Details for: GJB2

Gene ID: 2706

Symbol: GJB2

Ensembl ID: ENSG00000165474

Description: gap junction protein beta 2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 11.54
    Marker Score: 16568
  • Cell Name: T-helper 17 cell (CL0000899)
    Fold Change: 6.01
    Marker Score: 3945
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 2.66
    Marker Score: 20767
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 2.48
    Marker Score: 21348
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 2.41
    Marker Score: 2010
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.23
    Marker Score: 1361
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.21
    Marker Score: 1565
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.09
    Marker Score: 1146
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.06
    Marker Score: 671.5
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71820
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48045
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.99
    Marker Score: 487
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 507
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.98
    Marker Score: 1447
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 461
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2411
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2736
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.91
    Marker Score: 5180
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 324
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5285
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.82
    Marker Score: 627
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1265
  • Cell Name: exhausted T cell (CL0011025)
    Fold Change: 0.78
    Marker Score: 447
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 395
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.76
    Marker Score: 305
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.75
    Marker Score: 688
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.71
    Marker Score: 1741
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 0.7
    Marker Score: 964
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.7
    Marker Score: 448
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 177
  • Cell Name: epithelial cell of stratum germinativum of esophagus (CL1000447)
    Fold Change: 0.66
    Marker Score: 160
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.66
    Marker Score: 1346
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.66
    Marker Score: 2775.5
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.66
    Marker Score: 10335
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.65
    Marker Score: 440
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.64
    Marker Score: 317
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 0.64
    Marker Score: 216
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.62
    Marker Score: 4652
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.62
    Marker Score: 1477
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.62
    Marker Score: 1950.5
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.61
    Marker Score: 2247.5
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.58
    Marker Score: 950
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.56
    Marker Score: 1066
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 0.56
    Marker Score: 143
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.55
    Marker Score: 147
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.51
    Marker Score: 1212
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.51
    Marker Score: 2451
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.5
    Marker Score: 606
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.49
    Marker Score: 492
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.47
    Marker Score: 195
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.46
    Marker Score: 526
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.46
    Marker Score: 275
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 0.45
    Marker Score: 405
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.45
    Marker Score: 525
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.45
    Marker Score: 1019
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.44
    Marker Score: 1008
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.44
    Marker Score: 432
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.42
    Marker Score: 181
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.4
    Marker Score: 183
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.39
    Marker Score: 184
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.39
    Marker Score: 146
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 0.37
    Marker Score: 136
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.35
    Marker Score: 2262
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 0.35
    Marker Score: 272
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.34
    Marker Score: 106
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.33
    Marker Score: 11409
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.33
    Marker Score: 598
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 0.32
    Marker Score: 92
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.32
    Marker Score: 168
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.32
    Marker Score: 1129
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.32
    Marker Score: 223
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.31
    Marker Score: 146
  • Cell Name: alpha-beta T cell (CL0000789)
    Fold Change: 0.3
    Marker Score: 229
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.3
    Marker Score: 72
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.3
    Marker Score: 85
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 0.29
    Marker Score: 92
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.28
    Marker Score: 168
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.28
    Marker Score: 88
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.27
    Marker Score: 68
  • Cell Name: lung microvascular endothelial cell (CL2000016)
    Fold Change: 0.27
    Marker Score: 58
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.27
    Marker Score: 336
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.26
    Marker Score: 3540
  • Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
    Fold Change: 0.26
    Marker Score: 159
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.26
    Marker Score: 89
  • Cell Name: serous secreting cell (CL0000313)
    Fold Change: 0.25
    Marker Score: 100
  • Cell Name: effector CD8-positive, alpha-beta T cell (CL0001050)
    Fold Change: 0.24
    Marker Score: 202
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.23
    Marker Score: 156
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.23
    Marker Score: 367
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.23
    Marker Score: 156
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.22
    Marker Score: 145
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.21
    Marker Score: 911
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.21
    Marker Score: 76
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.21
    Marker Score: 120
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.21
    Marker Score: 98
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.2
    Marker Score: 500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2
    Marker Score: 69
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.19
    Marker Score: 1236

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Other Information

**Key characteristics:** * GJB2 is a transmembrane protein that is expressed in gap junctions. * It is a type of cell surface protein that is involved in the formation of gap junctions. * GJB2 is a calcium-dependent protein that is important for the assembly of gap junctions. * It is also involved in cell communication by electrical coupling. **Pathways and functions:** * GJB2 is involved in cell-cell signaling by mediating the formation of gap junctions between cells. * It is also involved in cell communication by electrical coupling, which is a process by which cells communicate with each other through the flow of ions. * GJB2 is also involved in the assembly of gap junctions between cells. **Clinical significance:** * Mutations in GJB2 have been linked to a number of human diseases, including autism, schizophrenia, and heart failure. * GJB2 is a potential therapeutic target for these diseases. **Additional information:** * GJB2 is a highly conserved protein that is expressed in organisms from yeast to humans. * It is a member of the connexin family of cell surface proteins. * GJB2 is a highly important protein that plays a vital role in cell-cell communication.

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 EMBL 20 EMDB 13 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 29 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 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 27 PDBsum 19 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 UniProtKB 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. For the full schema, download it here.