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Protein

Gap junction beta-2 protein

Gene

GJB2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.

GO - Molecular functioni

GO - Biological processi

  • cell-cell signaling Source: ProtInc
  • cellular response to oxidative stress Source: Ensembl
  • decidualization Source: Ensembl
  • gap junction assembly Source: Reactome
  • male genitalia development Source: Ensembl
  • response to estradiol Source: Ensembl
  • response to human chorionic gonadotropin Source: Ensembl
  • response to progesterone Source: Ensembl
  • sensory perception of sound Source: ProtInc
  • transport Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Hearing

Enzyme and pathway databases

BioCyciZFISH:ENSG00000165474-MONOMER.
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

HGNCiHGNC:4284. GJB2.

Subcellular locationi

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

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 1A (DFNB1A)17 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 rs111033190dbSNPEnsembl.1
Natural variantiVAR_00213937V → I in DFNB1A; was reported first as a polymorphism. 9 PublicationsCorresponds to variant rs72474224dbSNPEnsembl.1
Natural variantiVAR_00214177W → R in DFNB1A. 1 PublicationCorresponds to variant rs104894397dbSNPEnsembl.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 rs104894409dbSNPEnsembl.1
Natural variantiVAR_06080084V → M in DFNB1A; the mutant disrupts cellular communication. 1 PublicationCorresponds to variant rs104894409dbSNPEnsembl.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 rs80338945dbSNPEnsembl.1
Natural variantiVAR_02360993M → I in DFNB1A. 1 PublicationCorresponds to variant rs397516871dbSNPEnsembl.1
Natural variantiVAR_00214495V → M in DFNB1A. 1 PublicationCorresponds to variant rs111033299dbSNPEnsembl.1
Natural variantiVAR_002145113S → R in DFNB1A. 1 PublicationCorresponds to variant rs80338946dbSNPEnsembl.1
Natural variantiVAR_060801118Missing in DFNB1A. 1
Natural variantiVAR_023610120Missing in DFNB1A. 1 Publication1
Natural variantiVAR_023611129E → K in DFNB1A. 1 PublicationCorresponds to variant rs397516875dbSNPEnsembl.1
Natural variantiVAR_069520130G → A in DFNB1A. 1 Publication1
Natural variantiVAR_069521130G → D in DFNB1A. 1 PublicationCorresponds to variant rs779018464dbSNPEnsembl.1
Natural variantiVAR_015460143R → W in DFNB1A. 4 PublicationsCorresponds to variant rs80338948dbSNPEnsembl.1
Natural variantiVAR_015941159D → V in DFNB1A. 1 PublicationCorresponds to variant rs28931592dbSNPEnsembl.1
Natural variantiVAR_023613178V → A in DFNB1A. 1 PublicationCorresponds to variant rs568612627dbSNPEnsembl.1
Natural variantiVAR_015943184R → P in DFNB1A. 2 PublicationsCorresponds to variant rs80338950dbSNPEnsembl.1
Natural variantiVAR_009969184R → W in DFNB1A. 1 Publication1
Natural variantiVAR_023616203I → K in DFNB1A. 1 Publication1
Natural variantiVAR_023617214L → P in DFNB1A. 1 Publication1
Deafness, autosomal dominant, 3A (DFNA3A)6 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 rs104894407dbSNPEnsembl.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 rs104894413dbSNPEnsembl.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_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 rs104894402dbSNPEnsembl.1
Natural variantiVAR_015940143R → Q in DFNA3A. 1 PublicationCorresponds to variant rs104894401dbSNPEnsembl.1
Natural variantiVAR_032752179D → N in DFNA3A. 1 PublicationCorresponds to variant rs28931595dbSNPEnsembl.1
Natural variantiVAR_023614184R → Q in DFNA3A. 1 PublicationCorresponds to variant rs80338950dbSNPEnsembl.1
Natural variantiVAR_023615197A → S in DFNA3A. 1 Publication1
Natural variantiVAR_015944202C → F in DFNA3A. 1 PublicationCorresponds to variant rs104894406dbSNPEnsembl.1
Vohwinkel syndrome (VOWNKL)3 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_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 rs104894403dbSNPEnsembl.1
Natural variantiVAR_069522130G → V in VOWNKL. 2 Publications1
Keratoderma, palmoplantar, with deafness (PPKDFN)6 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 rs104894404dbSNPEnsembl.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 rs104894403dbSNPEnsembl.1
Natural variantiVAR_06079973H → R in PPKDFN; the mutant has a dominant-negative effect on connexin trafficking. 1 PublicationCorresponds to variant rs121912968dbSNPEnsembl.1
Natural variantiVAR_01593675R → Q in PPKDFN; the mutant protein completely prevents the formation of functional channels. 2 PublicationsCorresponds to variant rs28931593dbSNPEnsembl.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 rs104894402dbSNPEnsembl.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 rs104894408dbSNPEnsembl.1
Natural variantiVAR_01545417S → F in KID syndrome. 1 PublicationCorresponds to variant rs28929485dbSNPEnsembl.1
Natural variantiVAR_01545650D → N in KID syndrome and HID syndrome. 4 PublicationsCorresponds to variant rs28931594dbSNPEnsembl.1
Natural variantiVAR_01593550D → Y in KID syndrome. 1 PublicationCorresponds to variant rs28931594dbSNPEnsembl.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 rs104894412dbSNPEnsembl.1
Natural variantiVAR_03275159G → S in BPS. 1 PublicationCorresponds to variant rs104894410dbSNPEnsembl.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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01545650D → N in KID syndrome and HID syndrome. 4 PublicationsCorresponds to variant rs28931594dbSNPEnsembl.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi2706.
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

EPDiP29033.
PaxDbiP29033.
PeptideAtlasiP29033.
PRIDEiP29033.

PTM databases

iPTMnetiP29033.
PhosphoSitePlusiP29033.

Expressioni

Gene expression databases

BgeeiENSG00000165474.
ExpressionAtlasiP29033. baseline and differential.
GenevisibleiP29033. HS.

Organism-specific databases

HPAiCAB013093.

Interactioni

Subunit structurei

A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity).By similarity

Protein-protein interaction databases

BioGridi108972. 19 interactors.
DIPiDIP-59742N.
IntActiP29033. 14 interactors.
STRINGi9606.ENSP00000372295.

Structurei

Secondary structure

1226
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi5 – 11Combined sources7
Helixi21 – 41Combined sources21
Turni42 – 44Combined sources3
Turni47 – 50Combined sources4
Beta strandi52 – 54Combined sources3
Helixi60 – 68Combined sources9
Helixi73 – 83Combined sources11
Helixi87 – 94Combined sources8
Turni106 – 108Combined sources3
Turni126 – 130Combined sources5
Helixi136 – 155Combined sources20
Turni156 – 159Combined sources4
Beta strandi160 – 162Combined sources3
Beta strandi165 – 169Combined sources5
Beta strandi174 – 176Combined sources3
Beta strandi178 – 181Combined sources4
Helixi185 – 211Combined sources27

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...

Miscellaneous databases

EvolutionaryTraceiP29033.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IFM8. Eukaryota.
ENOG410Y7VN. LUCA.
GeneTreeiENSGT00860000133694.
HOVERGENiHBG009576.
InParanoidiP29033.
KOiK07621.
OMAiVMYDGFA.
OrthoDBiEOG091G0FKH.
PhylomeDBiP29033.
TreeFamiTF329606.

Family and domain databases

InterProiIPR000500. Connexin.
IPR002268. Connexin26.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 1 hit.
PfamiPF00029. Connexin. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
PR01139. CONNEXINB2.
SMARTiSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEiPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]

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 rs104894408dbSNPEnsembl.1
Natural variantiVAR_01545417S → F in KID syndrome. 1 PublicationCorresponds to variant rs28929485dbSNPEnsembl.1
Natural variantiVAR_00213727V → I.7 PublicationsCorresponds to variant rs2274084dbSNPEnsembl.1
Natural variantiVAR_02360532R → H in DFNB1A. 1 PublicationCorresponds to variant rs111033190dbSNPEnsembl.1
Natural variantiVAR_01683932R → L.1 PublicationCorresponds to variant rs111033190dbSNPEnsembl.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 rs35887622dbSNPEnsembl.1
Natural variantiVAR_00213937V → I in DFNB1A; was reported first as a polymorphism. 9 PublicationsCorresponds to variant rs72474224dbSNPEnsembl.1
Natural variantiVAR_00870944W → C in DFNA3A. 1 PublicationCorresponds to variant rs104894407dbSNPEnsembl.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 rs104894413dbSNPEnsembl.1
Natural variantiVAR_01545545G → E in deafness. 1 PublicationCorresponds to variant rs72561723dbSNPEnsembl.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 rs28931594dbSNPEnsembl.1
Natural variantiVAR_01593550D → Y in KID syndrome. 1 PublicationCorresponds to variant rs28931594dbSNPEnsembl.1
Natural variantiVAR_03275054N → K in BPS. 1 PublicationCorresponds to variant rs104894412dbSNPEnsembl.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 rs104894404dbSNPEnsembl.1
Natural variantiVAR_03275159G → S in BPS. 1 PublicationCorresponds to variant rs104894410dbSNPEnsembl.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 rs104894403dbSNPEnsembl.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 rs121912968dbSNPEnsembl.1
Natural variantiVAR_01593675R → Q in PPKDFN; the mutant protein completely prevents the formation of functional channels. 2 PublicationsCorresponds to variant rs28931593dbSNPEnsembl.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 rs104894402dbSNPEnsembl.1
Natural variantiVAR_00214177W → R in DFNB1A. 1 PublicationCorresponds to variant rs104894397dbSNPEnsembl.1
Natural variantiVAR_02360779L → P in DFNB1A. 1 Publication1
Natural variantiVAR_02360880Q → K in DFNB1A. 1 Publication1
Natural variantiVAR_00214283F → L.1 PublicationCorresponds to variant rs111033218dbSNPEnsembl.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 rs104894409dbSNPEnsembl.1
Natural variantiVAR_06080084V → M in DFNB1A; the mutant disrupts cellular communication. 1 PublicationCorresponds to variant rs104894409dbSNPEnsembl.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 rs80338945dbSNPEnsembl.1
Natural variantiVAR_02360993M → I in DFNB1A. 1 PublicationCorresponds to variant rs397516871dbSNPEnsembl.1
Natural variantiVAR_00214495V → M in DFNB1A. 1 PublicationCorresponds to variant rs111033299dbSNPEnsembl.1
Natural variantiVAR_015938111I → T.1 Publication1
Natural variantiVAR_002145113S → R in DFNB1A. 1 PublicationCorresponds to variant rs80338946dbSNPEnsembl.1
Natural variantiVAR_009966114E → G.5 PublicationsCorresponds to variant rs2274083dbSNPEnsembl.1
Natural variantiVAR_069519117D → H.1 Publication1
Natural variantiVAR_060801118Missing in DFNB1A. 1
Natural variantiVAR_023610120Missing in DFNB1A. 1 Publication1
Natural variantiVAR_015459123T → N.1 PublicationCorresponds to variant rs111033188dbSNPEnsembl.1
Natural variantiVAR_015939127R → H Very common polymorphism in India. 3 PublicationsCorresponds to variant rs111033196dbSNPEnsembl.1
Natural variantiVAR_023611129E → K in DFNB1A. 1 PublicationCorresponds to variant rs397516875dbSNPEnsembl.1
Natural variantiVAR_069520130G → A in DFNB1A. 1 Publication1
Natural variantiVAR_069521130G → D in DFNB1A. 1 PublicationCorresponds to variant rs779018464dbSNPEnsembl.1
Natural variantiVAR_069522130G → V in VOWNKL. 2 Publications1
Natural variantiVAR_069523142Missing .1 Publication1
Natural variantiVAR_015940143R → Q in DFNA3A. 1 PublicationCorresponds to variant rs104894401dbSNPEnsembl.1
Natural variantiVAR_015460143R → W in DFNB1A. 4 PublicationsCorresponds to variant rs80338948dbSNPEnsembl.1
Natural variantiVAR_069524148A → P.1 Publication1
Natural variantiVAR_009967153V → I May contribute to deafness. 3 PublicationsCorresponds to variant rs111033186dbSNPEnsembl.1
Natural variantiVAR_015941159D → V in DFNB1A. 1 PublicationCorresponds to variant rs28931592dbSNPEnsembl.1
Natural variantiVAR_002146160G → S.2 PublicationsCorresponds to variant rs34988750dbSNPEnsembl.1
Natural variantiVAR_015942165R → W.1 PublicationCorresponds to variant rs376898963dbSNPEnsembl.1
Natural variantiVAR_023612167V → M May contribute to deafness. 1 PublicationCorresponds to variant rs111033360dbSNPEnsembl.1
Natural variantiVAR_057959168K → R in a patient with congenital erythrokeratodermia; unknown pathological significance. 1 PublicationCorresponds to variant rs200104362dbSNPEnsembl.1
Natural variantiVAR_009968169C → Y.Corresponds to variant rs774518779dbSNPEnsembl.1
Natural variantiVAR_023613178V → A in DFNB1A. 1 PublicationCorresponds to variant rs568612627dbSNPEnsembl.1
Natural variantiVAR_032752179D → N in DFNA3A. 1 PublicationCorresponds to variant rs28931595dbSNPEnsembl.1
Natural variantiVAR_015943184R → P in DFNB1A. 2 PublicationsCorresponds to variant rs80338950dbSNPEnsembl.1
Natural variantiVAR_023614184R → Q in DFNA3A. 1 PublicationCorresponds to variant rs80338950dbSNPEnsembl.1
Natural variantiVAR_009969184R → W in DFNB1A. 1 Publication1
Natural variantiVAR_015461191F → L.1 PublicationCorresponds to variant rs397516878dbSNPEnsembl.1
Natural variantiVAR_023615197A → S in DFNA3A. 1 Publication1
Natural variantiVAR_015944202C → F in DFNA3A. 1 PublicationCorresponds to variant rs104894406dbSNPEnsembl.1
Natural variantiVAR_023616203I → K in DFNB1A. 1 Publication1
Natural variantiVAR_009970203I → T.2 PublicationsCorresponds to variant rs76838169dbSNPEnsembl.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. Translation: CAC16959.1.
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.
GeneIDi2706.
KEGGihsa:2706.
UCSCiuc001umy.4. human.

Keywords - Coding sequence diversityi

Polymorphism

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. Translation: CAC16959.1.
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. 19 interactors.
DIPiDIP-59742N.
IntActiP29033. 14 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

EPDiP29033.
PaxDbiP29033.
PeptideAtlasiP29033.
PRIDEiP29033.

Protocols and materials databases

DNASUi2706.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi2706.
DisGeNETi2706.
GeneCardsiGJB2.
GeneReviewsiGJB2.
HGNCiHGNC:4284. GJB2.
HPAiCAB013093.
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.
GeneTreeiENSGT00860000133694.
HOVERGENiHBG009576.
InParanoidiP29033.
KOiK07621.
OMAiVMYDGFA.
OrthoDBiEOG091G0FKH.
PhylomeDBiP29033.
TreeFamiTF329606.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000165474-MONOMER.
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.
PROiP29033.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165474.
ExpressionAtlasiP29033. baseline and differential.
GenevisibleiP29033. HS.

Family and domain databases

InterProiIPR000500. Connexin.
IPR002268. Connexin26.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 1 hit.
PfamiPF00029. Connexin. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
PR01139. CONNEXINB2.
SMARTiSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEiPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]
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 historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 1992
Last sequence update: October 11, 2005
Last modified: November 30, 2016
This is version 188 of the entry and version 3 of the sequence. [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

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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.