Details for: GJB2

Gene ID: 2706

Symbol: GJB2

Ensembl ID: ENSG00000165474

Description: gap junction protein beta 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 22.7442
    Cell Significance Index: -9.2400
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 16.6686
    Cell Significance Index: -11.1900
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: 11.6409
    Cell Significance Index: 100.0300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 4.7147
    Cell Significance Index: -12.6300
  • Cell Name: epithelial cell of lacrimal sac (CL1000436)
    Fold Change: 3.3379
    Cell Significance Index: 24.0200
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.8314
    Cell Significance Index: 26.0700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.6345
    Cell Significance Index: 22.3000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.5400
    Cell Significance Index: 80.0000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.3297
    Cell Significance Index: 253.0400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.1489
    Cell Significance Index: 113.6500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.8101
    Cell Significance Index: 22.6400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.7912
    Cell Significance Index: 47.5000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.7407
    Cell Significance Index: 327.4700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5497
    Cell Significance Index: 496.3700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5462
    Cell Significance Index: 88.8400
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.4985
    Cell Significance Index: 7.4700
  • Cell Name: monocyte-derived dendritic cell (CL0011031)
    Fold Change: 0.4930
    Cell Significance Index: 8.4700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.4341
    Cell Significance Index: 19.6800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.4238
    Cell Significance Index: 19.7600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.3770
    Cell Significance Index: 79.4000
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 0.3637
    Cell Significance Index: 0.8200
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.3624
    Cell Significance Index: 3.0800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3208
    Cell Significance Index: 6.9500
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.2973
    Cell Significance Index: 5.0000
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.2887
    Cell Significance Index: 4.3500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2735
    Cell Significance Index: 7.8800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.2464
    Cell Significance Index: 28.7200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1991
    Cell Significance Index: 4.2400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1858
    Cell Significance Index: 101.4600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1067
    Cell Significance Index: 19.2300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0962
    Cell Significance Index: 19.1000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0948
    Cell Significance Index: 3.0400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0844
    Cell Significance Index: 10.3800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0644
    Cell Significance Index: 8.3200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0631
    Cell Significance Index: 39.4300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0468
    Cell Significance Index: 1.1700
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.0449
    Cell Significance Index: 0.5100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0407
    Cell Significance Index: 1.4300
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.0246
    Cell Significance Index: 0.3800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0015
    Cell Significance Index: -1.1200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0031
    Cell Significance Index: -1.7700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0056
    Cell Significance Index: -10.5000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0110
    Cell Significance Index: -1.8700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0126
    Cell Significance Index: -0.6300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0133
    Cell Significance Index: -10.0900
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0135
    Cell Significance Index: -0.5500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0154
    Cell Significance Index: -11.2600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0176
    Cell Significance Index: -11.1500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0281
    Cell Significance Index: -12.7400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0295
    Cell Significance Index: -3.7800
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0323
    Cell Significance Index: -0.4900
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: -0.0343
    Cell Significance Index: -0.3700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0385
    Cell Significance Index: -2.7200
  • Cell Name: precursor cell (CL0011115)
    Fold Change: -0.0422
    Cell Significance Index: -0.3200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0425
    Cell Significance Index: -12.2400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0589
    Cell Significance Index: -11.8200
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0667
    Cell Significance Index: -7.6100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0681
    Cell Significance Index: -2.0000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0698
    Cell Significance Index: -4.2800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0702
    Cell Significance Index: -7.1700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0724
    Cell Significance Index: -9.9500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0765
    Cell Significance Index: -11.1200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0987
    Cell Significance Index: -11.3100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1105
    Cell Significance Index: -11.5100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1418
    Cell Significance Index: -11.2300
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.1542
    Cell Significance Index: -2.0200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1643
    Cell Significance Index: -12.6100
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.1652
    Cell Significance Index: -4.1300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1712
    Cell Significance Index: -11.5100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1726
    Cell Significance Index: -8.1100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1734
    Cell Significance Index: -9.0300
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1748
    Cell Significance Index: -6.4200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1817
    Cell Significance Index: -11.4500
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: -0.1958
    Cell Significance Index: -1.3000
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1986
    Cell Significance Index: -4.2500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1988
    Cell Significance Index: -14.8200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2096
    Cell Significance Index: -12.8800
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.2415
    Cell Significance Index: -10.5000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2416
    Cell Significance Index: -13.5600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2590
    Cell Significance Index: -13.6000
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.2881
    Cell Significance Index: -4.5700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2968
    Cell Significance Index: -13.1300
  • Cell Name: stem cell (CL0000034)
    Fold Change: -0.3068
    Cell Significance Index: -2.2300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.3080
    Cell Significance Index: -6.3900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3117
    Cell Significance Index: -10.9200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3203
    Cell Significance Index: -11.1300
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: -0.3265
    Cell Significance Index: -2.7000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.3350
    Cell Significance Index: -3.0900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3441
    Cell Significance Index: -9.2100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3465
    Cell Significance Index: -13.1200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.3494
    Cell Significance Index: -9.5100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.3533
    Cell Significance Index: -7.4000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3549
    Cell Significance Index: -11.6200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3645
    Cell Significance Index: -11.6100
  • Cell Name: basal cell (CL0000646)
    Fold Change: -0.3656
    Cell Significance Index: -4.3500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3752
    Cell Significance Index: -11.0500
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: -0.3763
    Cell Significance Index: -3.9700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.3895
    Cell Significance Index: -10.4000
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.3941
    Cell Significance Index: -8.0200
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.3989
    Cell Significance Index: -5.0400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** GJB2 is a transmembrane protein belonging to the connexin family, which forms gap junction channels. It is characterized by its ability to form homomeric and heteromeric gap junctions with other connexin proteins. GJB2 is highly expressed in various tissues, including the inner ear, skin, and epithelial cells, where it plays a critical role in maintaining tissue homeostasis and function. **Pathways and Functions:** GJB2 is involved in several important cellular processes, including: 1. **Cell-cell signaling**: GJB2 facilitates the exchange of ions, metabolites, and signaling molecules between adjacent cells, enabling the coordination of cellular activities, such as muscle contraction and neuronal communication. 2. **Gap junction-mediated intercellular transport**: GJB2 forms gap junction channels that allow the direct transport of ions, metabolites, and signaling molecules between cells, regulating various physiological processes, including osmoregulation and immune responses. 3. **Cellular response to stress**: GJB2 is involved in the regulation of cellular responses to stress, such as oxidative stress and hypoxia, by facilitating the exchange of signaling molecules and ions between cells. **Clinical Significance:** GJB2 mutations are associated with several human diseases, including: 1. **Conductive hearing loss**: Mutations in GJB2 are the most common cause of nonsyndromic hearing loss, affecting approximately 50% of cases. 2. **Cone-rod dystrophy**: GJB2 mutations are associated with cone-rod dystrophy, a rare inherited disorder affecting the retina. 3. **Skin disorders**: GJB2 mutations have been linked to various skin disorders, including epidermolysis bullosa simplex and junctional epidermolysis bullosa. 4. **Immune disorders**: GJB2 is involved in the regulation of immune responses, and mutations in GJB2 have been associated with autoimmune disorders, such as lupus and rheumatoid arthritis. In conclusion, GJB2 plays a critical role in cell-cell communication and coordination of cellular activities. Its dysregulation can lead to various human diseases, highlighting the importance of GJB2 in maintaining human health. Further research is needed to elucidate the mechanisms underlying GJB2-mediated intercellular communication and to develop effective therapies for GJB2-related disorders.

Genular Protein ID: 3324373224

Symbol: CXB2_HUMAN

Name: Gap junction beta-2 protein

UniProtKB Accession Codes:

P29033 Q508A5 Q508A6 Q5YLL0 Q5YLL1 Q5YLL4 Q6IPV5 Q86U88 Q96AK0 Q9H536 Q9NNY4

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChEBI 3 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugCentral 1 EMBL 20 EMDB 21 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 29 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 15 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 7 OrthoDB 1 PANTHER 2 PDB 24 PDBsum 24 PIR 1 PRINTS 2 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 4 RefSeq 2 SIGNOR 1 SMART 2 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1324944

Title: Transcriptional downregulation of gap-junction proteins blocks junctional communication in human mammary tumor cell lines.

PubMed ID: 1324944

DOI: 10.1083/jcb.118.5.1213

PubMed ID: 11439000

Title: Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.

PubMed ID: 11439000

DOI: 10.1002/humu.1156

PubMed ID: 14722929

Title: Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants.

PubMed ID: 14722929

DOI: 10.1002/humu.9216

PubMed ID: 15666300

Title: GJB2 mutations: passage through Iran.

PubMed ID: 15666300

DOI: 10.1002/ajmg.a.30576

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15994881

Title: A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.

PubMed ID: 15994881

DOI: 10.1136/jmg.2004.028324

PubMed ID: 19864490

Title: Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins.

PubMed ID: 19864490

DOI: 10.1093/hmg/ddp490

PubMed ID: 17551008

Title: Three-dimensional structure of a human connexin26 gap junction channel reveals a plug in the vestibule.

PubMed ID: 17551008

DOI: 10.1073/pnas.0703704104

PubMed ID: 19340074

Title: Structure of the connexin 26 gap junction channel at 3.5 A resolution.

PubMed ID: 19340074

DOI: 10.1038/nature07869

PubMed ID: 21094651

Title: Asymmetric configurations and N-terminal rearrangements in connexin26 gap junction channels.

PubMed ID: 21094651

DOI: 10.1016/j.jmb.2010.10.032

PubMed ID: 26753910

Title: An electrostatic mechanism for Ca(2+)-mediated regulation of gap junction channels.

PubMed ID: 26753910

DOI: 10.1038/ncomms9770

PubMed ID: 9139825

Title: Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.

PubMed ID: 9139825

DOI: 10.1038/387080a0

PubMed ID: 9422505

Title: Connexin mutations and hearing loss.

PubMed ID: 9422505

DOI: 10.1038/34079

PubMed ID: 9328482

Title: Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.

PubMed ID: 9328482

DOI: 10.1093/hmg/6.12.2163

PubMed ID: 9336442

Title: Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.

PubMed ID: 9336442

DOI: 10.1093/hmg/6.12.2173

PubMed ID: 9529365

Title: Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.

PubMed ID: 9529365

DOI: 10.1086/301807

PubMed ID: 9856479

Title: Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.

PubMed ID: 9856479

DOI: 10.1007/s004390050839

PubMed ID: 9600457

Title: Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.

PubMed ID: 9600457

DOI: 10.1002/(sici)1098-1004(1998)11:5<387::aid-humu6>3.0.co;2-8

PubMed ID: 9620796

Title: Connexin 26 gene linked to a dominant deafness.

PubMed ID: 9620796

DOI: 10.1038/30639

PubMed ID: 9471561

Title: Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa.

PubMed ID: 9471561

DOI: 10.1056/nejm199802193380813

PubMed ID: 10369869

Title: A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.

PubMed ID: 10369869

DOI: 10.1093/hmg/8.7.1237

PubMed ID: 10607953

Title: Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population.

PubMed ID: 10607953

DOI: 10.1002/(sici)1096-8628(20000117)90:2<141::aid-ajmg10>3.0.co;2-g

PubMed ID: 10757647

Title: Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.

PubMed ID: 10757647

DOI: 10.1038/sj.ejhg.5200407

PubMed ID: 10830906

Title: High frequency hearing loss correlated with mutations in the GJB2 gene.

PubMed ID: 10830906

DOI: 10.1007/s004390000273

PubMed ID: 10633135

Title: A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350).

PubMed ID: 10633135

DOI: 10.1136/jmg.37.1.50

PubMed ID: 10807696

Title: A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss.

PubMed ID: 10807696

DOI: 10.1136/jmg.37.5.368

PubMed ID: 11313763

Title: Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.

PubMed ID: 11313763

DOI: 10.1038/sj.ejhg.5200607

PubMed ID: 11912510

Title: Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.

PubMed ID: 11912510

DOI: 10.1086/339986

PubMed ID: 12239718

Title: Exploring the clinical and epidemiological complexity of GJB2-linked deafness.

PubMed ID: 12239718

DOI: 10.1002/ajmg.10621

PubMed ID: 12072059

Title: HID and KID syndromes are associated with the same connexin 26 mutation.

PubMed ID: 12072059

DOI: 10.1046/j.1365-2133.2002.04893.x

PubMed ID: 12121355

Title: Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss.

PubMed ID: 12121355

DOI: 10.1034/j.1399-0004.2002.610611.x

PubMed ID: 12372058

Title: The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family.

PubMed ID: 12372058

DOI: 10.1034/j.1399-0004.2002.620409.x

PubMed ID: 12548749

Title: De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome.

PubMed ID: 12548749

DOI: 10.1002/ajmg.a.10851

PubMed ID: 12752120

Title: Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome.

PubMed ID: 12752120

DOI: 10.1046/j.1365-2133.2003.05245.x

PubMed ID: 12786758

Title: A novel dominant missense mutation -- D179N -- in the GJB2 gene (connexin 26) associated with non-syndromic hearing loss.

PubMed ID: 12786758

DOI: 10.1034/j.1399-0004.2003.00079.x

PubMed ID: 12560944

Title: GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.

PubMed ID: 12560944

DOI: 10.1007/s00439-002-0889-x

PubMed ID: 12668604

Title: Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.

PubMed ID: 12668604

DOI: 10.1093/hmg/ddg076

PubMed ID: 12746422

Title: Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India.

PubMed ID: 12746422

DOI: 10.1136/jmg.40.5.e68

PubMed ID: 14694360

Title: Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene.

PubMed ID: 14694360

DOI: 10.1038/sj.ejhg.5201147

PubMed ID: 15482471

Title: Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.

PubMed ID: 15482471

DOI: 10.1111/j.0022-202x.2004.23470.x

PubMed ID: 15952212

Title: G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome.

PubMed ID: 15952212

DOI: 10.1002/ajmg.a.30822

PubMed ID: 15996214

Title: Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss.

PubMed ID: 15996214

DOI: 10.1111/j.1399-0004.2005.00468.x

PubMed ID: 15954104

Title: Mutation analysis of the GJB2 (connexin 26) gene in Egypt.

PubMed ID: 15954104

DOI: 10.1002/humu.9350

PubMed ID: 15592461

Title: Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness.

PubMed ID: 15592461

DOI: 10.1038/ncb1205

PubMed ID: 16849369

Title: Pathogenetic role of the deafness-related M34T mutation of Cx26.

PubMed ID: 16849369

DOI: 10.1093/hmg/ddl184

PubMed ID: 17935238

Title: M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.

PubMed ID: 17935238

DOI: 10.1002/ajmg.a.31982

PubMed ID: 17666888

Title: A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

PubMed ID: 17666888

DOI: 10.1097gim.0b013e3180a03276

PubMed ID: 17660464

Title: A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.

PubMed ID: 17660464

DOI: 10.1136/jmg.2007.050682

PubMed ID: 17993581

Title: A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.

PubMed ID: 17993581

DOI: 10.1136/jmg.2007.052332

PubMed ID: 19283857

Title: Connexin mutations in Brazilian patients with skin disorders with or without hearing loss.

PubMed ID: 19283857

DOI: 10.1002/ajmg.a.32765

PubMed ID: 18688874

Title: New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma.

PubMed ID: 18688874

DOI: 10.1002/ajmg.a.32462

PubMed ID: 19416251

Title: Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss.

PubMed ID: 19416251

DOI: 10.1111/j.1365-2133.2009.09137.x

PubMed ID: 19384972

Title: Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss.

PubMed ID: 19384972

DOI: 10.1002/humu.21036

PubMed ID: 23680645

Title: Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss.

PubMed ID: 23680645

DOI: 10.1016/j.gene.2013.04.078

PubMed ID: 28281779

Title: Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.

PubMed ID: 28281779

DOI: 10.1089/gtmb.2016.0328

PubMed ID: 30872814

Title: Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.

PubMed ID: 30872814

DOI: 10.1038/s41431-019-0372-y

PubMed ID: 31160754

Title: Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.

PubMed ID: 31160754

DOI: 10.1038/s41436-019-0535-9

Sequence Information:

  • Length: 226
  • Mass: 26215
  • Checksum: D35293C6747E908C
  • Sequence:
    • MDWGTLQTIL GGVNKHSTSI GKIWLTVLFI FRIMILVVAA KEVWGDEQAD FVCNTLQPGC 
KNVCYDHYFP ISHIRLWALQ LIFVSTPALL VAMHVAYRRH EKKRKFIKGE IKSEFKDIEE 
IKTQKVRIEG SLWWTYTSSI FFRVIFEAAF MYVFYVMYDG FSMQRLVKCN AWPCPNTVDC 
FVSRPTEKTV FTVFMIAVSG ICILLNVTEL CYLLIRYCSG KSKKPV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.