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P29033

- CXB2_HUMAN

UniProt

P29033 - CXB2_HUMAN

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Protein

Gap junction beta-2 protein

Gene

GJB2

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. gap junction channel activity Source: Ensembl

GO - Biological processi

  1. cell-cell signaling Source: ProtInc
  2. gap junction assembly Source: Reactome
  3. male genitalia development Source: Ensembl
  4. membrane organization Source: Reactome
  5. sensory perception of sound Source: ProtInc
  6. transport Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Hearing

Enzyme and pathway databases

ReactomeiREACT_11050. Transport of connexons to the plasma membrane.
REACT_9392. Transport of connexins along the secretory pathway.
REACT_9398. Oligomerization of connexins into connexons.
REACT_9509. Gap junction assembly.

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
ProteomesiUP000005640: Chromosome 13

Organism-specific databases

HGNCiHGNC:4284. GJB2.

Subcellular locationi

GO - Cellular componenti

  1. connexon complex Source: ProtInc
  2. endoplasmic reticulum-Golgi intermediate compartment Source: Reactome
  3. integral component of membrane Source: UniProtKB-KW
  4. lateral plasma membrane Source: Ensembl
  5. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]: A 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.17 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti32 – 321R → H in DFNB1A. 1 Publication
VAR_023605
Natural varianti37 – 371V → I in DFNB1A; was reported first as a polymorphism. 8 Publications
Corresponds to variant rs72474224 [ dbSNP | Ensembl ].
VAR_002139
Natural varianti77 – 771W → R in DFNB1A. 1 Publication
VAR_002141
Natural varianti79 – 791L → P in DFNB1A. 1 Publication
VAR_023607
Natural varianti80 – 801Q → K in DFNB1A. 1 Publication
VAR_023608
Natural varianti84 – 841V → 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. 1 Publication
VAR_002143
Natural varianti84 – 841V → M in DFNB1A; the mutant disrupts cellular communication. 1 Publication
VAR_060800
Natural varianti86 – 861T → 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
VAR_015458
Natural varianti90 – 901L → P in DFNB1A. 2 Publications
VAR_015937
Natural varianti93 – 931M → I in DFNB1A. 1 Publication
VAR_023609
Natural varianti95 – 951V → M in DFNB1A. 1 Publication
VAR_002144
Natural varianti113 – 1131S → R in DFNB1A. 1 Publication
VAR_002145
Natural varianti118 – 1181Missing in DFNB1A.
VAR_060801
Natural varianti120 – 1201Missing in DFNB1A. 1 Publication
VAR_023610
Natural varianti129 – 1291E → K in DFNB1A. 1 Publication
VAR_023611
Natural varianti130 – 1301G → A in DFNB1A. 1 Publication
VAR_069520
Natural varianti130 – 1301G → D in DFNB1A. 1 Publication
VAR_069521
Natural varianti143 – 1431R → W in DFNB1A. 4 Publications
VAR_015460
Natural varianti159 – 1591D → V in DFNB1A. 1 Publication
Corresponds to variant rs28931592 [ dbSNP | Ensembl ].
VAR_015941
Natural varianti178 – 1781V → A in DFNB1A. 1 Publication
VAR_023613
Natural varianti184 – 1841R → P in DFNB1A. 2 Publications
VAR_015943
Natural varianti184 – 1841R → W in DFNB1A. 1 Publication
VAR_009969
Natural varianti203 – 2031I → K in DFNB1A. 1 Publication
VAR_023616
Natural varianti214 – 2141L → P in DFNB1A. 1 Publication
VAR_023617
Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]: A 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.6 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti44 – 441W → C in DFNA3A. 1 Publication
VAR_008709
Natural varianti44 – 441W → S in DFNA3A; does not affect protein trafficking; affects the ability to form functional channels; dominant negative effect.
VAR_032749
Natural varianti46 – 461D → 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
VAR_060798
Natural varianti75 – 751R → W in PPKDFN and DFNA3A; does not affect protein trafficking; affects the ability to form functional channels; dominant negative effect. 1 Publication
VAR_002140
Natural varianti143 – 1431R → Q in DFNA3A. 1 Publication
VAR_015940
Natural varianti179 – 1791D → N in DFNA3A. 1 Publication
Corresponds to variant rs28931595 [ dbSNP | Ensembl ].
VAR_032752
Natural varianti184 – 1841R → Q in DFNA3A. 1 Publication
VAR_023614
Natural varianti197 – 1971A → S in DFNA3A. 1 Publication
VAR_023615
Natural varianti202 – 2021C → F in DFNA3A. 1 Publication
VAR_015944
Vohwinkel syndrome (VS) [MIM:124500]: VS is an autosomal dominant disease characterized by hyperkeratosis, constriction on fingers and toes and congenital deafness.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti66 – 661D → H in VS and PPKDFN; impairs trafficking; localizes intracellularly closed to the nucleus; affects the ability to form functional channels; phenotype can be rescued by coexpression with wild-type protein. 2 Publications
VAR_008710
Natural varianti130 – 1301G → V in VS. 2 Publications
VAR_069522
Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350]: An autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high-frequency, sensorineural deafness.6 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti59 – 591G → 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. 1 Publication
VAR_009965
Natural varianti66 – 661D → H in VS and PPKDFN; impairs trafficking; localizes intracellularly closed to the nucleus; affects the ability to form functional channels; phenotype can be rescued by coexpression with wild-type protein. 2 Publications
VAR_008710
Natural varianti73 – 731H → R in PPKDFN; the mutant has a dominant-negative effect on connexin trafficking. 1 Publication
VAR_060799
Natural varianti75 – 751R → Q in PPKDFN; the mutant protein completely prevents the formation of functional channels. 2 Publications
VAR_015936
Natural varianti75 – 751R → W in PPKDFN and DFNA3A; does not affect protein trafficking; affects the ability to form functional channels; dominant negative effect. 1 Publication
VAR_002140
Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210]: An 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.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 121G → R in KID syndrome. 1 Publication
VAR_015453
Natural varianti17 – 171S → F in KID syndrome. 1 Publication
Corresponds to variant rs28929485 [ dbSNP | Ensembl ].
VAR_015454
Natural varianti50 – 501D → N in KID syndrome and HID syndrome. 4 Publications
Corresponds to variant rs28931594 [ dbSNP | Ensembl ].
VAR_015456
Natural varianti50 – 501D → Y in KID syndrome. 1 Publication
VAR_015935
Bart-Pumphrey syndrome (BPS) [MIM:149200]: An autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti54 – 541N → K in BPS. 1 Publication
VAR_032750
Natural varianti59 – 591G → S in BPS. 1 Publication
VAR_032751
Ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:602540]: An 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti50 – 501D → N in KID syndrome and HID syndrome. 4 Publications
Corresponds to variant rs28931594 [ dbSNP | Ensembl ].
VAR_015456

Keywords - Diseasei

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

Organism-specific databases

MIMi124500. phenotype.
148210. phenotype.
148350. phenotype.
149200. phenotype.
220290. phenotype.
601544. phenotype.
602540. phenotype.
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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 226226Gap junction beta-2 proteinPRO_0000057855Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi53 ↔ 1801 Publication
Disulfide bondi60 ↔ 1741 Publication
Disulfide bondi64 ↔ 1691 Publication

Keywords - PTMi

Disulfide bond

Proteomic databases

PaxDbiP29033.
PRIDEiP29033.

PTM databases

PhosphoSiteiP29033.

Expressioni

Gene expression databases

BgeeiP29033.
ExpressionAtlasiP29033. baseline and differential.
GenevestigatoriP29033.

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. 6 interactions.
DIPiDIP-59742N.
IntActiP29033. 1 interaction.

Structurei

Secondary structure

1
226
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi5 – 117
Helixi22 – 4322
Helixi46 – 494
Beta strandi52 – 543
Helixi60 – 667
Helixi73 – 8311
Helixi85 – 10521
Turni106 – 1083
Turni126 – 1305
Helixi131 – 15626
Turni157 – 1593
Beta strandi160 – 1623
Beta strandi165 – 1695
Beta strandi174 – 1818
Helixi185 – 21531

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
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[»]
ProteinModelPortaliP29033.
SMRiP29033. Positions 2-217.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP29033.

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2020CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini41 – 7535ExtracellularSequence AnalysisAdd
BLAST
Topological domaini99 – 13133CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini155 – 19238ExtracellularSequence AnalysisAdd
BLAST
Topological domaini216 – 22611CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei21 – 4020HelicalSequence AnalysisAdd
BLAST
Transmembranei76 – 9823HelicalSequence AnalysisAdd
BLAST
Transmembranei132 – 15423HelicalSequence AnalysisAdd
BLAST
Transmembranei193 – 21523HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG39645.
GeneTreeiENSGT00760000118780.
HOVERGENiHBG009576.
InParanoidiP29033.
KOiK07621.
OMAiMYVFYIM.
OrthoDBiEOG7P2XSS.
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.
PF10582. Connexin_CCC. 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 [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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti86 – 861T → S in AAD21314. (PubMed:1324944)Curated
Sequence conflicti112 – 1121K → N in AAY25170. (PubMed:15666300)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 121G → R in KID syndrome. 1 Publication
VAR_015453
Natural varianti17 – 171S → F in KID syndrome. 1 Publication
Corresponds to variant rs28929485 [ dbSNP | Ensembl ].
VAR_015454
Natural varianti27 – 271V → I.7 Publications
Corresponds to variant rs2274084 [ dbSNP | Ensembl ].
VAR_002137
Natural varianti32 – 321R → H in DFNB1A. 1 Publication
VAR_023605
Natural varianti32 – 321R → L.1 Publication
VAR_016839
Natural varianti34 – 341M → 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. 2 Publications
Corresponds to variant rs35887622 [ dbSNP | Ensembl ].
VAR_002138
Natural varianti37 – 371V → I in DFNB1A; was reported first as a polymorphism. 8 Publications
Corresponds to variant rs72474224 [ dbSNP | Ensembl ].
VAR_002139
Natural varianti44 – 441W → C in DFNA3A. 1 Publication
VAR_008709
Natural varianti44 – 441W → S in DFNA3A; does not affect protein trafficking; affects the ability to form functional channels; dominant negative effect.
VAR_032749
Natural varianti45 – 451G → E in deafness. 1 Publication
VAR_015455
Natural varianti46 – 483DEQ → E May contribute to deafness. 1 Publication
VAR_023606
Natural varianti46 – 461D → 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
VAR_060798
Natural varianti50 – 501D → N in KID syndrome and HID syndrome. 4 Publications
Corresponds to variant rs28931594 [ dbSNP | Ensembl ].
VAR_015456
Natural varianti50 – 501D → Y in KID syndrome. 1 Publication
VAR_015935
Natural varianti54 – 541N → K in BPS. 1 Publication
VAR_032750
Natural varianti59 – 591G → 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. 1 Publication
VAR_009965
Natural varianti59 – 591G → S in BPS. 1 Publication
VAR_032751
Natural varianti66 – 661D → H in VS and PPKDFN; impairs trafficking; localizes intracellularly closed to the nucleus; affects the ability to form functional channels; phenotype can be rescued by coexpression with wild-type protein. 2 Publications
VAR_008710
Natural varianti71 – 711I → T in deafness. 1 Publication
VAR_015457
Natural varianti73 – 731H → R in PPKDFN; the mutant has a dominant-negative effect on connexin trafficking. 1 Publication
VAR_060799
Natural varianti75 – 751R → Q in PPKDFN; the mutant protein completely prevents the formation of functional channels. 2 Publications
VAR_015936
Natural varianti75 – 751R → W in PPKDFN and DFNA3A; does not affect protein trafficking; affects the ability to form functional channels; dominant negative effect. 1 Publication
VAR_002140
Natural varianti77 – 771W → R in DFNB1A. 1 Publication
VAR_002141
Natural varianti79 – 791L → P in DFNB1A. 1 Publication
VAR_023607
Natural varianti80 – 801Q → K in DFNB1A. 1 Publication
VAR_023608
Natural varianti83 – 831F → L.1 Publication
Corresponds to variant rs111033218 [ dbSNP | Ensembl ].
VAR_002142
Natural varianti84 – 841V → 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. 1 Publication
VAR_002143
Natural varianti84 – 841V → M in DFNB1A; the mutant disrupts cellular communication. 1 Publication
VAR_060800
Natural varianti86 – 861T → 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
VAR_015458
Natural varianti90 – 901L → P in DFNB1A. 2 Publications
VAR_015937
Natural varianti93 – 931M → I in DFNB1A. 1 Publication
VAR_023609
Natural varianti95 – 951V → M in DFNB1A. 1 Publication
VAR_002144
Natural varianti111 – 1111I → T.1 Publication
VAR_015938
Natural varianti113 – 1131S → R in DFNB1A. 1 Publication
VAR_002145
Natural varianti114 – 1141E → G.5 Publications
Corresponds to variant rs2274083 [ dbSNP | Ensembl ].
VAR_009966
Natural varianti117 – 1171D → H.1 Publication
VAR_069519
Natural varianti118 – 1181Missing in DFNB1A.
VAR_060801
Natural varianti120 – 1201Missing in DFNB1A. 1 Publication
VAR_023610
Natural varianti123 – 1231T → N.1 Publication
Corresponds to variant rs111033188 [ dbSNP | Ensembl ].
VAR_015459
Natural varianti127 – 1271R → H Very common polymorphism in India. 3 Publications
Corresponds to variant rs111033196 [ dbSNP | Ensembl ].
VAR_015939
Natural varianti129 – 1291E → K in DFNB1A. 1 Publication
VAR_023611
Natural varianti130 – 1301G → A in DFNB1A. 1 Publication
VAR_069520
Natural varianti130 – 1301G → D in DFNB1A. 1 Publication
VAR_069521
Natural varianti130 – 1301G → V in VS. 2 Publications
VAR_069522
Natural varianti142 – 1421Missing.1 Publication
VAR_069523
Natural varianti143 – 1431R → Q in DFNA3A. 1 Publication
VAR_015940
Natural varianti143 – 1431R → W in DFNB1A. 4 Publications
VAR_015460
Natural varianti148 – 1481A → P.1 Publication
VAR_069524
Natural varianti153 – 1531V → I May contribute to deafness. 3 Publications
Corresponds to variant rs111033186 [ dbSNP | Ensembl ].
VAR_009967
Natural varianti159 – 1591D → V in DFNB1A. 1 Publication
Corresponds to variant rs28931592 [ dbSNP | Ensembl ].
VAR_015941
Natural varianti160 – 1601G → S.2 Publications
Corresponds to variant rs34988750 [ dbSNP | Ensembl ].
VAR_002146
Natural varianti165 – 1651R → W.1 Publication
VAR_015942
Natural varianti167 – 1671V → M May contribute to deafness. 1 Publication
VAR_023612
Natural varianti168 – 1681K → R in a patient with congenital erythrokeratodermia; unknown pathological significance. 1 Publication
Corresponds to variant rs200104362 [ dbSNP | Ensembl ].
VAR_057959
Natural varianti169 – 1691C → Y.
VAR_009968
Natural varianti178 – 1781V → A in DFNB1A. 1 Publication
VAR_023613
Natural varianti179 – 1791D → N in DFNA3A. 1 Publication
Corresponds to variant rs28931595 [ dbSNP | Ensembl ].
VAR_032752
Natural varianti184 – 1841R → P in DFNB1A. 2 Publications
VAR_015943
Natural varianti184 – 1841R → Q in DFNA3A. 1 Publication
VAR_023614
Natural varianti184 – 1841R → W in DFNB1A. 1 Publication
VAR_009969
Natural varianti191 – 1911F → L.1 Publication
VAR_015461
Natural varianti197 – 1971A → S in DFNA3A. 1 Publication
VAR_023615
Natural varianti202 – 2021C → F in DFNA3A. 1 Publication
VAR_015944
Natural varianti203 – 2031I → K in DFNB1A. 1 Publication
VAR_023616
Natural varianti203 – 2031I → T.2 Publications
Corresponds to variant rs76838169 [ dbSNP | Ensembl ].
VAR_009970
Natural varianti214 – 2141L → P in DFNB1A. 1 Publication
VAR_023617

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_005266411.1. XM_005266354.1.
XP_005266412.1. XM_005266355.1.
XP_005266413.1. XM_005266356.1.
UniGeneiHs.524894.
Hs.714494.

Genome annotation databases

EnsembliENST00000382844; ENSP00000372295; ENSG00000165474.
ENST00000382848; ENSP00000372299; ENSG00000165474.
GeneIDi2706.
KEGGihsa:2706.
UCSCiuc001umy.3. human.

Polymorphism databases

DMDMi77416855.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Connexin-deafness homepage
Hereditary hearing loss homepage

Gene page

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS9290.1.
PIRi A43424.
RefSeqi NP_003995.2. NM_004004.5.
XP_005266411.1. XM_005266354.1.
XP_005266412.1. XM_005266355.1.
XP_005266413.1. XM_005266356.1.
UniGenei Hs.524894.
Hs.714494.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
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 [» ]
ProteinModelPortali P29033.
SMRi P29033. Positions 2-217.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108972. 6 interactions.
DIPi DIP-59742N.
IntActi P29033. 1 interaction.

Chemistry

GuidetoPHARMACOLOGYi 716.

Protein family/group databases

TCDBi 1.A.24.1.3. the gap junction-forming connexin (connexin) family.

PTM databases

PhosphoSitei P29033.

Polymorphism databases

DMDMi 77416855.

Proteomic databases

PaxDbi P29033.
PRIDEi P29033.

Protocols and materials databases

DNASUi 2706.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000382844 ; ENSP00000372295 ; ENSG00000165474 .
ENST00000382848 ; ENSP00000372299 ; ENSG00000165474 .
GeneIDi 2706.
KEGGi hsa:2706.
UCSCi uc001umy.3. human.

Organism-specific databases

CTDi 2706.
GeneCardsi GC13M020761.
GeneReviewsi GJB2.
HGNCi HGNC:4284. GJB2.
HPAi CAB013093.
MIMi 121011. gene.
124500. phenotype.
148210. phenotype.
148350. phenotype.
149200. phenotype.
220290. phenotype.
601544. phenotype.
602540. phenotype.
neXtProti NX_P29033.
Orphaneti 90635. 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.
PharmGKBi PA28695.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG39645.
GeneTreei ENSGT00760000118780.
HOVERGENi HBG009576.
InParanoidi P29033.
KOi K07621.
OMAi MYVFYIM.
OrthoDBi EOG7P2XSS.
PhylomeDBi P29033.
TreeFami TF329606.

Enzyme and pathway databases

Reactomei REACT_11050. Transport of connexons to the plasma membrane.
REACT_9392. Transport of connexins along the secretory pathway.
REACT_9398. Oligomerization of connexins into connexons.
REACT_9509. Gap junction assembly.

Miscellaneous databases

EvolutionaryTracei P29033.
GeneWikii GJB2.
GenomeRNAii 2706.
NextBioi 10698.
PROi P29033.
SOURCEi Search...

Gene expression databases

Bgeei P29033.
ExpressionAtlasi P29033. baseline and differential.
Genevestigatori P29033.

Family and domain databases

InterProi IPR000500. Connexin.
IPR002268. Connexin26.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view ]
PANTHERi PTHR11984. PTHR11984. 1 hit.
Pfami PF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view ]
PRINTSi PR00206. CONNEXIN.
PR01139. CONNEXINB2.
SMARTi SM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view ]
PROSITEi PS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Transcriptional downregulation of gap-junction proteins blocks junctional communication in human mammary tumor cell lines."
    Lee S.W., Tomasetto C., Paul D., Keyomarsi K., Sager R.
    J. Cell Biol. 118:1213-1221(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana."
    Hamelmann C., Amedofu G.K., Albrecht K., Muntau B., Gelhaus A., Brobby G.W., Horstmann R.D.
    Hum. Mutat. 18:84-85(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS DFNB1A PRO-79; TRP-143; ALA-178; LYS-203 AND PRO-214, VARIANTS DFNA3A GLN-184 AND SER-197.
    Tissue: Blood.
  3. "Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants."
    Gasmelseed N.M.A., Schmidt M., Magzoub M.M.A., Macharia M., Elmustafa O.M., Ototo B., Winkler E., Ruge G., Horstmann R.D., Meyer C.G.
    Hum. Mutat. 23:206-207(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT DFNB1A ILE-37, VARIANTS 46-ASP--GLN-48 DELINS GLU; HIS-127; ILE-153; SER-160 AND MET-167.
  4. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS DFNB1A HIS-32; LYS-80; ILE-93; GLU-120 DEL; LYS-129; TRP-143 AND PRO-184, VARIANTS ILE-27; GLY-114; HIS-127 AND ILE-153.
  5. "A polymorphism in the genomic sequence of the coding region of connexin 26 in the South Indian population."
    Joseph A.Y., Rasool T.J.
    Submitted (FEB-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  6. "A novel mutation in the connexin 26 gene in the South Indian population."
    Joseph A.Y., Rasool T.J.
    Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT LEU-32.
  7. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  8. "The DNA sequence and analysis of human chromosome 13."
    Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
    Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS ILE-27 AND GLY-114.
    Tissue: Colon.
  10. Cited for: INVOLVEMENT IN DFNB1A.
  11. "Structure of the connexin 26 gap junction channel at 3.5 A resolution."
    Maeda S., Nakagawa S., Suga M., Yamashita E., Oshima A., Fujiyoshi Y., Tsukihara T.
    Nature 458:597-602(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (3.5 ANGSTROMS), SUBUNIT, DISULFIDE BONDS.
  12. "Connexin 26 mutations in hereditary non-syndromic sensorineural deafness."
    Kelsell D.P., Dunlop J., Stevens H.P., Lench N.J., Liang J.N., Parry G., Mueller R.F., Leigh I.M.
    Nature 387:80-83(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT THR-34.
  13. Cited for: SHOWS THAT VARIANT THR-34 IS NOT A CAUSE OF DEAFNESS.
  14. "Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations."
    Carrasquillo M.M., Zlotogora J., Barges S., Chakravarti A.
    Hum. Mol. Genet. 6:2163-2172(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DFNB1A ARG-77.
  15. Cited for: VARIANTS DFNB1A GLU-118 DEL AND PRO-184.
  16. "Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss."
    Kelley P.M., Harris D.J., Comer B.C., Askew J.W., Fowler T., Smith S.D., Kimberling W.J.
    Am. J. Hum. Genet. 62:792-799(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS DFNB1A LEU-84; MET-95 AND ARG-113, VARIANTS ILE-27 AND ILE-37.
  17. "Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma."
    Richard G., White T.W., Smith L.E., Bailey R.A., Compton J.G., Paul D.L., Bale S.J.
    Hum. Genet. 103:393-399(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PPKDFN TRP-75.
  18. Cited for: VARIANTS THR-34; LEU-83 AND SER-160.
  19. Cited for: VARIANT DFNA3A CYS-44.
  20. "Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa."
    Brobby G.W., Muller-Myhsok B., Horstmann R.D.
    N. Engl. J. Med. 338:548-550(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DFNB1A TRP-143.
  21. "A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families."
    Maestrini E., Korge B.P., Ocana-Sierra J., Calzolari E., Cambiaghi S., Scudder P.M., Hovnanian A., Monaco A.P., Munro C.S.
    Hum. Mol. Genet. 8:1237-1243(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT VS HIS-66.
  22. "Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population."
    Kudo T., Ikeda K., Kure S., Matsubara Y., Oshima T., Watanabe K., Kawase T., Narisawa K., Takasaka T.
    Am. J. Med. Genet. 90:141-145(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ILE-27; ILE-37; GLY-114 AND THR-203.
  23. "Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family."
    Kelsell D.P., Wilgoss A.L., Richard G., Stevens H.P., Munro C.S., Leigh I.M.
    Eur. J. Hum. Genet. 8:141-144(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PPKDFN HIS-66.
  24. Cited for: VARIANTS DFNB1A ILE-37; PRO-90 AND TRP-184.
  25. "A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)."
    Heathcote K., Syrris P., Carter N.D., Patton M.A.
    J. Med. Genet. 37:50-51(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PPKDFN ALA-59.
  26. "A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss."
    Morle L., Bozon M., Alloisio N., Latour P., Vandenberghe A., Plauchu H., Collet L., Edery P., Godet J., Lina-Granade G.
    J. Med. Genet. 37:368-370(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DFNA3A PHE-202.
  27. "Sensorineural hearing loss and the incidence of Cx26 mutations in Austria."
    Loffler J., Nekahm D., Hirst-Stadlmann A., Gunther B., Menzel H.J., Utermann G., Janecke A.R.
    Eur. J. Hum. Genet. 9:226-230(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DFNB1A PRO-90, VARIANT DFNA3A GLN-143.
  28. "Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome."
    Richard G., Rouan F., Willoughby C.E., Brown N., Chung P., Ryynanen M., Jabs E.W., Bale S.J., DiGiovanna J.J., Uitto J., Russell L.
    Am. J. Hum. Genet. 70:1341-1348(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS KID SYNDROME ARG-12; PHE-17 AND ASN-50.
  29. Cited for: VARIANT DFNB1A VAL-159.
  30. "HID and KID syndromes are associated with the same connexin 26 mutation."
    van Geel M., van Steensel M.A.M., Kuester W., Hennies H.C., Happle R., Steijlen P.M., Koenig A.
    Br. J. Dermatol. 146:938-942(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HID SYNDROME ASN-50.
  31. "Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss."
    Bason L., Dudley T., Lewis K., Shah U., Potsic W., Ferraris A., Fortina P., Rappaport E., Krantz I.D.
    Clin. Genet. 61:459-464(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DFNB1A ILE-37.
  32. "The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family."
    Uyguner O., Tukel T., Baykal C., Eris H., Emiroglu M., Hafiz G., Ghanbari A., Baserer N., Yuksel-Apak M., Wollnik B.
    Clin. Genet. 62:306-309(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PPKDFN GLN-75.
  33. "De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome."
    Alvarez A., Del Castillo I., Pera A., Villamar M., Moreno-Pelayo M.A., Moreno F., Moreno R., Tapia M.C.
    Am. J. Med. Genet. A 117:89-91(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT KID SYNDROME ASN-50.
  34. "Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome."
    Yotsumoto S., Hashiguchi T., Chen X., Ohtake N., Tomitaka A., Akamatsu H., Matsunaga K., Shiraishi S., Miura H., Adachi J., Kanzaki T.
    Br. J. Dermatol. 148:649-653(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS KID SYNDROME ASN-50 AND TYR-50.
  35. "A novel dominant missense mutation -- D179N -- in the GJB2 gene (connexin 26) associated with non-syndromic hearing loss."
    Primignani P., Castorina P., Sironi F., Curcio C., Ambrosetti U., Coviello D.A.
    Clin. Genet. 63:516-521(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DFNA3A ASN-179, VARIANT DFNB1A ILE-37.
  36. "GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation."
    Ohtsuka A., Yuge I., Kimura S., Namba A., Abe S., Van Laer L., Van Camp G., Usami S.
    Hum. Genet. 112:329-333(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS DEAFNESS GLU-45; THR-71; ARG-86 AND TRP-143, VARIANTS ILE-27; ILE-37; GLY-114; ASN-123; LEU-191 AND THR-203.
  37. "Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30."
    Marziano N.K., Casalotti S.O., Portelli A.E., Becker D.L., Forge A.
    Hum. Mol. Genet. 12:805-812(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS DFNA3A SER-44 AND TRP-75, CHARACTERIZATION OF VARIANT PPKDFN ALA-59, CHARACTERIZATION OF VARIANT VS HIS-66.
  38. "Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India."
    Ramshankar M., Girirajan S., Dagan O., Ravi Shankar H.M., Jalvi R., Rangasayee R., Avraham K.B., Anand A.
    J. Med. Genet. 40:E68-E68(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ILE-27; THR-111; GLY-114; HIS-127; ILE-153 AND TRP-165.
  39. Cited for: NON-PATHOGENIC ROLE OF VARIANT THR-34.
  40. "Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2."
    Richard G., Brown N., Ishida-Yamamoto A., Krol A.
    J. Invest. Dermatol. 123:856-863(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BPS LYS-54.
  41. "G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome."
    Alexandrino F., Sartorato E.L., Marques-de-Faria A.P., Steiner C.E.
    Am. J. Med. Genet. A 136:282-284(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BPS SER-59.
  42. "Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss."
    Piazza V., Beltramello M., Menniti M., Colao E., Malatesta P., Argento R., Chiarella G., Gallo L.V., Catalano M., Perrotti N., Mammano F., Cassandro E.
    Clin. Genet. 68:161-166(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PPKDFN GLN-75, CHARACTERIZATION OF VARIANT PPKDFN GLN-75.
  43. "Mutation analysis of the GJB2 (connexin 26) gene in Egypt."
    Snoeckx R.L., Hassan D.M., Kamal N.M., Van Den Bogaert K., Van Camp G.
    Hum. Mutat. 26:60-61(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT VS VAL-130, VARIANTS HIS-117; PHE-142 DEL AND PRO-148.
  44. "Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness."
    Beltramello M., Piazza V., Bukauskas F.F., Pozzan T., Mammano F.
    Nat. Cell Biol. 7:63-69(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANT DFNB1A LEU-84.
  45. Cited for: CHARACTERIZATION OF VARIANT THR-34, PATHOGENIC ROLE OF VARIANT THR-34.
  46. "M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance."
    Pollak A., Skorka A., Mueller-Malesinska M., Kostrzewa G., Kisiel B., Waligora J., Krajewski P., Oldak M., Korniszewski L., Skarzynski H., Ploski R.
    Am. J. Med. Genet. A 143:2534-2543(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: POSSIBLE PATHOGENICITY OF VARIANTS THR-34 AND ILE-37.
  47. Cited for: VARIANT DFNB1A ASP-130.
  48. "A novel hearing-loss-related mutation occurring in the GJB2 basal promoter."
    Matos T.D., Caria H., Simoes-Teixeira H., Aasen T., Nickel R., Jagger D.J., O'Neill A., Kelsell D.P., Fialho G.
    J. Med. Genet. 44:721-725(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DFNB1A MET-84, CHARACTERIZATION OF VARIANT DFNB1A MET-84.
  49. "A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness."
    de Zwart-Storm E.A., Hamm H., Stoevesandt J., Steijlen P.M., Martin P.E., van Geel M., van Steensel M.A.M.
    J. Med. Genet. 45:161-166(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PPKDFN ARG-73, CHARACTERIZATION OF VARIANT PPKDFN ARG-73.
  50. "Connexin mutations in Brazilian patients with skin disorders with or without hearing loss."
    Alexandrino F., de Oliveira C.A., Magalhaes R.F., Florence M.E., de Souza E.M., Sartorato E.L.
    Am. J. Med. Genet. A 149:681-684(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARG-168.
  51. "New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma."
    Iossa S., Chinetti V., Auletta G., Laria C., De Luca M., Rienzo M., Giannini P., Delfino M., Ciccodicola A., Marciano E., Franze A.
    Am. J. Med. Genet. A 149:685-688(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT VS VAL-130.
  52. "Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss."
    Nemoto-Hasebe I., Akiyama M., Kudo S., Ishiko A., Tanaka A., Arita K., Shimizu H.
    Br. J. Dermatol. 161:452-455(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ILE-27.
  53. "Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss."
    Choi S.-Y., Park H.-J., Lee K.Y., Dinh E.H., Chang Q., Ahmad S., Lee S.H., Bok J., Lin X., Kim U.-K.
    Hum. Mutat. 30:E716-E727(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DFNA3A GLU-46, VARIANT DFNB1A ARG-86, CHARACTERIZATION OF VARIANT DFNA3A GLU-46, CHARACTERIZATION OF VARIANT DFNB1A ARG-86.
  54. "Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss."
    Riahi Z., Hammami H., Ouragini H., Messai H., Zainine R., Bouyacoub Y., Romdhane L., Essaid D., Kefi R., Rhimi M., Bedoui M., Dhaouadi A., Feldmann D., Jonard L., Besbes G., Abdelhak S.
    Gene 525:1-4(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS DFNB1A ILE-37 AND ALA-130.

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: October 29, 2014
This is version 168 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

External Data

Dasty 3