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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

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)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2020CytoplasmicSequence analysisAdd
BLAST
Transmembranei21 – 4020HelicalSequence analysisAdd
BLAST
Topological domaini41 – 7535ExtracellularSequence analysisAdd
BLAST
Transmembranei76 – 9823HelicalSequence analysisAdd
BLAST
Topological domaini99 – 13133CytoplasmicSequence analysisAdd
BLAST
Transmembranei132 – 15423HelicalSequence analysisAdd
BLAST
Topological domaini155 – 19238ExtracellularSequence analysisAdd
BLAST
Transmembranei193 – 21523HelicalSequence analysisAdd
BLAST
Topological domaini216 – 22611CytoplasmicSequence analysisAdd
BLAST

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)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. 9 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. 2 Publications
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)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)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. 1 Publication
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. 2 Publications
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)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionVS is an autosomal dominant disease characterized by hyperkeratosis, constriction on fingers and toes and congenital deafness.
See also OMIM:124500
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. 3 Publications
VAR_008710
Natural varianti130 – 1301G → V in VS. 2 Publications
VAR_069522
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)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. 2 Publications
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. 3 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. 2 Publications
VAR_002140
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)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)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)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)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)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

MalaCardsiGJB2.
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.

Polymorphism and mutation databases

BioMutaiGJB2.
DMDMi77416855.

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

EPDiP29033.
PaxDbiP29033.
PeptideAtlasiP29033.
PRIDEiP29033.

PTM databases

iPTMnetiP29033.
PhosphoSiteiP29033.

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 interactions.
DIPiDIP-59742N.
IntActiP29033. 14 interactions.
STRINGi9606.ENSP00000372295.

Structurei

Secondary structure

1
226
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi5 – 117Combined sources
Helixi21 – 4121Combined sources
Turni42 – 443Combined sources
Turni47 – 504Combined sources
Beta strandi52 – 543Combined sources
Helixi60 – 689Combined sources
Helixi73 – 8311Combined sources
Helixi87 – 948Combined sources
Turni106 – 1083Combined sources
Turni126 – 1305Combined sources
Helixi136 – 15520Combined sources
Turni156 – 1594Combined sources
Beta strandi160 – 1623Combined sources
Beta strandi165 – 1695Combined sources
Beta strandi174 – 1763Combined sources
Beta strandi178 – 1814Combined sources
Helixi185 – 21127Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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[»]
5ER7X-ray3.29A/B1-226[»]
5ERAX-ray3.80A/B1-226[»]
ProteinModelPortaliP29033.
SMRiP29033. Positions 2-217.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP29033.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IFM8. Eukaryota.
ENOG410Y7VN. LUCA.
GeneTreeiENSGT00840000129674.
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)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. 5 Publications
Corresponds to variant rs35887622 [ dbSNP | Ensembl ].
VAR_002138
Natural varianti37 – 371V → I in DFNB1A; was reported first as a polymorphism. 9 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. 1 Publication
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. 2 Publications
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. 3 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. 2 Publications
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. 2 Publications
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:
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
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[»]
ProteinModelPortaliP29033.
SMRiP29033. Positions 2-217.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

Protein family/group databases

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

PTM databases

iPTMnetiP29033.
PhosphoSiteiP29033.

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.
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.
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.
GeneTreeiENSGT00840000129674.
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.
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: September 7, 2016
This is version 185 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.