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Aliases for GJB2 Gene

Aliases for GJB2 Gene

  • Gap Junction Protein, Beta 2, 26kDa 2 3
  • CX26 3 4 6
  • Connexin 26 2 3
  • DFNA3A 3 6
  • DFNB1A 3 6
  • PPK 3 6
  • HID 3 6
  • KID 3 6
  • Gap Junction Protein, Beta 2, 26kDa (Connexin 26) 2
  • Gap Junction Protein, Beta 2, 26kD (Connexin 26) 2
  • Gap Junction Beta-2 Protein 3
  • Gap Junction Protein Beta 2 3
  • Connexin-26 4
  • NSRD1 3
  • DFNA3 3
  • DFNB1 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, 26kDa) is a Protein Coding gene. Diseases associated with GJB2 include deafness, autosomal dominant 3a and keratoderma, palmoplantar, with deafness. Among its related pathways are Clathrin derived vesicle budding and Myometrial Relaxation and Contraction Pathways. GO annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJB3.

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 (also known as gap junctions) are specalized cell-cell contacts between almost all eukaryotic cells that provide direct intracellular communication. Generally, gap channels allow the passive diffusion of molecules up to 1 kDa which includes nutrients, small metabolites (e.g. glucose), ions (K+, Ca2+) and second messengers (IP3, cAMP and cGMP). Gap channels allow electrical and biochemical coupling between cells and in excitable tissues, such as neurons and the heart, enables the generation of synchronized and rapid responses. Structurally, gap channels are composed of two hemichannels called 'connexons', which themselves are formed from six connexin molecules. Homo- and heteromeric combinations are seen, which exhibit distinct permeability, selectivity and functional properties. Pannexins are related to connexins and can also form gap junctions. However, their expression is limited to the brain. Furthermore, in nonchordate animals a family of proteins called innexins form these channels. Gap channels are regulated through post-translational modifications of the C'-terminal cytoplasmic tail and phosphorylation modulates assembly and their physiological properties. They are continuously synthesized and degraded, allowing tissues to rapidly adapt to changing environmental conditions. Connexins play a key role in many physiological processes including cardiac and smooth muscle contraction, regulation of neuronal excitability, epithelial electrolyte transport and keratinocyte differentiation. Mutations in connexin genes are associated with human diseases including sensorineural deafness, a variety of skin disorders, peripheral neuropathy and cardiovascular disease.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GJB2 Gene

Start:
20,187,463 bp from pter
End:
20,194,466 bp from pter
Size:
7,004 bases
Orientation:
Minus strand

Genomic View for GJB2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for GJB2 Gene

Domains for GJB2 Gene

Gene Families for GJB2 Gene

HGNC:
  • GJ :Ion channels / Gap junction proteins (connexins)
IUPHAR :

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 :
  • P29033
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

Gene Ontology (GO) - Molecular Function for GJB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005243 gap junction channel activity IEA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with GJB2: view
genes like me logo Genes that share phenotypes with GJB2: view

Animal Models for GJB2 Gene

MGI Knock Outs for GJB2:

Animal Model Products

miRNA for GJB2 Gene

miRTarBase miRNAs that target GJB2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GJB2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
mitochondrion 2
cytoskeleton 1
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for GJB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment TAS --
GO:0005886 plasma membrane TAS --
GO:0005921 gap junction --
GO:0005922 connexon complex IEA --
genes like me logo Genes that share ontologies with GJB2: view

Pathways for GJB2 Gene

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

Pathways by source for GJB2 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for GJB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 1324944
GO:0007267 cell-cell signaling IEA --
GO:0007565 female pregnancy --
GO:0007605 sensory perception of sound IEA --
GO:0016264 gap junction assembly TAS --
genes like me logo Genes that share ontologies with GJB2: view

Compounds for GJB2 Gene

(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]

(4) IUPHAR Ligand for GJB2 Gene

Ligand Type Action Affinity Pubmed IDs
flufenamic acid Channel blocker None
octanol Inhibitor None
Ca2+ Antagonist Antagonist
carbenoxolone Inhibitor None

(32) Novoseek inferred chemical compound relationships for GJB2 Gene

Compound -log(P) Hits PubMed IDs
oleamide 46.3 3
polyphosphate 44.3 6
apai 31.9 2
aminoglycosides 29.7 1
nocodazole 26.9 3
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GJB2

Primer Products

Flow Cytometry Products

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 (20.8), Vagina (10.8), Cervix - Ectocervix (9.0), and Minor Salivary Gland (6.0).

Integrated Proteomics: protein expression 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 expressions with GJB2: view

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia GJB2 35
  • 99.26 (n)
  • 100 (a)
GJB2 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia GJB2 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GJB2 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gjb2 35
  • 86.87 (n)
  • 93.81 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia gjb2-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6148 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

Selected 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 MAF
rs7623 -- 20,187,749(-) ATATA(A/G)CTAAT utr-variant-3-prime
rs9237 -- 20,187,834(-) CTAAA(A/G/T)TCTGT utr-variant-3-prime
rs912404 -- 20,191,410(-) CTGTA(C/G)AAGGG intron-variant, upstream-variant-2KB
rs1801002 Pathogenic 20,189,547(-) GGGGG(G/T)TGTGA reference, missense
rs2274083 Likely benign, - 20,189,241(-) GAGTG(A/G)ATTTA reference, missense

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

Relevant External Links for GJB2 Gene

HapMap Linkage Disequilibrium report
GJB2
Human Gene Mutation Database (HGMD)
GJB2
Locus Specific Mutation Databases (LSDB)
GJB2

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

Disorders for GJB2 Gene

(7) OMIM Diseases for GJB2 Gene (121011)

UniProtKB/Swiss-Prot

CXB2_HUMAN
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.

(62) Novoseek inferred disease relationships for GJB2 Gene

Disease -log(P) Hits PubMed IDs
dfnb1 97.4 88
congenital deafness 92.4 41
dfna3 90.2 11
hearing loss sensorineural 88.5 73
vohwinkel syndrome 87.7 12

Relevant External Links for GJB2

GeneTests
GJB2
GeneReviews
GJB2
Genetic Association Database (GAD)
GJB2
Human Genome Epidemiology (HuGE) Navigator
GJB2
genes like me logo Genes that share disorders with GJB2: view

Publications for GJB2 Gene

  1. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. (PMID: 9139825) Kelsell D.P. … Leigh I.M. (Nature 1997) 2 3 4 23
  2. Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. (PMID: 11313763) Loffler J. … Janecke A.R. (Eur. J. Hum. Genet. 2001) 3 4 23 48
  3. 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
  4. Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. (PMID: 15482471) Richard G. … Krol A. (J. Invest. Dermatol. 2004) 3 4 23 48
  5. Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria. (PMID: 15464308) Frei K. … Kirschhofer K. (Hear. Res. 2004) 3 23 48

Products for GJB2 Gene

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