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Aliases for GJB2 Gene

Aliases for GJB2 Gene

  • Gap Junction Protein Beta 2 2 3 5
  • Gap Junction Protein, Beta 2, 26kDa 2 3
  • Connexin 26 2 3
  • CX26 3 4
  • Gap Junction Protein, Beta 2, 26kDa (Connexin 26) 2
  • Gap Junction Protein, Beta 2, 26kD (Connexin 26) 2
  • Mutant Gap Junction Protein Beta 2 3
  • Connexin-26 4
  • DFNA3A 3
  • DFNB1A 3
  • NSRD1 3
  • DFNA3 3
  • DFNB1 3
  • KID 3
  • HID 3
  • PPK 3

External Ids for GJB2 Gene

Previous HGNC Symbols for GJB2 Gene

  • DFNB1
  • DFNA3

Previous GeneCards Identifiers for GJB2 Gene

  • GC13M018741
  • GC13M014741
  • GC13M019691
  • GC13M018559
  • GC13M019659
  • GC13M020761
  • GC13M001567

Summaries for GJB2 Gene

Entrez Gene Summary for GJB2 Gene

  • This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008]

GeneCards Summary for GJB2 Gene

GJB2 (Gap Junction Protein Beta 2) is a Protein Coding gene. Diseases associated with GJB2 include vohwinkel syndrome and keratoderma, palmoplantar, with deafness. Among its related pathways are Signaling in Gap Junctions and Gap junction trafficking. GO annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJC2.

UniProtKB/Swiss-Prot for GJB2 Gene

  • 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.

Tocris Summary for GJB2 Gene

  • Gap channels (gap junctions) are specialized cell-cell contacts that provide direct intracellular communication. They allow passive diffusion of molecules up to 1 kDa, including nutrients, metabolites (glucose), ions (K+, Ca2+) and second messengers (IP3, cAMP).

Gene Wiki entry for GJB2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GJB2 Gene

Genomics for GJB2 Gene

Regulatory Elements for GJB2 Gene

Enhancers for GJB2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GJB2 on UCSC Golden Path with GeneCards custom track

Promoters for GJB2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GJB2 on UCSC Golden Path with GeneCards custom track

Genomic Location for GJB2 Gene

Chromosome:
13
Start:
20,187,463 bp from pter
End:
20,192,975 bp from pter
Size:
5,513 bases
Orientation:
Minus strand

Genomic View for GJB2 Gene

Genes around GJB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GJB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GJB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GJB2 Gene

Proteins for GJB2 Gene

  • Protein details for GJB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P29033-CXB2_HUMAN
    Recommended name:
    Gap junction beta-2 protein
    Protein Accession:
    P29033
    Secondary Accessions:
    • Q508A5
    • Q508A6
    • Q5YLL0
    • Q5YLL1
    • Q5YLL4
    • Q6IPV5
    • Q86U88
    • Q96AK0
    • Q9H536
    • Q9NNY4

    Protein attributes for GJB2 Gene

    Size:
    226 amino acids
    Molecular mass:
    26215 Da
    Quaternary structure:
    • A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity).

    Three dimensional structures from OCA and Proteopedia for GJB2 Gene

neXtProt entry for GJB2 Gene

Proteomics data for GJB2 Gene at MOPED

Post-translational modifications for GJB2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GJB2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GJB2 Gene

Domains & Families for GJB2 Gene

Gene Families for GJB2 Gene

Suggested Antigen Peptide Sequences for GJB2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P29033

UniProtKB/Swiss-Prot:

CXB2_HUMAN :
  • Belongs to the connexin family. Beta-type (group I) subfamily.
Family:
  • Belongs to the connexin family. Beta-type (group I) subfamily.
genes like me logo Genes that share domains with GJB2: view

Function for GJB2 Gene

Molecular function for GJB2 Gene

GENATLAS Biochemistry:
gap junction protein,beta 2,26kDa (connexin 26),expressed in the cochlea,weakly in the suprabasal layer of the epidermis and in epithelial cells of the mammary gland and endometre,monomer of the connexon (six subunits including GJA3,GJA8,GJB1,GJB2))
UniProtKB/Swiss-Prot Function:
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.
genes like me logo Genes that share phenotypes with GJB2: view

Human Phenotype Ontology for GJB2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GJB2 Gene

MGI Knock Outs for GJB2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for GJB2 Gene

Localization for GJB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GJB2 Gene

Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GJB2 Gene COMPARTMENTS Subcellular localization image for GJB2 gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 2
cytoskeleton 1
golgi apparatus 1
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for GJB2 Gene

Pathways & Interactions for GJB2 Gene

genes like me logo Genes that share pathways with GJB2: view

Pathways by source for GJB2 Gene

SIGNOR curated interactions for GJB2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for GJB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 1324944
GO:0007154 cell communication IEA --
GO:0007605 sensory perception of sound IEA --
GO:0032355 response to estradiol IEA --
GO:0034599 cellular response to oxidative stress IEA --
genes like me logo Genes that share ontologies with GJB2: view

Drugs & Compounds for GJB2 Gene

(27) Drugs for GJB2 Gene - From: ApexBio, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbenoxolone Experimental Pharma Inhibitor 0
Flufenamic acid Experimental Pharma Channel blocker Activates TRPC6; NSAID 0
Gap 26 Pharma Gap junction blocker peptide, mapping to connexin 43 residue 63-75, Gap junction blocker; inhibits smooth muscle contraction and IP3-mediated ATP release 0
Ca<sup>2+</sup> Pharma Activator 0
octanol Pharma Inhibitor 0

(14) Additional Compounds for GJB2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for GJB2 Gene

Compound Action Cas Number
10Panx Panx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions 955091-53-9
Carbenoxolone disodium Gap junction blocker. Also inhibitor of 11 beta-hydroxysteroid dehydrogenase 7421-40-1
Gap 26 Gap junction blocker; inhibits smooth muscle contraction and IP3-mediated ATP release 197250-15-0
Gap 27 Selective gap junction blocker 198284-64-9
Scrambled 10Panx Scrambled version of 10Panx (Cat. No. 3348), Panx-1 mimetic inhibitory peptide 1315378-72-3

(1) ApexBio Compounds for GJB2 Gene

Compound Action Cas Number
Gap 26 Gap junction blocker peptide, mapping to connexin 43 residue 63-75 197250-15-0
genes like me logo Genes that share compounds with GJB2: view

Transcripts for GJB2 Gene

mRNA/cDNA for GJB2 Gene

Unigene Clusters for GJB2 Gene

Gap junction protein, beta 2, 26kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GJB2 Gene

No ASD Table

Relevant External Links for GJB2 Gene

GeneLoc Exon Structure for
GJB2
ECgene alternative splicing isoforms for
GJB2

Expression for GJB2 Gene

mRNA expression in normal human tissues for GJB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GJB2 Gene

This gene is overexpressed in Esophagus - Mucosa (x20.8), Vagina (x10.8), Cervix - Ectocervix (x9.0), and Minor Salivary Gland (x6.0).

Protein differential expression in normal tissues from HIPED for GJB2 Gene

This gene is overexpressed in Esophagus (46.1) and Spinal cord (22.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GJB2 Gene



SOURCE GeneReport for Unigene cluster for GJB2 Gene Hs.524894

genes like me logo Genes that share expression patterns with GJB2: view

Protein tissue co-expression partners for GJB2 Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for GJB2 Gene

Orthologs for GJB2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJB2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GJB2 35
  • 86.43 (n)
  • 96.02 (a)
GJB2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GJB2 35
  • 89.23 (n)
  • 98.67 (a)
GJB2 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gjb2 35
  • 87.17 (n)
  • 92.92 (a)
Gjb2 16
Gjb2 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GJB2 35
  • 99.26 (n)
  • 100 (a)
GJB2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gjb2 35
  • 86.87 (n)
  • 93.81 (a)
oppossum
(Monodelphis domestica)
Mammalia GJB2 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GJB2 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves GJB2 35
  • 73.48 (n)
  • 78.64 (a)
GJB6 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 23 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6148 35
African clawed frog
(Xenopus laevis)
Amphibia gjb2-prov 35
zebrafish
(Danio rerio)
Actinopterygii cx30.3 36
  • 55 (a)
OneToMany
Species with no ortholog for GJB2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GJB2 Gene

ENSEMBL:
Gene Tree for GJB2 (if available)
TreeFam:
Gene Tree for GJB2 (if available)

Paralogs for GJB2 Gene

Paralogs for GJB2 Gene

(17) SIMAP similar genes for GJB2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with GJB2: view

Variants for GJB2 Gene

Sequence variations from dbSNP and Humsavar for GJB2 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs2274084 - 20,189,503(+) GAGGA(C/T)GGTGA reference, missense
rs35887622 - 20,189,481(+) GGATC(A/C/G)TAATG reference, missense
rs72474224 Deafness, autosomal recessive, 1A (DFNB1A) 20,189,473(+) CACAA(A/C/T)GAGGA reference, missense
VAR_002140 Deafness, autosomal dominant, 3A (DFNA3A)
VAR_002140 Keratoderma, palmoplantar, with deafness (PPKDFN)

Structural Variations from Database of Genomic Variants (DGV) for GJB2 Gene

Variant ID Type Subtype PubMed ID
nsv899870 CNV Loss 21882294
nsv899871 CNV Loss 21882294

Variation tolerance for GJB2 Gene

Residual Variation Intolerance Score: 97.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.56; 72.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GJB2 Gene

HapMap Linkage Disequilibrium report
GJB2
Human Gene Mutation Database (HGMD)
GJB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GJB2 Gene

Disorders for GJB2 Gene

MalaCards: The human disease database

(55) MalaCards diseases for GJB2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
vohwinkel syndrome
  • deafness, congenital, with keratopachydermia and constrictions of fingers and toes
keratoderma, palmoplantar, with deafness
  • keratoderma palmoplantar deafness
hystrix-like ichthyosis with deafness
  • ichthyosis, hystrix-like, with deafness
deafness, autosomal recessive 1a
  • deafness, digenic, gjb2/gjb3
bart-pumphrey syndrome
  • knuckle pads, leukonychia, and sensorineural deafness
- elite association - COSMIC cancer census association via MalaCards
Search GJB2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CXB2_HUMAN
  • 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. {ECO:0000269 PubMed:15482471, ECO:0000269 PubMed:15952212}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:10807696, ECO:0000269 PubMed:11313763, ECO:0000269 PubMed:11439000, ECO:0000269 PubMed:12786758, ECO:0000269 PubMed:19384972, ECO:0000269 PubMed:9620796}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:10830906, ECO:0000269 PubMed:11313763, ECO:0000269 PubMed:11439000, ECO:0000269 PubMed:12121355, ECO:0000269 PubMed:12239718, ECO:0000269 PubMed:12786758, ECO:0000269 PubMed:14722929, ECO:0000269 PubMed:15666300, ECO:0000269 PubMed:15994881, ECO:0000269 PubMed:17660464, ECO:0000269 PubMed:17666888, ECO:0000269 PubMed:19384972, ECO:0000269 PubMed:23680645, ECO:0000269 PubMed:9328482, ECO:0000269 PubMed:9336442, ECO:0000269 PubMed:9471561, ECO:0000269 PubMed:9529365}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:12072059}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:11912510, ECO:0000269 PubMed:12548749, ECO:0000269 PubMed:12752120}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:10633135, ECO:0000269 PubMed:10757647, ECO:0000269 PubMed:12372058, ECO:0000269 PubMed:15996214, ECO:0000269 PubMed:17993581, ECO:0000269 PubMed:9856479}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Vohwinkel syndrome (VS) [MIM:124500]: VS is an autosomal dominant disease characterized by hyperkeratosis, constriction on fingers and toes and congenital deafness. {ECO:0000269 PubMed:10369869, ECO:0000269 PubMed:15954104, ECO:0000269 PubMed:18688874}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GJB2

Genetic Association Database (GAD)
GJB2
Human Genome Epidemiology (HuGE) Navigator
GJB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GJB2
genes like me logo Genes that share disorders with GJB2: view

No data available for Genatlas for GJB2 Gene

Publications for GJB2 Gene

  1. Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants. (PMID: 14722929) Gasmelseed N.M.A. … Meyer C.G. (Hum. Mutat. 2004) 3 4 23 48 67
  2. Pediatric cholesteatoma and variants in the gene encoding connexin 26. (PMID: 19877196) James A.L. … Stockley T.L. (Laryngoscope 2010) 3 23
  3. GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population. (PMID: 19887791) DalamA^n V. … Elgoyhen A.B. (Audiol. Neurootol. 2010) 3 23
  4. Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2. (PMID: 20022641) Gravina L.P. … Chertkoff L. (Int. J. Pediatr. Otorhinolaryngol. 2010) 3 23
  5. Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss. (PMID: 20083784) Kenna M.A. … Rehm H.L. (Arch. Otolaryngol. Head Neck Surg. 2010) 3 23

Products for GJB2 Gene

Sources for GJB2 Gene

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