UniProtKB - P29033 (CXB2_HUMAN)
Protein
Gap junction beta-2 protein
Gene
GJB2
Organism
Homo sapiens (Human)
Status
Functioni
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.
Caution
The Thr-34 allele was originally thought to be a cause of autosomal dominant and recessive deafness (DFNA3 and DFNB1) (PubMed:9139825). However, Thr-34 effect on hearing is controversial. Some studies supports its pathogenic role (PubMed:17935238 and PubMed:16849369). Others provide evidence of the non-pathogenic nature of this variant (PubMed:9422505 and PubMed:14694360).1 Publication
GO - Molecular functioni
- gap junction channel activity Source: Ensembl
- identical protein binding Source: IntAct
GO - Biological processi
- aging Source: Ensembl
- cell-cell signaling Source: ProtInc
- cellular response to dexamethasone stimulus Source: Ensembl
- cellular response to glucagon stimulus Source: Ensembl
- cellular response to oxidative stress Source: Ensembl
- decidualization Source: Ensembl
- epididymis development Source: Ensembl
- gap junction assembly Source: Reactome
- inner ear development Source: Ensembl
- response to antibiotic Source: Ensembl
- response to estradiol Source: Ensembl
- response to human chorionic gonadotropin Source: Ensembl
- response to ischemia Source: Ensembl
- response to lipopolysaccharide Source: Ensembl
- response to progesterone Source: Ensembl
- response to retinoic acid Source: Ensembl
- sensory perception of sound Source: ProtInc
Keywordsi
| Biological process | Hearing |
Enzyme and pathway databases
| Reactomei | R-HSA-190704 Oligomerization of connexins into connexons R-HSA-190827 Transport of connexins along the secretory pathway R-HSA-190861 Gap junction assembly R-HSA-190872 Transport of connexons to the plasma membrane |
| SIGNORi | P29033 |
Protein family/group databases
| TCDBi | 1.A.24.1.3 the gap junction-forming connexin (connexin) family |
Names & Taxonomyi
| Protein namesi | Recommended name: Gap junction beta-2 proteinAlternative name(s): Connexin-26 Short name: Cx26 |
| Gene namesi | Name:GJB2 |
| Organismi | Homo sapiens (Human) |
| Taxonomic identifieri | 9606 [NCBI] |
| Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
| Proteomesi |
|
Organism-specific databases
| EuPathDBi | HostDB:ENSG00000165474.5 |
| HGNCi | HGNC:4284 GJB2 |
| MIMi | 121011 gene |
| neXtProti | NX_P29033 |
Subcellular locationi
Topology
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Topological domaini | 1 – 20 | CytoplasmicSequence analysisAdd BLAST | 20 | |
| Transmembranei | 21 – 40 | HelicalSequence analysisAdd BLAST | 20 | |
| Topological domaini | 41 – 75 | ExtracellularSequence analysisAdd BLAST | 35 | |
| Transmembranei | 76 – 98 | HelicalSequence analysisAdd BLAST | 23 | |
| Topological domaini | 99 – 131 | CytoplasmicSequence analysisAdd BLAST | 33 | |
| Transmembranei | 132 – 154 | HelicalSequence analysisAdd BLAST | 23 | |
| Topological domaini | 155 – 192 | ExtracellularSequence analysisAdd BLAST | 38 | |
| Transmembranei | 193 – 215 | HelicalSequence analysisAdd BLAST | 23 | |
| Topological domaini | 216 – 226 | CytoplasmicSequence analysisAdd BLAST | 11 |
Keywords - Cellular componenti
Cell junction, Cell membrane, Gap junction, MembranePathology & Biotechi
Involvement in diseasei
Deafness, autosomal recessive, 1A (DFNB1A)19 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic 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.
See also OMIM:220290| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_023605 | 32 | R → H in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs111033190EnsemblClinVar. | 1 | |
| Natural variantiVAR_002139 | 37 | V → I in DFNB1A; was reported first as a polymorphism. 9 PublicationsCorresponds to variant dbSNP:rs72474224EnsemblClinVar. | 1 | |
| Natural variantiVAR_002141 | 77 | W → R in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs104894397EnsemblClinVar. | 1 | |
| Natural variantiVAR_023607 | 79 | L → P in DFNB1A. 1 Publication | 1 | |
| Natural variantiVAR_023608 | 80 | Q → K in DFNB1A. 1 Publication | 1 | |
| Natural variantiVAR_002143 | 84 | V → L in DFNB1A; sorted to the plasma membrane normally and forms gap junctions that were morphologically and electrically indistinguishable from those of control; the mutation reduces the permeability of GJB2 gap junction channels to inositol 1,4,5-trisphosphate (Ins(1,4,5)P3), resulting in blockade of the Ins(1,4,5)P3-induced inward calcium current in neighboring cells. 2 PublicationsCorresponds to variant dbSNP:rs104894409EnsemblClinVar. | 1 | |
| Natural variantiVAR_060800 | 84 | V → M in DFNB1A; the mutant disrupts cellular communication. 1 PublicationCorresponds to variant dbSNP:rs104894409EnsemblClinVar. | 1 | |
| Natural variantiVAR_015458 | 86 | T → R in DFNB1A; does not form gap junctions since the mutated protein is confined in the cytoplasm and not transported to the cell membrane; when the mutation is coexpressed with the wild-type protein ionic and biochemical coupling is normal consistent with the recessive nature of the mutation. 2 Publications | 1 | |
| Natural variantiVAR_015937 | 90 | L → P in DFNB1A. 2 PublicationsCorresponds to variant dbSNP:rs80338945EnsemblClinVar. | 1 | |
| Natural variantiVAR_023609 | 93 | M → I in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs397516871EnsemblClinVar. | 1 | |
| Natural variantiVAR_002144 | 95 | V → M in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs111033299EnsemblClinVar. | 1 | |
| Natural variantiVAR_002145 | 113 | S → R in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs80338946EnsemblClinVar. | 1 | |
| Natural variantiVAR_060801 | 118 | Missing in DFNB1A. | 1 | |
| Natural variantiVAR_023610 | 120 | Missing in DFNB1A. 1 Publication | 1 | |
| Natural variantiVAR_023611 | 129 | E → K in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs397516875EnsemblClinVar. | 1 | |
| Natural variantiVAR_069520 | 130 | G → A in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs779018464EnsemblClinVar. | 1 | |
| Natural variantiVAR_069521 | 130 | G → D in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs779018464EnsemblClinVar. | 1 | |
| Natural variantiVAR_015460 | 143 | R → W in DFNB1A. 4 PublicationsCorresponds to variant dbSNP:rs80338948EnsemblClinVar. | 1 | |
| Natural variantiVAR_015941 | 159 | D → V in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs28931592EnsemblClinVar. | 1 | |
| Natural variantiVAR_023613 | 178 | V → A in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs568612627EnsemblClinVar. | 1 | |
| Natural variantiVAR_015943 | 184 | R → P in DFNB1A. 2 PublicationsCorresponds to variant dbSNP:rs80338950EnsemblClinVar. | 1 | |
| Natural variantiVAR_009969 | 184 | R → W in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs998045226EnsemblClinVar. | 1 | |
| Natural variantiVAR_023616 | 203 | I → K in DFNB1A. 1 Publication | 1 | |
| Natural variantiVAR_023617 | 214 | L → P in DFNB1A. 1 Publication | 1 |
Deafness, autosomal dominant, 3A (DFNA3A)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic 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.
See also OMIM:601544| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_008709 | 44 | W → C in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs104894407EnsemblClinVar. | 1 | |
| Natural variantiVAR_032749 | 44 | W → S in DFNA3A; does not affect protein trafficking; affects the ability to form functional channels; dominant negative effect. 1 PublicationCorresponds to variant dbSNP:rs104894413EnsemblClinVar. | 1 | |
| Natural variantiVAR_060798 | 46 | D → E in DFNA3A; the mutant is targeted to the plasma membrane but failes to transfer ionic calcium or propidium iodide intercellularly suggesting disruption of both ionic and biochemical coupling; heterozygous gap junctions also show dysfunctional intercellular couplings and hemichannel opening confirming the dominant-negative nature of the mutation. 1 Publication | 1 | |
| Natural variantiVAR_015940 | 143 | R → Q in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs104894401EnsemblClinVar. | 1 | |
| Natural variantiVAR_032752 | 179 | D → N in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs28931595EnsemblClinVar. | 1 | |
| Natural variantiVAR_023614 | 184 | R → Q in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs80338950EnsemblClinVar. | 1 | |
| Natural variantiVAR_023615 | 197 | A → S in DFNA3A. 1 Publication | 1 | |
| Natural variantiVAR_015944 | 202 | C → F in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs104894406EnsemblClinVar. | 1 |
Vohwinkel syndrome (VOWNKL)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disease characterized by hyperkeratosis, constriction on fingers and toes and congenital deafness.
See also OMIM:124500| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_069522 | 130 | G → V in VOWNKL. 2 Publications | 1 |
Keratoderma, palmoplantar, with deafness (PPKDFN)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high-frequency, sensorineural deafness.
See also OMIM:148350| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_009965 | 59 | 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. 2 PublicationsCorresponds to variant dbSNP:rs104894404EnsemblClinVar. | 1 | |
| Natural variantiVAR_060799 | 73 | H → R in PPKDFN; the mutant has a dominant-negative effect on connexin trafficking. 1 PublicationCorresponds to variant dbSNP:rs121912968EnsemblClinVar. | 1 | |
| Natural variantiVAR_015936 | 75 | R → Q in PPKDFN; the mutant protein completely prevents the formation of functional channels. 2 PublicationsCorresponds to variant dbSNP:rs28931593EnsemblClinVar. | 1 |
Keratitis-ichthyosis-deafness syndrome (KID syndrome)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant form of ectodermal dysplasia. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Keratitis-ichthyosis-deafness syndrome is characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. Clinical features include deafness, ichthyosis, photophobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails.
See also OMIM:148210| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_015453 | 12 | G → R in KID syndrome. 1 PublicationCorresponds to variant dbSNP:rs104894408EnsemblClinVar. | 1 | |
| Natural variantiVAR_015454 | 17 | S → F in KID syndrome. 1 PublicationCorresponds to variant dbSNP:rs28929485EnsemblClinVar. | 1 | |
| Natural variantiVAR_015935 | 50 | D → Y in KID syndrome. 1 PublicationCorresponds to variant dbSNP:rs28931594EnsemblClinVar. | 1 |
Bart-Pumphrey syndrome (BPS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability.
See also OMIM:149200| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_032750 | 54 | N → K in BPS. 1 PublicationCorresponds to variant dbSNP:rs104894412EnsemblClinVar. | 1 | |
| Natural variantiVAR_032751 | 59 | G → S in BPS. 1 PublicationCorresponds to variant dbSNP:rs104894410EnsemblClinVar. | 1 |
Ichthyosis hystrix-like with deafness syndrome (HID syndrome)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant 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.
See also OMIM:602540Keywords - Diseasei
Deafness, Disease mutation, Ectodermal dysplasia, Ichthyosis, Non-syndromic deafness, Palmoplantar keratodermaOrganism-specific databases
| DisGeNETi | 2706 |
| GeneReviewsi | GJB2 |
| MalaCardsi | GJB2 |
| MIMi | 124500 phenotype 148210 phenotype 148350 phenotype 149200 phenotype 220290 phenotype 601544 phenotype 602540 phenotype |
| OpenTargetsi | ENSG00000165474 |
| Orphaneti | 90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA 90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB 494 Keratoderma hereditarium mutilans 477 KID syndrome 2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome 2202 Palmoplantar keratoderma-deafness syndrome 166286 Porokeratotic eccrine ostial and dermal duct nevus |
| PharmGKBi | PA28695 |
Polymorphism and mutation databases
| BioMutai | GJB2 |
| DMDMi | 77416855 |
PTM / Processingi
Molecule processing
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| ChainiPRO_0000057855 | 1 – 226 | Gap junction beta-2 proteinAdd BLAST | 226 |
Amino acid modifications
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Disulfide bondi | 53 ↔ 180 | 1 Publication | ||
| Disulfide bondi | 60 ↔ 174 | 1 Publication | ||
| Disulfide bondi | 64 ↔ 169 | 1 Publication |
Keywords - PTMi
Disulfide bondProteomic databases
| PaxDbi | P29033 |
| PeptideAtlasi | P29033 |
| PRIDEi | P29033 |
| ProteomicsDBi | 54514 |
PTM databases
| iPTMneti | P29033 |
| PhosphoSitePlusi | P29033 |
Expressioni
Gene expression databases
| Bgeei | ENSG00000165474 Expressed in 148 organ(s), highest expression level in ectocervix |
| ExpressionAtlasi | P29033 baseline and differential |
| Genevisiblei | P29033 HS |
Organism-specific databases
| HPAi | CAB013093 HPA014362 |
Interactioni
Subunit structurei
A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity).By similarity
Binary interactionsi
GO - Molecular functioni
- identical protein binding Source: IntAct
Protein-protein interaction databases
| BioGridi | 108972, 21 interactors |
| DIPi | DIP-59742N |
| IntActi | P29033, 44 interactors |
| STRINGi | 9606.ENSP00000372295 |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
| ProteinModelPortali | P29033 |
| SMRi | P29033 |
| ModBasei | Search... |
| MobiDBi | Search... |
Miscellaneous databases
| EvolutionaryTracei | P29033 |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
| eggNOGi | ENOG410IFM8 Eukaryota ENOG410Y7VN LUCA |
| GeneTreei | ENSGT00910000144026 |
| HOVERGENi | HBG009576 |
| InParanoidi | P29033 |
| KOi | K07621 |
| OMAi | VMYDGFA |
| OrthoDBi | EOG091G0FKH |
| PhylomeDBi | P29033 |
| TreeFami | TF329606 |
Family and domain databases
| Gene3Di | 1.20.1440.80, 1 hit |
| InterProi | View protein in InterPro IPR000500 Connexin IPR002268 Connexin26 IPR019570 Connexin_CCC IPR017990 Connexin_CS IPR013092 Connexin_N IPR038359 Connexin_N_sf |
| PANTHERi | PTHR11984 PTHR11984, 1 hit |
| Pfami | View protein in Pfam PF00029 Connexin, 1 hit |
| PRINTSi | PR00206 CONNEXIN PR01139 CONNEXINB2 |
| SMARTi | View protein in SMART SM00037 CNX, 1 hit SM01089 Connexin_CCC, 1 hit |
| PROSITEi | View protein in PROSITE PS00407 CONNEXINS_1, 1 hit PS00408 CONNEXINS_2, 1 hit |
Sequencei
Sequence statusi: Complete.
P29033-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MDWGTLQTIL GGVNKHSTSI GKIWLTVLFI FRIMILVVAA KEVWGDEQAD
60 70 80 90 100
FVCNTLQPGC KNVCYDHYFP ISHIRLWALQ LIFVSTPALL VAMHVAYRRH
110 120 130 140 150
EKKRKFIKGE IKSEFKDIEE IKTQKVRIEG SLWWTYTSSI FFRVIFEAAF
160 170 180 190 200
MYVFYVMYDG FSMQRLVKCN AWPCPNTVDC FVSRPTEKTV FTVFMIAVSG
210 220
ICILLNVTEL CYLLIRYCSG KSKKPV
Experimental Info
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Sequence conflicti | 86 | T → S in AAD21314 (PubMed:1324944).Curated | 1 | |
| Sequence conflicti | 112 | K → N in AAY25170 (PubMed:15666300).Curated | 1 |
Natural variant
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_015453 | 12 | G → R in KID syndrome. 1 PublicationCorresponds to variant dbSNP:rs104894408EnsemblClinVar. | 1 | |
| Natural variantiVAR_015454 | 17 | S → F in KID syndrome. 1 PublicationCorresponds to variant dbSNP:rs28929485EnsemblClinVar. | 1 | |
| Natural variantiVAR_002137 | 27 | V → I7 PublicationsCorresponds to variant dbSNP:rs2274084EnsemblClinVar. | 1 | |
| Natural variantiVAR_023605 | 32 | R → H in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs111033190EnsemblClinVar. | 1 | |
| Natural variantiVAR_016839 | 32 | R → L1 PublicationCorresponds to variant dbSNP:rs111033190EnsemblClinVar. | 1 | |
| Natural variantiVAR_002138 | 34 | M → T Frequently found in deafness patients; it is correctly synthesized and targeted to the plasma membrane; it inefficiently forms intercellular channels that display an abnormal electrical behavior; uncertain pathological significance. 5 PublicationsCorresponds to variant dbSNP:rs35887622EnsemblClinVar. | 1 | |
| Natural variantiVAR_002139 | 37 | V → I in DFNB1A; was reported first as a polymorphism. 9 PublicationsCorresponds to variant dbSNP:rs72474224EnsemblClinVar. | 1 | |
| Natural variantiVAR_008709 | 44 | W → C in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs104894407EnsemblClinVar. | 1 | |
| Natural variantiVAR_032749 | 44 | W → S in DFNA3A; does not affect protein trafficking; affects the ability to form functional channels; dominant negative effect. 1 PublicationCorresponds to variant dbSNP:rs104894413EnsemblClinVar. | 1 | |
| Natural variantiVAR_015455 | 45 | G → E in deafness. 1 PublicationCorresponds to variant dbSNP:rs72561723EnsemblClinVar. | 1 | |
| Natural variantiVAR_023606 | 46 – 48 | DEQ → E May contribute to deafness. 1 Publication | 3 | |
| Natural variantiVAR_060798 | 46 | D → E in DFNA3A; the mutant is targeted to the plasma membrane but failes to transfer ionic calcium or propidium iodide intercellularly suggesting disruption of both ionic and biochemical coupling; heterozygous gap junctions also show dysfunctional intercellular couplings and hemichannel opening confirming the dominant-negative nature of the mutation. 1 Publication | 1 | |
| Natural variantiVAR_015456 | 50 | D → N in KID syndrome and HID syndrome. 4 PublicationsCorresponds to variant dbSNP:rs28931594EnsemblClinVar. | 1 | |
| Natural variantiVAR_015935 | 50 | D → Y in KID syndrome. 1 PublicationCorresponds to variant dbSNP:rs28931594EnsemblClinVar. | 1 | |
| Natural variantiVAR_032750 | 54 | N → K in BPS. 1 PublicationCorresponds to variant dbSNP:rs104894412EnsemblClinVar. | 1 | |
| Natural variantiVAR_009965 | 59 | 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. 2 PublicationsCorresponds to variant dbSNP:rs104894404EnsemblClinVar. | 1 | |
| Natural variantiVAR_032751 | 59 | G → S in BPS. 1 PublicationCorresponds to variant dbSNP:rs104894410EnsemblClinVar. | 1 | |
| Natural variantiVAR_008710 | 66 | D → H in VOWNKL 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. 3 PublicationsCorresponds to variant dbSNP:rs104894403EnsemblClinVar. | 1 | |
| Natural variantiVAR_015457 | 71 | I → T in deafness. 1 Publication | 1 | |
| Natural variantiVAR_060799 | 73 | H → R in PPKDFN; the mutant has a dominant-negative effect on connexin trafficking. 1 PublicationCorresponds to variant dbSNP:rs121912968EnsemblClinVar. | 1 | |
| Natural variantiVAR_015936 | 75 | R → Q in PPKDFN; the mutant protein completely prevents the formation of functional channels. 2 PublicationsCorresponds to variant dbSNP:rs28931593EnsemblClinVar. | 1 | |
| Natural variantiVAR_002140 | 75 | R → W in PPKDFN and DFNA3A; does not affect protein trafficking; affects the ability to form functional channels; dominant negative effect. 2 PublicationsCorresponds to variant dbSNP:rs104894402EnsemblClinVar. | 1 | |
| Natural variantiVAR_002141 | 77 | W → R in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs104894397EnsemblClinVar. | 1 | |
| Natural variantiVAR_023607 | 79 | L → P in DFNB1A. 1 Publication | 1 | |
| Natural variantiVAR_023608 | 80 | Q → K in DFNB1A. 1 Publication | 1 | |
| Natural variantiVAR_002142 | 83 | F → L1 PublicationCorresponds to variant dbSNP:rs111033218EnsemblClinVar. | 1 | |
| Natural variantiVAR_002143 | 84 | V → L in DFNB1A; sorted to the plasma membrane normally and forms gap junctions that were morphologically and electrically indistinguishable from those of control; the mutation reduces the permeability of GJB2 gap junction channels to inositol 1,4,5-trisphosphate (Ins(1,4,5)P3), resulting in blockade of the Ins(1,4,5)P3-induced inward calcium current in neighboring cells. 2 PublicationsCorresponds to variant dbSNP:rs104894409EnsemblClinVar. | 1 | |
| Natural variantiVAR_060800 | 84 | V → M in DFNB1A; the mutant disrupts cellular communication. 1 PublicationCorresponds to variant dbSNP:rs104894409EnsemblClinVar. | 1 | |
| Natural variantiVAR_015458 | 86 | T → R in DFNB1A; does not form gap junctions since the mutated protein is confined in the cytoplasm and not transported to the cell membrane; when the mutation is coexpressed with the wild-type protein ionic and biochemical coupling is normal consistent with the recessive nature of the mutation. 2 Publications | 1 | |
| Natural variantiVAR_015937 | 90 | L → P in DFNB1A. 2 PublicationsCorresponds to variant dbSNP:rs80338945EnsemblClinVar. | 1 | |
| Natural variantiVAR_023609 | 93 | M → I in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs397516871EnsemblClinVar. | 1 | |
| Natural variantiVAR_002144 | 95 | V → M in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs111033299EnsemblClinVar. | 1 | |
| Natural variantiVAR_015938 | 111 | I → T1 Publication | 1 | |
| Natural variantiVAR_002145 | 113 | S → R in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs80338946EnsemblClinVar. | 1 | |
| Natural variantiVAR_009966 | 114 | E → G5 PublicationsCorresponds to variant dbSNP:rs2274083EnsemblClinVar. | 1 | |
| Natural variantiVAR_069519 | 117 | D → H1 Publication | 1 | |
| Natural variantiVAR_060801 | 118 | Missing in DFNB1A. | 1 | |
| Natural variantiVAR_023610 | 120 | Missing in DFNB1A. 1 Publication | 1 | |
| Natural variantiVAR_015459 | 123 | T → N1 PublicationCorresponds to variant dbSNP:rs111033188EnsemblClinVar. | 1 | |
| Natural variantiVAR_015939 | 127 | R → H Very common polymorphism in India. 3 PublicationsCorresponds to variant dbSNP:rs111033196EnsemblClinVar. | 1 | |
| Natural variantiVAR_023611 | 129 | E → K in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs397516875EnsemblClinVar. | 1 | |
| Natural variantiVAR_069520 | 130 | G → A in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs779018464EnsemblClinVar. | 1 | |
| Natural variantiVAR_069521 | 130 | G → D in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs779018464EnsemblClinVar. | 1 | |
| Natural variantiVAR_069522 | 130 | G → V in VOWNKL. 2 Publications | 1 | |
| Natural variantiVAR_069523 | 142 | Missing 1 Publication | 1 | |
| Natural variantiVAR_015940 | 143 | R → Q in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs104894401EnsemblClinVar. | 1 | |
| Natural variantiVAR_015460 | 143 | R → W in DFNB1A. 4 PublicationsCorresponds to variant dbSNP:rs80338948EnsemblClinVar. | 1 | |
| Natural variantiVAR_069524 | 148 | A → P1 Publication | 1 | |
| Natural variantiVAR_009967 | 153 | V → I May contribute to deafness. 3 PublicationsCorresponds to variant dbSNP:rs111033186EnsemblClinVar. | 1 | |
| Natural variantiVAR_015941 | 159 | D → V in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs28931592EnsemblClinVar. | 1 | |
| Natural variantiVAR_002146 | 160 | G → S2 PublicationsCorresponds to variant dbSNP:rs34988750EnsemblClinVar. | 1 | |
| Natural variantiVAR_015942 | 165 | R → W1 PublicationCorresponds to variant dbSNP:rs376898963EnsemblClinVar. | 1 | |
| Natural variantiVAR_023612 | 167 | V → M May contribute to deafness. 1 PublicationCorresponds to variant dbSNP:rs111033360EnsemblClinVar. | 1 | |
| Natural variantiVAR_057959 | 168 | K → R in a patient with congenital erythrokeratodermia; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200104362EnsemblClinVar. | 1 | |
| Natural variantiVAR_009968 | 169 | C → Y. Corresponds to variant dbSNP:rs774518779EnsemblClinVar. | 1 | |
| Natural variantiVAR_023613 | 178 | V → A in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs568612627EnsemblClinVar. | 1 | |
| Natural variantiVAR_032752 | 179 | D → N in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs28931595EnsemblClinVar. | 1 | |
| Natural variantiVAR_015943 | 184 | R → P in DFNB1A. 2 PublicationsCorresponds to variant dbSNP:rs80338950EnsemblClinVar. | 1 | |
| Natural variantiVAR_023614 | 184 | R → Q in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs80338950EnsemblClinVar. | 1 | |
| Natural variantiVAR_009969 | 184 | R → W in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs998045226EnsemblClinVar. | 1 | |
| Natural variantiVAR_015461 | 191 | F → L1 PublicationCorresponds to variant dbSNP:rs397516878EnsemblClinVar. | 1 | |
| Natural variantiVAR_023615 | 197 | A → S in DFNA3A. 1 Publication | 1 | |
| Natural variantiVAR_015944 | 202 | C → F in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs104894406EnsemblClinVar. | 1 | |
| Natural variantiVAR_023616 | 203 | I → K in DFNB1A. 1 Publication | 1 | |
| Natural variantiVAR_009970 | 203 | I → T2 PublicationsCorresponds to variant dbSNP:rs76838169EnsemblClinVar. | 1 | |
| Natural variantiVAR_023617 | 214 | L → P in DFNB1A. 1 Publication | 1 |
Sequence databases
| Select the link destinations: EMBLi GenBanki DDBJi Links Updated | 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 No translation available. BC017048 mRNA Translation: AAH17048.1 BC071703 mRNA Translation: AAH71703.1 |
| CCDSi | CCDS9290.1 |
| PIRi | A43424 |
| RefSeqi | NP_003995.2, NM_004004.5 XP_011533351.1, XM_011535049.2 |
| UniGenei | Hs.524894 Hs.714494 |
Genome annotation databases
| Ensembli | ENST00000382844; ENSP00000372295; ENSG00000165474 ENST00000382848; ENSP00000372299; ENSG00000165474 ENST00000645189; ENSP00000495035; ENSG00000165474 |
| GeneIDi | 2706 |
| KEGGi | hsa:2706 |
| UCSCi | uc001umy.4 human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
| Connexin-deafness homepage |
| Hereditary hearing loss homepage Gene page |
Sequence databases
| Select the link destinations: EMBLi GenBanki DDBJi Links Updated | 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 No translation available. BC017048 mRNA Translation: AAH17048.1 BC071703 mRNA Translation: AAH71703.1 |
| CCDSi | CCDS9290.1 |
| PIRi | A43424 |
| RefSeqi | NP_003995.2, NM_004004.5 XP_011533351.1, XM_011535049.2 |
| UniGenei | Hs.524894 Hs.714494 |
3D structure databases
| Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
| 1XIR | model | - | A | 1-226 | [»] | |
| 2ZW3 | X-ray | 3.50 | A/B/C/D/E/F | 1-226 | [»] | |
| 3IZ1 | electron microscopy | - | A/B/C | 1-226 | [»] | |
| 3IZ2 | electron microscopy | - | A/B/C | 8-226 | [»] | |
| 5ER7 | X-ray | 3.29 | A/B | 1-226 | [»] | |
| 5ERA | X-ray | 3.80 | A/B | 1-226 | [»] | |
| 5KJ3 | NMR | - | A | 1-22 | [»] | |
| 5KJG | NMR | - | A | 1-22 | [»] | |
| ProteinModelPortali | P29033 | |||||
| SMRi | P29033 | |||||
| ModBasei | Search... | |||||
| MobiDBi | Search... | |||||
Protein-protein interaction databases
| BioGridi | 108972, 21 interactors |
| DIPi | DIP-59742N |
| IntActi | P29033, 44 interactors |
| STRINGi | 9606.ENSP00000372295 |
Protein family/group databases
| TCDBi | 1.A.24.1.3 the gap junction-forming connexin (connexin) family |
PTM databases
| iPTMneti | P29033 |
| PhosphoSitePlusi | P29033 |
Polymorphism and mutation databases
| BioMutai | GJB2 |
| DMDMi | 77416855 |
Proteomic databases
| PaxDbi | P29033 |
| PeptideAtlasi | P29033 |
| PRIDEi | P29033 |
| ProteomicsDBi | 54514 |
Protocols and materials databases
| DNASUi | 2706 |
| Structural Biology Knowledgebase | Search... |
Genome annotation databases
| Ensembli | ENST00000382844; ENSP00000372295; ENSG00000165474 ENST00000382848; ENSP00000372299; ENSG00000165474 ENST00000645189; ENSP00000495035; ENSG00000165474 |
| GeneIDi | 2706 |
| KEGGi | hsa:2706 |
| UCSCi | uc001umy.4 human |
Organism-specific databases
| CTDi | 2706 |
| DisGeNETi | 2706 |
| EuPathDBi | HostDB:ENSG00000165474.5 |
| GeneCardsi | GJB2 |
| GeneReviewsi | GJB2 |
| HGNCi | HGNC:4284 GJB2 |
| HPAi | CAB013093 HPA014362 |
| MalaCardsi | GJB2 |
| MIMi | 121011 gene 124500 phenotype 148210 phenotype 148350 phenotype 149200 phenotype 220290 phenotype 601544 phenotype 602540 phenotype |
| neXtProti | NX_P29033 |
| OpenTargetsi | ENSG00000165474 |
| Orphaneti | 90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA 90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB 494 Keratoderma hereditarium mutilans 477 KID syndrome 2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome 2202 Palmoplantar keratoderma-deafness syndrome 166286 Porokeratotic eccrine ostial and dermal duct nevus |
| PharmGKBi | PA28695 |
| GenAtlasi | Search... |
Phylogenomic databases
| eggNOGi | ENOG410IFM8 Eukaryota ENOG410Y7VN LUCA |
| GeneTreei | ENSGT00910000144026 |
| HOVERGENi | HBG009576 |
| InParanoidi | P29033 |
| KOi | K07621 |
| OMAi | VMYDGFA |
| OrthoDBi | EOG091G0FKH |
| PhylomeDBi | P29033 |
| TreeFami | TF329606 |
Enzyme and pathway databases
| Reactomei | R-HSA-190704 Oligomerization of connexins into connexons R-HSA-190827 Transport of connexins along the secretory pathway R-HSA-190861 Gap junction assembly R-HSA-190872 Transport of connexons to the plasma membrane |
| SIGNORi | P29033 |
Miscellaneous databases
| EvolutionaryTracei | P29033 |
| GeneWikii | GJB2 |
| GenomeRNAii | 2706 |
| PROi | PR:P29033 |
| SOURCEi | Search... |
Gene expression databases
| Bgeei | ENSG00000165474 Expressed in 148 organ(s), highest expression level in ectocervix |
| ExpressionAtlasi | P29033 baseline and differential |
| Genevisiblei | P29033 HS |
Family and domain databases
| Gene3Di | 1.20.1440.80, 1 hit |
| InterProi | View protein in InterPro IPR000500 Connexin IPR002268 Connexin26 IPR019570 Connexin_CCC IPR017990 Connexin_CS IPR013092 Connexin_N IPR038359 Connexin_N_sf |
| PANTHERi | PTHR11984 PTHR11984, 1 hit |
| Pfami | View protein in Pfam PF00029 Connexin, 1 hit |
| PRINTSi | PR00206 CONNEXIN PR01139 CONNEXINB2 |
| SMARTi | View protein in SMART SM00037 CNX, 1 hit SM01089 Connexin_CCC, 1 hit |
| PROSITEi | View protein in PROSITE PS00407 CONNEXINS_1, 1 hit PS00408 CONNEXINS_2, 1 hit |
| ProtoNeti | Search... |
Entry informationi
| Entry namei | CXB2_HUMAN | |
| Accessioni | P29033Primary (citable) accession number: P29033 Secondary accession number(s): Q508A5 Q9NNY4 | |
| Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 1, 1992 |
| Last sequence update: | October 11, 2005 | |
| Last modified: | November 7, 2018 | |
| This is version 206 of the entry and version 3 of the sequence. See complete history. | ||
| Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
| Annotation program | Chordata Protein Annotation Program | |
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | |
Miscellaneousi
Keywords - Technical termi
3D-structure, Complete proteome, Reference proteomeDocuments
- SIMILARITY comments
Index of protein domains and families - 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 - Human chromosome 13
Human chromosome 13: entries, gene names and cross-references to MIM
