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Protein

Gap junction beta-2 protein

Gene

GJB2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

  • identical protein binding Source: IntAct

GO - Biological processi

  • cell-cell signaling Source: ProtInc
  • gap junction assembly Source: Reactome
  • sensory perception of sound Source: ProtInc

Keywordsi

Biological processHearing

Enzyme and pathway databases

ReactomeiR-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
SIGNORiP29033

Protein family/group databases

TCDBi1.A.24.1.3 the gap junction-forming connexin (connexin) family

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction beta-2 protein
Alternative name(s):
Connexin-26
Short name:
Cx26
Gene namesi
Name:GJB2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000165474.5
HGNCiHGNC:4284 GJB2
MIMi121011 gene
neXtProtiNX_P29033

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 20CytoplasmicSequence analysisAdd BLAST20
Transmembranei21 – 40HelicalSequence analysisAdd BLAST20
Topological domaini41 – 75ExtracellularSequence analysisAdd BLAST35
Transmembranei76 – 98HelicalSequence analysisAdd BLAST23
Topological domaini99 – 131CytoplasmicSequence analysisAdd BLAST33
Transmembranei132 – 154HelicalSequence analysisAdd BLAST23
Topological domaini155 – 192ExtracellularSequence analysisAdd BLAST38
Transmembranei193 – 215HelicalSequence analysisAdd BLAST23
Topological domaini216 – 226CytoplasmicSequence analysisAdd BLAST11

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & 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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02360532R → H in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs111033190EnsemblClinVar.1
Natural variantiVAR_00213937V → I in DFNB1A; was reported first as a polymorphism. 9 PublicationsCorresponds to variant dbSNP:rs72474224EnsemblClinVar.1
Natural variantiVAR_00214177W → R in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs104894397EnsemblClinVar.1
Natural variantiVAR_02360779L → P in DFNB1A. 1 Publication1
Natural variantiVAR_02360880Q → K in DFNB1A. 1 Publication1
Natural variantiVAR_00214384V → 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_06080084V → M in DFNB1A; the mutant disrupts cellular communication. 1 PublicationCorresponds to variant dbSNP:rs104894409EnsemblClinVar.1
Natural variantiVAR_01545886T → 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 Publications1
Natural variantiVAR_01593790L → P in DFNB1A. 2 PublicationsCorresponds to variant dbSNP:rs80338945EnsemblClinVar.1
Natural variantiVAR_02360993M → I in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs397516871EnsemblClinVar.1
Natural variantiVAR_00214495V → M in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs111033299EnsemblClinVar.1
Natural variantiVAR_002145113S → R in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs80338946EnsemblClinVar.1
Natural variantiVAR_060801118Missing in DFNB1A. 1
Natural variantiVAR_023610120Missing in DFNB1A. 1 Publication1
Natural variantiVAR_023611129E → K in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs397516875EnsemblClinVar.1
Natural variantiVAR_069520130G → A in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs779018464EnsemblClinVar.1
Natural variantiVAR_069521130G → D in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs779018464EnsemblClinVar.1
Natural variantiVAR_015460143R → W in DFNB1A. 4 PublicationsCorresponds to variant dbSNP:rs80338948EnsemblClinVar.1
Natural variantiVAR_015941159D → V in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs28931592EnsemblClinVar.1
Natural variantiVAR_023613178V → A in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs568612627EnsemblClinVar.1
Natural variantiVAR_015943184R → P in DFNB1A. 2 PublicationsCorresponds to variant dbSNP:rs80338950EnsemblClinVar.1
Natural variantiVAR_009969184R → W in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs998045226Ensembl.1
Natural variantiVAR_023616203I → K in DFNB1A. 1 Publication1
Natural variantiVAR_023617214L → P in DFNB1A. 1 Publication1
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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00870944W → C in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs104894407EnsemblClinVar.1
Natural variantiVAR_03274944W → 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_06079846D → 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 Publication1
Natural variantiVAR_015940143R → Q in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs104894401EnsemblClinVar.1
Natural variantiVAR_032752179D → N in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs28931595EnsemblClinVar.1
Natural variantiVAR_023614184R → Q in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs80338950EnsemblClinVar.1
Natural variantiVAR_023615197A → S in DFNA3A. 1 Publication1
Natural variantiVAR_015944202C → 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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069522130G → V in VOWNKL. 2 Publications1
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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00996559G → 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_06079973H → R in PPKDFN; the mutant has a dominant-negative effect on connexin trafficking. 1 PublicationCorresponds to variant dbSNP:rs121912968EnsemblClinVar.1
Natural variantiVAR_01593675R → 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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01545312G → R in KID syndrome. 1 PublicationCorresponds to variant dbSNP:rs104894408EnsemblClinVar.1
Natural variantiVAR_01545417S → F in KID syndrome. 1 PublicationCorresponds to variant dbSNP:rs28929485EnsemblClinVar.1
Natural variantiVAR_01593550D → 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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03275054N → K in BPS. 1 PublicationCorresponds to variant dbSNP:rs104894412EnsemblClinVar.1
Natural variantiVAR_03275159G → 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:602540

Keywords - Diseasei

Deafness, Disease mutation, Ectodermal dysplasia, Ichthyosis, Non-syndromic deafness, Palmoplantar keratoderma

Organism-specific databases

DisGeNETi2706
GeneReviewsiGJB2
MalaCardsiGJB2
MIMi124500 phenotype
148210 phenotype
148350 phenotype
149200 phenotype
220290 phenotype
601544 phenotype
602540 phenotype
OpenTargetsiENSG00000165474
Orphaneti90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
330029 Hypotrichosis-deafness syndrome
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
PharmGKBiPA28695

Polymorphism and mutation databases

BioMutaiGJB2
DMDMi77416855

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000578551 – 226Gap junction beta-2 proteinAdd BLAST226

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi53 ↔ 1801 Publication
Disulfide bondi60 ↔ 1741 Publication
Disulfide bondi64 ↔ 1691 Publication

Keywords - PTMi

Disulfide bond

Proteomic databases

PaxDbiP29033
PeptideAtlasiP29033
PRIDEiP29033
ProteomicsDBi54514

PTM databases

iPTMnetiP29033
PhosphoSitePlusiP29033

Expressioni

Gene expression databases

BgeeiENSG00000165474 Expressed in 148 organ(s), highest expression level in ectocervix
ExpressionAtlasiP29033 baseline and differential
GenevisibleiP29033 HS

Organism-specific databases

HPAiCAB013093
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

Protein-protein interaction databases

BioGridi108972, 21 interactors
DIPiDIP-59742N
IntActiP29033, 44 interactors
STRINGi9606.ENSP00000372295

Structurei

Secondary structure

1226
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP29033
SMRiP29033
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP29033

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IFM8 Eukaryota
ENOG410Y7VN LUCA
GeneTreeiENSGT00910000144026
HOVERGENiHBG009576
InParanoidiP29033
KOiK07621
OMAiVMYDGFA
OrthoDBiEOG091G0FKH
PhylomeDBiP29033
TreeFamiTF329606

Family and domain databases

Gene3Di1.20.1440.80, 1 hit
InterProiView protein in InterPro
IPR000500 Connexin
IPR002268 Connexin26
IPR019570 Connexin_CCC
IPR017990 Connexin_CS
IPR013092 Connexin_N
IPR038359 Connexin_N_sf
PANTHERiPTHR11984 PTHR11984, 1 hit
PfamiView protein in Pfam
PF00029 Connexin, 1 hit
PRINTSiPR00206 CONNEXIN
PR01139 CONNEXINB2
SMARTiView protein in SMART
SM00037 CNX, 1 hit
SM01089 Connexin_CCC, 1 hit
PROSITEiView protein in PROSITE
PS00407 CONNEXINS_1, 1 hit
PS00408 CONNEXINS_2, 1 hit

Sequencei

Sequence statusi: Complete.

P29033-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:226
Mass (Da):26,215
Last modified:October 11, 2005 - v3
Checksum:iD35293C6747E908C
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti86T → S in AAD21314 (PubMed:1324944).Curated1
Sequence conflicti112K → N in AAY25170 (PubMed:15666300).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01545312G → R in KID syndrome. 1 PublicationCorresponds to variant dbSNP:rs104894408EnsemblClinVar.1
Natural variantiVAR_01545417S → F in KID syndrome. 1 PublicationCorresponds to variant dbSNP:rs28929485EnsemblClinVar.1
Natural variantiVAR_00213727V → I7 PublicationsCorresponds to variant dbSNP:rs2274084EnsemblClinVar.1
Natural variantiVAR_02360532R → H in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs111033190EnsemblClinVar.1
Natural variantiVAR_01683932R → L1 PublicationCorresponds to variant dbSNP:rs111033190EnsemblClinVar.1
Natural variantiVAR_00213834M → 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_00213937V → I in DFNB1A; was reported first as a polymorphism. 9 PublicationsCorresponds to variant dbSNP:rs72474224EnsemblClinVar.1
Natural variantiVAR_00870944W → C in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs104894407EnsemblClinVar.1
Natural variantiVAR_03274944W → 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_01545545G → E in deafness. 1 PublicationCorresponds to variant dbSNP:rs72561723EnsemblClinVar.1
Natural variantiVAR_02360646 – 48DEQ → E May contribute to deafness. 1 Publication3
Natural variantiVAR_06079846D → 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 Publication1
Natural variantiVAR_01545650D → N in KID syndrome and HID syndrome. 4 PublicationsCorresponds to variant dbSNP:rs28931594EnsemblClinVar.1
Natural variantiVAR_01593550D → Y in KID syndrome. 1 PublicationCorresponds to variant dbSNP:rs28931594EnsemblClinVar.1
Natural variantiVAR_03275054N → K in BPS. 1 PublicationCorresponds to variant dbSNP:rs104894412EnsemblClinVar.1
Natural variantiVAR_00996559G → 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_03275159G → S in BPS. 1 PublicationCorresponds to variant dbSNP:rs104894410EnsemblClinVar.1
Natural variantiVAR_00871066D → 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_01545771I → T in deafness. 1 Publication1
Natural variantiVAR_06079973H → R in PPKDFN; the mutant has a dominant-negative effect on connexin trafficking. 1 PublicationCorresponds to variant dbSNP:rs121912968EnsemblClinVar.1
Natural variantiVAR_01593675R → Q in PPKDFN; the mutant protein completely prevents the formation of functional channels. 2 PublicationsCorresponds to variant dbSNP:rs28931593EnsemblClinVar.1
Natural variantiVAR_00214075R → 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_00214177W → R in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs104894397EnsemblClinVar.1
Natural variantiVAR_02360779L → P in DFNB1A. 1 Publication1
Natural variantiVAR_02360880Q → K in DFNB1A. 1 Publication1
Natural variantiVAR_00214283F → L1 PublicationCorresponds to variant dbSNP:rs111033218EnsemblClinVar.1
Natural variantiVAR_00214384V → 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_06080084V → M in DFNB1A; the mutant disrupts cellular communication. 1 PublicationCorresponds to variant dbSNP:rs104894409EnsemblClinVar.1
Natural variantiVAR_01545886T → 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 Publications1
Natural variantiVAR_01593790L → P in DFNB1A. 2 PublicationsCorresponds to variant dbSNP:rs80338945EnsemblClinVar.1
Natural variantiVAR_02360993M → I in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs397516871EnsemblClinVar.1
Natural variantiVAR_00214495V → M in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs111033299EnsemblClinVar.1
Natural variantiVAR_015938111I → T1 Publication1
Natural variantiVAR_002145113S → R in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs80338946EnsemblClinVar.1
Natural variantiVAR_009966114E → G5 PublicationsCorresponds to variant dbSNP:rs2274083EnsemblClinVar.1
Natural variantiVAR_069519117D → H1 Publication1
Natural variantiVAR_060801118Missing in DFNB1A. 1
Natural variantiVAR_023610120Missing in DFNB1A. 1 Publication1
Natural variantiVAR_015459123T → N1 PublicationCorresponds to variant dbSNP:rs111033188EnsemblClinVar.1
Natural variantiVAR_015939127R → H Very common polymorphism in India. 3 PublicationsCorresponds to variant dbSNP:rs111033196EnsemblClinVar.1
Natural variantiVAR_023611129E → K in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs397516875EnsemblClinVar.1
Natural variantiVAR_069520130G → A in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs779018464EnsemblClinVar.1
Natural variantiVAR_069521130G → D in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs779018464EnsemblClinVar.1
Natural variantiVAR_069522130G → V in VOWNKL. 2 Publications1
Natural variantiVAR_069523142Missing 1 Publication1
Natural variantiVAR_015940143R → Q in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs104894401EnsemblClinVar.1
Natural variantiVAR_015460143R → W in DFNB1A. 4 PublicationsCorresponds to variant dbSNP:rs80338948EnsemblClinVar.1
Natural variantiVAR_069524148A → P1 Publication1
Natural variantiVAR_009967153V → I May contribute to deafness. 3 PublicationsCorresponds to variant dbSNP:rs111033186EnsemblClinVar.1
Natural variantiVAR_015941159D → V in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs28931592EnsemblClinVar.1
Natural variantiVAR_002146160G → S2 PublicationsCorresponds to variant dbSNP:rs34988750EnsemblClinVar.1
Natural variantiVAR_015942165R → W1 PublicationCorresponds to variant dbSNP:rs376898963EnsemblClinVar.1
Natural variantiVAR_023612167V → M May contribute to deafness. 1 PublicationCorresponds to variant dbSNP:rs111033360EnsemblClinVar.1
Natural variantiVAR_057959168K → R in a patient with congenital erythrokeratodermia; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200104362EnsemblClinVar.1
Natural variantiVAR_009968169C → Y. Corresponds to variant dbSNP:rs774518779EnsemblClinVar.1
Natural variantiVAR_023613178V → A in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs568612627EnsemblClinVar.1
Natural variantiVAR_032752179D → N in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs28931595EnsemblClinVar.1
Natural variantiVAR_015943184R → P in DFNB1A. 2 PublicationsCorresponds to variant dbSNP:rs80338950EnsemblClinVar.1
Natural variantiVAR_023614184R → Q in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs80338950EnsemblClinVar.1
Natural variantiVAR_009969184R → W in DFNB1A. 1 PublicationCorresponds to variant dbSNP:rs998045226Ensembl.1
Natural variantiVAR_015461191F → L1 PublicationCorresponds to variant dbSNP:rs397516878EnsemblClinVar.1
Natural variantiVAR_023615197A → S in DFNA3A. 1 Publication1
Natural variantiVAR_015944202C → F in DFNA3A. 1 PublicationCorresponds to variant dbSNP:rs104894406EnsemblClinVar.1
Natural variantiVAR_023616203I → K in DFNB1A. 1 Publication1
Natural variantiVAR_009970203I → T2 PublicationsCorresponds to variant dbSNP:rs76838169EnsemblClinVar.1
Natural variantiVAR_023617214L → P in DFNB1A. 1 Publication1

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
CCDSiCCDS9290.1
PIRiA43424
RefSeqiNP_003995.2, NM_004004.5
XP_011533351.1, XM_011535049.2
UniGeneiHs.524894
Hs.714494

Genome annotation databases

EnsembliENST00000382844; ENSP00000372295; ENSG00000165474
ENST00000382848; ENSP00000372299; ENSG00000165474
ENST00000645189; ENSP00000495035; ENSG00000165474
GeneIDi2706
KEGGihsa:2706
UCSCiuc001umy.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar 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
CCDSiCCDS9290.1
PIRiA43424
RefSeqiNP_003995.2, NM_004004.5
XP_011533351.1, XM_011535049.2
UniGeneiHs.524894
Hs.714494

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1XIRmodel-A1-226[»]
2ZW3X-ray3.50A/B/C/D/E/F1-226[»]
3IZ1electron microscopy-A/B/C1-226[»]
3IZ2electron microscopy-A/B/C8-226[»]
5ER7X-ray3.29A/B1-226[»]
5ERAX-ray3.80A/B1-226[»]
5KJ3NMR-A1-22[»]
5KJGNMR-A1-22[»]
ProteinModelPortaliP29033
SMRiP29033
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108972, 21 interactors
DIPiDIP-59742N
IntActiP29033, 44 interactors
STRINGi9606.ENSP00000372295

Protein family/group databases

TCDBi1.A.24.1.3 the gap junction-forming connexin (connexin) family

PTM databases

iPTMnetiP29033
PhosphoSitePlusiP29033

Polymorphism and mutation databases

BioMutaiGJB2
DMDMi77416855

Proteomic databases

PaxDbiP29033
PeptideAtlasiP29033
PRIDEiP29033
ProteomicsDBi54514

Protocols and materials databases

DNASUi2706
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000382844; ENSP00000372295; ENSG00000165474
ENST00000382848; ENSP00000372299; ENSG00000165474
ENST00000645189; ENSP00000495035; ENSG00000165474
GeneIDi2706
KEGGihsa:2706
UCSCiuc001umy.4 human

Organism-specific databases

CTDi2706
DisGeNETi2706
EuPathDBiHostDB:ENSG00000165474.5
GeneCardsiGJB2
GeneReviewsiGJB2
HGNCiHGNC:4284 GJB2
HPAiCAB013093
HPA014362
MalaCardsiGJB2
MIMi121011 gene
124500 phenotype
148210 phenotype
148350 phenotype
149200 phenotype
220290 phenotype
601544 phenotype
602540 phenotype
neXtProtiNX_P29033
OpenTargetsiENSG00000165474
Orphaneti90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
330029 Hypotrichosis-deafness syndrome
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
PharmGKBiPA28695
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFM8 Eukaryota
ENOG410Y7VN LUCA
GeneTreeiENSGT00910000144026
HOVERGENiHBG009576
InParanoidiP29033
KOiK07621
OMAiVMYDGFA
OrthoDBiEOG091G0FKH
PhylomeDBiP29033
TreeFamiTF329606

Enzyme and pathway databases

ReactomeiR-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
SIGNORiP29033

Miscellaneous databases

EvolutionaryTraceiP29033
GeneWikiiGJB2
GenomeRNAii2706
PROiPR:P29033
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165474 Expressed in 148 organ(s), highest expression level in ectocervix
ExpressionAtlasiP29033 baseline and differential
GenevisibleiP29033 HS

Family and domain databases

Gene3Di1.20.1440.80, 1 hit
InterProiView protein in InterPro
IPR000500 Connexin
IPR002268 Connexin26
IPR019570 Connexin_CCC
IPR017990 Connexin_CS
IPR013092 Connexin_N
IPR038359 Connexin_N_sf
PANTHERiPTHR11984 PTHR11984, 1 hit
PfamiView protein in Pfam
PF00029 Connexin, 1 hit
PRINTSiPR00206 CONNEXIN
PR01139 CONNEXINB2
SMARTiView protein in SMART
SM00037 CNX, 1 hit
SM01089 Connexin_CCC, 1 hit
PROSITEiView protein in PROSITE
PS00407 CONNEXINS_1, 1 hit
PS00408 CONNEXINS_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCXB2_HUMAN
AccessioniPrimary (citable) accession number: P29033
Secondary accession number(s): Q508A5
, Q508A6, Q5YLL0, Q5YLL1, Q5YLL4, Q6IPV5, Q86U88, Q96AK0, Q9H536, Q9NNY4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 1992
Last sequence update: October 11, 2005
Last modified: September 12, 2018
This is version 205 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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 proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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