high-frequency, sensorineural deafness. Ref.35 Ref.15 Ref.21 Ref.23 Ref.30 Defects in GJB2 are a cause of keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210]; an autosomal dominant form of ectodermal dysplasia. Ectodermal dysplasias (EDs) constitute a heterogeneous group of developmental disorders affecting tissues of ectodermal origin. EDs are characterized by abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. KID syndrome is characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. Clinical features include deafness, ichthyosis, photobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails. Defects in GJB2 are the cause of Bart-Pumphrey syndrome (BPS) [MIM:149200]. BPS is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability. Ref.37 Ref.38 Defects in GJB2 are the cause of ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:602540]. HID syndrome is an autosomal-dominant inherited keratinizing disorder characterized by sensorineural deafness and spiky hyperkeratosis affecting the entire skin. HID syndrome is considered to differ from the similar KID syndrome in the extent and time of occurrence of skin symptoms and the severity of the associated keratitis. |
| Sequence similarities | Belongs to the connexin family. Beta-type (group I) subfamily. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Hearing |
| Cellular component | Cell junction Cell membrane Gap junction Membrane |
| Coding sequence diversity | Polymorphism |
| Disease | Deafness Disease mutation Ectodermal dysplasia Ichthyosis Non-syndromic deafness Palmoplantar keratoderma |
| Domain | Transmembrane |
| Technical term | 3D-structure |
| Gene Ontology (GO) | |
| Biological process | cell-cell signaling Ref.1 Traceable author statement. Source: ProtInc sensory perception of sound Ref.10Traceable author statement. Source: ProtInc transport Ref.1Traceable author statement. Source: ProtInc |
| Cellular component | Golgi membrane Inferred from Experiment. Source: Reactome connexon complex Ref.1Traceable author statement. Source: ProtInc integral to membraneInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 226 | 226 | Gap junction beta-2 protein | PRO_0000057855 | |||||
Regions | |||||||||
| Topological domain | 1 – 20 | 20 | Cytoplasmic Potential | ||||||
| Transmembrane | 21 – 40 | 20 | Potential | ||||||
| Topological domain | 41 – 75 | 35 | Extracellular Potential | ||||||
| Transmembrane | 76 – 98 | 23 | Potential | ||||||
| Topological domain | 99 – 131 | 33 | Cytoplasmic Potential | ||||||
| Transmembrane | 132 – 154 | 23 | Potential | ||||||
| Topological domain | 155 – 192 | 38 | Extracellular Potential | ||||||
| Transmembrane | 193 – 215 | 23 | Potential | ||||||
| Topological domain | 216 – 226 | 11 | Cytoplasmic Potential | ||||||
Natural variations | |||||||||
| Natural variant | 12 | 1 | G → R in KID syndrome. | VAR_015453 | |||||
| Natural variant | 17 | 1 | S → F in KID syndrome. dbSNP rs28929485. | VAR_015454 | |||||
| Natural variant | 27 | 1 | V → I: dbSNP rs2274084. Ref.4 Ref.14 Ref.9 Ref.20 Ref.34 Ref.36 | VAR_002137 | |||||
| Natural variant | 32 | 1 | R → H in DFNB1. Ref.4 | VAR_023605 | |||||
| Natural variant | 32 | 1 | R → L Ref.4 Ref.6 | VAR_016839 | |||||
| Natural variant | 34 | 1 | M → T: dbSNP rs35887622. Ref.10 Ref.11 Ref.16 | VAR_002138 | |||||
| Natural variant | 37 | 1 | V → I in DFNB1; was reported first as a polymorphism. Ref.3 Ref.29 Ref.33 | VAR_002139 | |||||
| Natural variant | 44 | 1 | W → C in DFNA3A. | VAR_008709 | |||||
| Natural variant | 44 | 1 | W → S in DFNA3A; does not affect protein trafficking; affects the ability to form functional channels; dominant negative effect. | VAR_032749 | |||||
| Natural variant | 45 | 1 | G → E in deafness. Ref.34 | VAR_015455 | |||||
| Natural variant | 46 – 48 | 3 | DEQ → E May contribute to deafness. | VAR_023606 | |||||
| Natural variant | 50 | 1 | D → N in KID syndrome and HID syndrome. dbSNP rs28931594. | VAR_015456 | |||||
| Natural variant | 50 | 1 | D → Y in KID syndrome. | VAR_015935 | |||||
| Natural variant | 54 | 1 | N → K in BPS. Ref.37 | VAR_032750 | |||||
| Natural variant | 59 | 1 | G → A in PPKDFN; impairs trafficking; localizes intracellularly closed to the nucleus; affects the ability to form functional channels; phenotype can be rescued by coexpression with wild-type protein. Ref.35 Ref.23 | VAR_009965 | |||||
| Natural variant | 59 | 1 | G → S in BPS. Ref.38 | VAR_032751 | |||||
| Natural variant | 66 | 1 | D → H in VS and PPKDFN; impairs trafficking; localizes intracellularly closed to the nucleus; affects the ability to form functional channels; phenotype can be rescued by coexpression with wild-type protein. | VAR_008710 | |||||
| Natural variant | 71 | 1 | I → T in deafness. Ref.34 | VAR_015457 | |||||
| Natural variant | 75 | 1 | R → Q in PPKDFN. Ref.15 Ref.30 | VAR_015936 | |||||
| Natural variant | 75 | 1 | R → W in PPKDFN and DFNA3A; does not affect protein trafficking; affects the ability to form functional channels; dominant negative effect. | VAR_002140 | |||||
| Natural variant | 77 | 1 | W → R in DFNB1. Ref.12 | VAR_002141 | |||||
| Natural variant | 79 | 1 | L → P in DFNB1. Ref.2 | VAR_023607 | |||||
| Natural variant | 80 | 1 | Q → K in DFNB1. Ref.4 | VAR_023608 | |||||
| Natural variant | 83 | 1 | F → L Ref.16 | VAR_002142 | |||||
| Natural variant | 84 | 1 | V → L in DFNB1. Ref.14 | VAR_002143 | |||||
| Natural variant | 86 | 1 | T → R in deafness. Ref.34 | VAR_015458 | |||||
| Natural variant | 90 | 1 | L → P in DFNB1. Ref.25 | VAR_015937 | |||||
| Natural variant | 93 | 1 | M → I in DFNB1. Ref.4 | VAR_023609 | |||||
| Natural variant | 95 | 1 | V → M in DFNB1. Ref.14 | VAR_002144 | |||||
| Natural variant | 111 | 1 | I → T Ref.36 | VAR_015938 | |||||
| Natural variant | 113 | 1 | S → R in DFNB1. Ref.14 | VAR_002145 | |||||
| Natural variant | 114 | 1 | E → G: dbSNP rs2274083. Ref.4 Ref.9 Ref.20 Ref.34 Ref.36 | VAR_009966 | |||||
| Natural variant | 120 | 1 | Missing in DFNB1. Ref.4 | VAR_023610 | |||||
| Natural variant | 123 | 1 | T → N Ref.34 | VAR_015459 | |||||
| Natural variant | 127 | 1 | R → H Very common polymorphism in India. Ref.3 Ref.4 Ref.36 | VAR_015939 | |||||
| Natural variant | 129 | 1 | E → K in DFNB1. Ref.4 | VAR_023611 | |||||
| Natural variant | 143 | 1 | R → Q in DFNA3A. | VAR_015940 | |||||
| Natural variant | 143 | 1 | R → W in DFNB1. Ref.2 Ref.4 Ref.18 | VAR_015460 | |||||
| Natural variant | 153 | 1 | V → I May contribute to deafness. Ref.3 Ref.4 Ref.36 | VAR_009967 | |||||
| Natural variant | 159 | 1 | D → V in DFNB1. dbSNP rs28931592. Ref.27 | VAR_015941 | |||||
| Natural variant | 160 | 1 | G → S: dbSNP rs34988750. Ref.3 Ref.11 Ref.16 | VAR_002146 | |||||
| Natural variant | 165 | 1 | R → W Ref.36 | VAR_015942 | |||||
| Natural variant | 167 | 1 | V → M May contribute to deafness. Ref.3 | VAR_023612 | |||||
| Natural variant | 168 | 1 | K → R in a patient with congenital erythrokeratodermia; unknown pathological significance. | VAR_057959 | |||||
| Natural variant | 169 | 1 | C → Y | VAR_009968 | |||||
| Natural variant | 178 | 1 | V → A in DFNB1. Ref.2 | VAR_023613 | |||||
| Natural variant | 179 | 1 | D → N in DFNA3A. dbSNP rs28931595. | VAR_032752 | |||||
| Natural variant | 184 | 1 | R → P in DFNB1. Ref.4 Ref.13 | VAR_015943 | |||||
| Natural variant | 184 | 1 | R → Q in DFNA3A. | VAR_023614 | |||||
| Natural variant | 184 | 1 | R → W in DFNB1. | VAR_009969 | |||||
| Natural variant | 191 | 1 | F → L Ref.34 | VAR_015461 | |||||
| Natural variant | 197 | 1 | A → S in DFNA3A. | VAR_023615 | |||||
| Natural variant | 202 | 1 | C → F in DFNA3A. | VAR_015944 | |||||
| Natural variant | 203 | 1 | I → K in DFNB1. Ref.2 | VAR_023616 | |||||
| Natural variant | 203 | 1 | I → T Ref.2 Ref.20 Ref.34 | VAR_009970 | |||||
| Natural variant | 214 | 1 | L → P in DFNB1. Ref.2 | VAR_023617 | |||||
Experimental info | |||||||||
| Sequence conflict | 86 | 1 | T → S in AAD21314. Ref.1 | ||||||
| Sequence conflict | 112 | 1 | K → N in AAY25170. Ref.4 | ||||||
Sequences
| ||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "Transcriptional downregulation of gap-junction proteins blocks junctional communication in human mammary tumor cell lines." Lee S.W., Tomasetto C., Paul D., Keyomarsi K., Sager R. J. Cell Biol. 118:1213-1221(1992) [PubMed: 1324944] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [2] | "Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana." Hamelmann C., Amedofu G.K., Albrecht K., Muntau B., Gelhaus A., Brobby G.W., Horstmann R.D. Hum. Mutat. 18:84-85(2001) [PubMed: 11439000] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS DFNB1 PRO-79; TRP-143; ALA-178; LYS-203 AND PRO-214, VARIANTS DFNA3A GLN-184 AND SER-197. Tissue: Blood. |
| [3] | "Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants." Gasmelseed N.M.A., Schmidt M., Magzoub M.M.A., Macharia M., Elmustafa O.M., Ototo B., Winkler E., Ruge G., Horstmann R.D., Meyer C.G. Hum. Mutat. 23:206-207(2004) [PubMed: 14722929] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT DFNB1 ILE-37, VARIANTS 46-ASP--GLN-48 DELINS GLU; HIS-127; ILE-153; SER-160 AND MET-167. |
| [4] | "GJB2 mutations: passage through Iran." Najmabadi H., Nishimura C., Kahrizi K., Riazalhosseini Y., Malekpour M., Daneshi A., Farhadi M., Mohseni M., Mahdieh N., Ebrahimi A., Bazazzadegan N., Naghavi A., Avenarius M., Arzhangi S., Smith R.J.H. Am. J. Med. Genet. A 133:132-137(2005) [PubMed: 15666300] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS DFNB1 HIS-32; LYS-80; ILE-93; GLU-120 DEL; LYS-129; TRP-143 AND PRO-184, VARIANTS ILE-27; GLY-114; HIS-127 AND ILE-153. |
| [5] | "A polymorphism in the genomic sequence of the coding region of connexin 26 in the South Indian population." Joseph A.Y., Rasool T.J. Submitted (FEB-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [6] | "A novel mutation in the connexin 26 gene in the South Indian population." Joseph A.Y., Rasool T.J. Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT LEU-32. |
| [7] | "Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. |
| [8] | "The DNA sequence and analysis of human chromosome 13." Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. Ross M.T.Nature 428:522-528(2004) [PubMed: 15057823] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [9] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS ILE-27 AND GLY-114. Tissue: Colon. |
| [10] | "Connexin 26 mutations in hereditary non-syndromic sensorineural deafness." Kelsell D.P., Dunlop J., Stevens H.P., Lench N.J., Liang J.N., Parry G., Mueller R.F., Leigh I.M. Nature 387:80-83(1997) [PubMed: 9139825] [Abstract] Cited for: VARIANT THR-34. |
| [11] | "Connexin mutations and hearing loss." Scott D.A., Kraft M.L., Tone M.M., Sheffield V.C., Smith R.J.H. Nature 391:32-32(1998) [PubMed: 9422505] [Abstract] Cited for: SHOWS THAT VARIANT THR-34 IS NOT A CAUSE OF DEAFNESS. |
| [12] | "Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations." Carrasquillo M.M., Zlotogora J., Barges S., Chakravarti A. Hum. Mol. Genet. 6:2163-2172(1997) [PubMed: 9328482] [Abstract] Cited for: VARIANT DFNB1 ARG-77. |
| [13] | "Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene." Denoyelle F., Weil D., Maw M.A., Wilcox S.A., Lench N.J., Allen-Powell D.R., Osborn A.H., Dahl H.-H.M., Middleton A., Houseman M.J., Dode C., Marlin S., Boulila-ElGaied A., Grati M., Ayadi H., BenArab S., Bitoun P., Lina-Granade G. Petit C.Hum. Mol. Genet. 6:2173-2177(1997) [PubMed: 9336442] [Abstract] Cited for: VARIANT DFNB1 PRO-184. |
| [14] | "Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss." Kelley P.M., Harris D.J., Comer B.C., Askew J.W., Fowler T., Smith S.D., Kimberling W.J. Am. J. Hum. Genet. 62:792-799(1998) [PubMed: 9529365] [Abstract] Cited for: VARIANTS DFNB1 LEU-84; MET-95 AND ARG-113, VARIANTS ILE-27 AND ILE-37. |
| [15] | "Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma." Richard G., White T.W., Smith L.E., Bailey R.A., Compton J.G., Paul D.L., Bale S.J. Hum. Genet. 103:393-399(1998) [PubMed: 9856479] [Abstract] Cited for: VARIANT PPKDFN TRP-75. |
| [16] | "Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss." Scott D.A., Kraft M.L., Carmi R., Ramesh A., Elbedour K., Yairi Y., Srikumari Srisailapathy C.R., Rosengren S.S., Markham A.F., Mueller R.F., Lench N.J., van Camp G., Smith R.J.H., Sheffield V.C. Hum. Mutat. 11:387-394(1998) [PubMed: 9600457] [Abstract] Cited for: VARIANTS THR-34; LEU-83 AND SER-160. |
| [17] | "Connexin 26 gene linked to a dominant deafness." Denoyelle F., Lina-Granade G., Plauchu H., Bruzzone R., Chaib H., Levi-Acobas F., Weil D., Petit C. Nature 393:319-320(1998) [PubMed: 9620796] [Abstract] Cited for: VARIANT DFNA3A CYS-44. |
| [18] | "Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa." Brobby G.W., Muller-Myhsok B., Horstmann R.D. N. Engl. J. Med. 338:548-550(1998) [PubMed: 9471561] [Abstract] Cited for: VARIANT DFNB1 TRP-143. |
| [19] | "A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families." Maestrini E., Korge B.P., Ocana-Sierra J., Calzolari E., Cambiaghi S., Scudder P.M., Hovnanian A., Monaco A.P., Munro C.S. Hum. Mol. Genet. 8:1237-1243(1999) [PubMed: 10369869] [Abstract] Cited for: VARIANT VS HIS-66. |
| [20] | "Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population." Kudo T., Ikeda K., Kure S., Matsubara Y., Oshima T., Watanabe K., Kawase T., Narisawa K., Takasaka T. Am. J. Med. Genet. 90:141-145(2000) [PubMed: 10607953] [Abstract] Cited for: VARIANTS ILE-27; ILE-37; GLY-114 AND THR-203. |
| [21] | "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. 8:141-144(2000) [PubMed: 10757647] [Abstract] Cited for: VARIANT PPKDFN HIS-66. |
| [22] | "High frequency hearing loss correlated with mutations in the GJB2 gene." Wilcox S.A., Saunders K., Osborn A.H., Arnold A., Wunderlich J., Kelly T., Collins V., Wilcox L.J., McKinlay Gardner R.J., Kamarinos M., Cone-Wesson B., Williamson R., Dahl H.-H.M. Hum. Genet. 106:399-405(2000) [PubMed: 10830906] [Abstract] Cited for: VARIANTS DFNB1 ILE-37; PRO-90 AND TRP-184. |
| [23] | "A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)." Heathcote K., Syrris P., Carter N.D., Patton M.A. J. Med. Genet. 37:50-51(2000) [PubMed: 10633135] [Abstract] Cited for: VARIANT PPKDFN ALA-59. |
| [24] | "A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss." Morle L., Bozon M., Alloisio N., Latour P., Vandenberghe A., Plauchu H., Collet L., Edery P., Godet J., Lina-Granade G. J. Med. Genet. 37:368-370(2000) [PubMed: 10807696] [Abstract] Cited for: VARIANT DFNA3A PHE-202. |
| [25] | "Sensorineural hearing loss and the incidence of Cx26 mutations in Austria." Loffler J., Nekahm D., Hirst-Stadlmann A., Gunther B., Menzel H.J., Utermann G., Janecke A.R. Eur. J. Hum. Genet. 9:226-230(2001) [PubMed: 11313763] [Abstract] Cited for: VARIANT DFNB1 PRO-90, VARIANT DFNA3A GLN-143. |
| [26] | "Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome." Richard G., Rouan F., Willoughby C.E., Brown N., Chung P., Ryynanen M., Jabs E.W., Bale S.J., DiGiovanna J.J., Uitto J., Russell L. Am. J. Hum. Genet. 70:1341-1348(2002) [PubMed: 11912510] [Abstract] Cited for: VARIANTS KID SYNDROME ARG-12; PHE-17 AND ASN-50. |
| [27] | "Exploring the clinical and epidemiological complexity of GJB2-linked deafness." Gualandi F., Ravani A., Berto A., Sensi A., Trabanelli C., Falciano F., Trevisi P., Mazzoli M., Tibiletti M.G., Cristofari E., Burdo S., Ferlini A., Martini A., Calzolari E. Am. J. Med. Genet. 112:38-45(2002) [PubMed: 12239718] [Abstract] Cited for: VARIANT DFNB1 VAL-159. |
| [28] | "HID and KID syndromes are associated with the same connexin 26 mutation." van Geel M., van Steensel M.A.M., Kuester W., Hennies H.C., Happle R., Steijlen P.M., Koenig A. Br. J. Dermatol. 146:938-942(2002) [PubMed: 12072059] [Abstract] Cited for: VARIANT HID SYNDROME ASN-50. |
| [29] | "Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss." Bason L., Dudley T., Lewis K., Shah U., Potsic W., Ferraris A., Fortina P., Rappaport E., Krantz I.D. Clin. Genet. 61:459-464(2002) [PubMed: 12121355] [Abstract] Cited for: VARIANT DFNB1 ILE-37. |
| [30] | "The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family." Uyguner O., Tukel T., Baykal C., Eris H., Emiroglu M., Hafiz G., Ghanbari A., Baserer N., Yuksel-Apak M., Wollnik B. Clin. Genet. 62:306-309(2002) [PubMed: 12372058] [Abstract] Cited for: VARIANT PPKDFN GLN-75. |
| [31] | "De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome." Alvarez A., Del Castillo I., Pera A., Villamar M., Moreno-Pelayo M.A., Moreno F., Moreno R., Tapia M.C. Am. J. Med. Genet. A 117:89-91(2003) [PubMed: 12548749] [Abstract] Cited for: VARIANT KID SYNDROME ASN-50. |
| [32] | "Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome." Yotsumoto S., Hashiguchi T., Chen X., Ohtake N., Tomitaka A., Akamatsu H., Matsunaga K., Shiraishi S., Miura H., Adachi J., Kanzaki T. Br. J. Dermatol. 148:649-653(2003) [PubMed: 12752120] [Abstract] Cited for: VARIANTS KID SYNDROME ASN-50 AND TYR-50. |
| [33] | "A novel dominant missense mutation -- D179N -- in the GJB2 gene (connexin 26) associated with non-syndromic hearing loss." Primignani P., Castorina P., Sironi F., Curcio C., Ambrosetti U., Coviello D.A. Clin. Genet. 63:516-521(2003) [PubMed: 12786758] [Abstract] Cited for: VARIANT DFNA3A ASN-179, VARIANT DFNB1 ILE-37. |
| [34] | "GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation." Ohtsuka A., Yuge I., Kimura S., Namba A., Abe S., Van Laer L., Van Camp G., Usami S. Hum. Genet. 112:329-333(2003) [PubMed: 12560944] [Abstract] Cited for: VARIANTS DEAFNESS GLU-45; THR-71; ARG-86 AND TRP-143, VARIANTS ILE-27; ILE-37; GLY-114; ASN-123; LEU-191 AND THR-203. |
| [35] | "Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30." Marziano N.K., Casalotti S.O., Portelli A.E., Becker D.L., Forge A. Hum. Mol. Genet. 12:805-812(2003) [PubMed: 12668604] [Abstract] Cited for: CHARACTERIZATION OF VARIANTS DFNA3A SER-44 AND TRP-75, CHARACTERIZATION OF VARIANT PPKDFN ALA-59, CHARACTERIZATION OF VARIANT VS HIS-66. |
| [36] | "Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India." Ramshankar M., Girirajan S., Dagan O., Ravi Shankar H.M., Jalvi R., Rangasayee R., Avraham K.B., Anand A. J. Med. Genet. 40:E68-E68(2003) [PubMed: 12746422] [Abstract] Cited for: VARIANTS ILE-27; THR-111; GLY-114; HIS-127; ILE-153 AND TRP-165. |
| [37] | "Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2." Richard G., Brown N., Ishida-Yamamoto A., Krol A. J. Invest. Dermatol. 123:856-863(2004) [PubMed: 15482471] [Abstract] Cited for: VARIANT BPS LYS-54. |
| [38] | "G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome." Alexandrino F., Sartorato E.L., Marques-de-Faria A.P., Steiner C.E. Am. J. Med. Genet. A 136:282-284(2005) [PubMed: 15952212] [Abstract] Cited for: VARIANT BPS SER-59. |
| [39] | "Connexin mutations in Brazilian patients with skin disorders with or without hearing loss." Alexandrino F., de Oliveira C.A., Magalhaes R.F., Florence M.E., de Souza E.M., Sartorato E.L. Am. J. Med. Genet. A 149:681-684(2009) [PubMed: 19283857] [Abstract] Cited for: VARIANT ARG-168. |
| [40] | "Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss." Nemoto-Hasebe I., Akiyama M., Kudo S., Ishiko A., Tanaka A., Arita K., Shimizu H. Br. J. Dermatol. 0:0-0(2009) [PubMed: 19416251] [Abstract] Cited for: VARIANT ILE-27. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M86849 mRNA. Translation: AAD21314.1. AF281280 Genomic DNA. Translation: AAF91440.1. AF479776 Genomic DNA. Translation: AAL87696.1. AY255853 Genomic DNA. Translation: AAP34178.1. AY275646 Genomic DNA. Translation: AAQ94940.1. AY275647 Genomic DNA. Translation: AAQ94941.1. AY275648 Genomic DNA. Translation: AAQ94942.1. AY275649 Genomic DNA. Translation: AAQ94943.1. AY275650 Genomic DNA. Translation: AAQ94944.1. AY275651 Genomic DNA. Translation: AAQ94945.1. AY275652 Genomic DNA. Translation: AAQ94946.1. AY275653 Genomic DNA. Translation: AAQ94947.1. AY275654 Genomic DNA. Translation: AAQ94948.1. AY280971 Genomic DNA. Translation: AAQ17213.1. AY953438 Genomic DNA. Translation: AAY25169.1. AY953441 Genomic DNA. Translation: AAY25170.1. BT006732 mRNA. Translation: AAP35378.1. AL138688 Genomic DNA. Translation: CAC16959.1. BC017048 mRNA. Translation: AAH17048.1. BC071703 mRNA. Translation: AAH71703.1. | |||||||||||||||||||
| IPI | IPI00019868. | ||||||||||||||||||
| PIR | A43424. | ||||||||||||||||||
| RefSeq | NP_003995.2. | ||||||||||||||||||
| UniGene | Hs.524894 Hs.714494 | ||||||||||||||||||
3D structure databases | |||||||||||||||||||
| |||||||||||||||||||
| ModBase | Search... | ||||||||||||||||||
Protein family/group databases | |||||||||||||||||||
| TCDB | 1.A.24.1.3. gap junction-forming connexin family. | ||||||||||||||||||
Proteomic databases | |||||||||||||||||||
| PRIDE | P29033. | ||||||||||||||||||
Genome annotation databases | |||||||||||||||||||
| Ensembl | ENSG00000165474. Homo sapiens. [Contig view] | ||||||||||||||||||
| GeneID | 2706. | ||||||||||||||||||
| KEGG | hsa:2706. | ||||||||||||||||||
Organism-specific databases | |||||||||||||||||||
| GeneCards | GC13M019659. | ||||||||||||||||||
| H-InvDB | HIX0011157. | ||||||||||||||||||
| HGNC | HGNC:4284. GJB2. | ||||||||||||||||||
| HPA | CAB013093. | ||||||||||||||||||
| MIM | 121011. gene. 124500. phenotype. 148210. phenotype. 148350. phenotype. 149200. phenotype. 220290. phenotype. 601544. phenotype. 602540. phenotype. | ||||||||||||||||||
| Orphanet | 494. Keratoderma hereditarium mutilans. 2202. Keratoderma palmoplantar - deafness. 477. KID/HID syndrome. 2698. Knuckle pods - leuconychia - sensorineural deafness. 87884. Nonsyndromic genetic deafness. | ||||||||||||||||||
| PharmGKB | PA28695. | ||||||||||||||||||
| GenAtlas | Search... | ||||||||||||||||||
Phylogenomic databases | |||||||||||||||||||
| HOVERGEN | P29033. | ||||||||||||||||||
| OMA | P29033. MYVFYIM. | ||||||||||||||||||
Enzyme and pathway databases | |||||||||||||||||||
| Reactome | REACT_9440. Synthesis of Cx26. REACT_9480. Gap junction trafficking and regulation. | ||||||||||||||||||
Gene expression databases | |||||||||||||||||||
| ArrayExpress | P29033. | ||||||||||||||||||
| Bgee | P29033. | ||||||||||||||||||
| GermOnline | ENSG00000165474. Homo sapiens. | ||||||||||||||||||
Family and domain databases | |||||||||||||||||||
| InterPro | IPR000500. Connexin. IPR002268. Connexin26. IPR019570. Connexin_CCC. IPR017990. Connexin_CS. IPR013092. Connexin_N. IPR017991. connexins_rgn. [Graphical view] | ||||||||||||||||||
| PANTHER | PTHR11984. Connexin. 1 hit. PTHR11984:SF24. Connexin26. 1 hit. | ||||||||||||||||||
| Pfam | PF00029. Connexin. 1 hit. PF10582. Connexin_CCC. 1 hit. [Graphical view] | ||||||||||||||||||
| PRINTS | PR00206. CONNEXIN. PR01139. CONNEXINB2. | ||||||||||||||||||
| SMART | SM00037. CNX. 1 hit. [Graphical view] | ||||||||||||||||||
| PROSITE | PS00407. CONNEXINS_1. 1 hit. PS00408. CONNEXINS_2. 1 hit. [Graphical view] | ||||||||||||||||||
| ProtoNet | Search... | ||||||||||||||||||
Other Resources | |||||||||||||||||||
| NextBio | 10698. | ||||||||||||||||||
| SOURCE | Search... | ||||||||||||||||||
Entry information
| Entry name | CXB2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P29033 Secondary accession number(s): Q508A5 Q9NNY4 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 13 Human chromosome 13: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with


