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Aliases for GJB3 Gene

Aliases for GJB3 Gene

  • Gap Junction Protein, Beta 3, 31kDa 2 3
  • CX31 3 4 6
  • Connexin 31 2 3
  • Connexin-31 3 4
  • DFNA2B 3 6
  • Gap Junction Protein, Beta 3, 31kDa (Connexin 31) 2
  • Gap Junction Protein, Beta 3, 31kD (Connexin 31) 2
  • Erythrokeratodermia Variabilis 2
  • Gap Junction Beta-3 Protein 3
  • DFNA2 3
  • EKV 3

External Ids for GJB3 Gene

Previous Symbols for GJB3 Gene

  • DFNA2
  • EKV

Summaries for GJB3 Gene

Entrez Gene Summary for GJB3 Gene

  • This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

GeneCards Summary for GJB3 Gene

GJB3 (Gap Junction Protein, Beta 3, 31kDa) is a Protein Coding gene. Diseases associated with GJB3 include nonsyndromic hearing loss and deafness, dfnb1 and deafness, autosomal dominant 2b. 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 GJA1.

UniProtKB/Swiss-Prot for GJB3 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 GJB3 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 GJB3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GJB3 Gene

Genomics for GJB3 Gene

Genomic Location for GJB3 Gene

Start:
34,781,189 bp from pter
End:
34,786,369 bp from pter
Size:
5,181 bases
Orientation:
Plus strand

Genomic View for GJB3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GJB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GJB3 Gene

Regulatory Elements for GJB3 Gene

Proteins for GJB3 Gene

  • Protein details for GJB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75712-CXB3_HUMAN
    Recommended name:
    Gap junction beta-3 protein
    Protein Accession:
    O75712
    Secondary Accessions:
    • B2R790
    • Q2TAZ8

    Protein attributes for GJB3 Gene

    Size:
    270 amino acids
    Molecular mass:
    30818 Da
    Quaternary structure:
    • A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity).

neXtProt entry for GJB3 Gene

Proteomics data for GJB3 Gene at MOPED

Post-translational modifications for GJB3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GJB3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for GJB3 Gene

Domains for GJB3 Gene

Gene Families for GJB3 Gene

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

UniProtKB/Swiss-Prot:

CXB3_HUMAN
Family:
  • Belongs to the connexin family. Beta-type (group I) subfamily.:
    • O75712
genes like me logo Genes that share domains with GJB3: view

Function for GJB3 Gene

Molecular function for GJB3 Gene

GENATLAS Biochemistry: gap junction protein beta 3,connexin 31,monomer of the connexon (six subunits), expressed in inner ear tissues and epidermis
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 GJB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005243 gap junction channel activity NAS 9704026
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with GJB3: view
genes like me logo Genes that share phenotypes with GJB3: view

miRNA for GJB3 Gene

miRTarBase miRNAs that target GJB3

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for GJB3 Gene

Localization for GJB3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GJB3 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GJB3 Gene COMPARTMENTS Subcellular localization image for GJB3 gene
Compartment Confidence
plasma membrane 5
mitochondrion 2

Gene Ontology (GO) - Cellular Components for GJB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005911 cell-cell junction --
GO:0005921 gap junction NAS 9704026
GO:0005922 connexon complex IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GJB3: view

Pathways for GJB3 Gene

genes like me logo Genes that share pathways with GJB3: view

Pathways by source for GJB3 Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for GJB3 Gene
1 Qiagen pathway for GJB3 Gene

Gene Ontology (GO) - Biological Process for GJB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0001890 placenta development IEA --
GO:0007154 cell communication IEA --
GO:0007605 sensory perception of sound IEA --
GO:0043588 skin development IEA --
genes like me logo Genes that share ontologies with GJB3: view

Compounds for GJB3 Gene

(4) Tocris Compounds for GJB3 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 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 GJB3 Gene

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

(3) Novoseek inferred chemical compound relationships for GJB3 Gene

Compound -log(P) Hits PubMed IDs
ethidium bromide 23 1
proline 19.1 1
potassium 0 1
genes like me logo Genes that share compounds with GJB3: view

Transcripts for GJB3 Gene

mRNA/cDNA for GJB3 Gene

Unigene Clusters for GJB3 Gene

Gap junction protein, beta 3, 31kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GJB3 Gene

No ASD Table

Relevant External Links for GJB3 Gene

GeneLoc Exon Structure for
GJB3
ECgene alternative splicing isoforms for
GJB3

Expression for GJB3 Gene

mRNA expression in normal human tissues for GJB3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GJB3 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (16.4), Skin - Not Sun Exposed (Suprapubic) (16.2), and Esophagus - Mucosa (9.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GJB3 Gene

SOURCE GeneReport for Unigene cluster for GJB3 Gene Hs.522561

genes like me logo Genes that share expressions with GJB3: view

Orthologs for GJB3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJB3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GJB3 36
  • 87.9 (n)
  • 86.3 (a)
GJB3 37
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GJB3 36
  • 85.68 (n)
  • 83.33 (a)
GJB3 37
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gjb3 36
  • 83.33 (n)
  • 82.59 (a)
Gjb3 16
Gjb3 37
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GJB3 37
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GJB3 37
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gjb3 36
  • 84.32 (n)
  • 82.96 (a)
chicken
(Gallus gallus)
Aves GJB3 36
  • 76.56 (n)
  • 74.22 (a)
GJB3 37
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GJB3 37
  • 73 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia cx31-A 36
tropical clawed frog
(Silurana tropicalis)
Amphibia gjb3 36
  • 69.19 (n)
  • 70.83 (a)
Str.12131 36
zebrafish
(Danio rerio)
Actinopterygii cx35.4 36
  • 71.81 (n)
  • 74.3 (a)
cx35.4 37
  • 59 (a)
OneToOne
Species with no ortholog for GJB3:
  • 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)
  • chimpanzee (Pan troglodytes)
  • 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 GJB3 Gene

ENSEMBL:
Gene Tree for GJB3 (if available)
TreeFam:
Gene Tree for GJB3 (if available)

Paralogs for GJB3 Gene

Paralogs for GJB3 Gene

Selected SIMAP similar genes for GJB3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GJB3: view

Variants for GJB3 Gene

Sequence variations from dbSNP and Humsavar for GJB3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs9118 -- 34,786,134(-) CAGAA(C/G)CTCTA utr-variant-3-prime
rs13774 -- 34,786,068(-) CTGCA(A/G)GAATC utr-variant-3-prime
rs476220 -- 34,785,628(+) AGGGC(A/C/G)GTGTG utr-variant-3-prime
rs550995 -- 34,784,010(-) gagac(C/G)agttc intron-variant
rs659619 -- 34,786,682(-) AAGTC(C/T)AATTA downstream-variant-500B

Relevant External Links for GJB3 Gene

HapMap Linkage Disequilibrium report
GJB3
Human Gene Mutation Database (HGMD)
GJB3
Locus Specific Mutation Databases (LSDB)
GJB3

No data available for Structural Variations from Database of Genomic Variants (DGV) for GJB3 Gene

Disorders for GJB3 Gene

(3) OMIM Diseases for GJB3 Gene (603324)

UniProtKB/Swiss-Prot

CXB3_HUMAN
  • Erythrokeratodermia variabilis (EKV) [MIM:133200]: A genodermatosis characterized by the appearance of two independent skin lesions: transient figurate erythematous patches and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. {ECO:0000269 PubMed:10594760, ECO:0000269 PubMed:10798362, ECO:0000269 PubMed:9843209}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Deafness, autosomal dominant, 2B (DFNA2B) [MIM:612644]: A form of non-syndromic sensorineural deafness characterized by progressive high frequency hearing loss in adulthood, with milder expression in females. {ECO:0000269 PubMed:9843210}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(8) Novoseek inferred disease relationships for GJB3 Gene

Disease -log(P) Hits PubMed IDs
erythrokeratodermia variabilis 98.6 17
keratoderma palmoplantar 78.5 1
hearing loss sensorineural 73.8 5
hyperkeratosis 73.3 1
skin diseases 62.6 13

Relevant External Links for GJB3

Genetic Association Database (GAD)
GJB3
Human Genome Epidemiology (HuGE) Navigator
GJB3
genes like me logo Genes that share disorders with GJB3: view

Publications for GJB3 Gene

  1. Human gap junction protein connexin31: molecular cloning and expression analysis. (PMID: 9704026) Wenzel K. … Traub O. (Biochem. Biophys. Res. Commun. 1998) 2 3 4 23
  2. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. (PMID: 9843210) Xia J.-H. … Huang J.Z. (Nat. Genet. 1998) 2 3 4 23
  3. Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. (PMID: 10594760) Wilgoss A. … Kelsell D.P. (J. Invest. Dermatol. 1999) 3 4 23
  4. Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. (PMID: 10757647) Kelsell D.P. … Leigh I.M. (Eur. J. Hum. Genet. 2000) 3 4 23
  5. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. (PMID: 9843209) Richard G. … Bale S.J. (Nat. Genet. 1998) 3 4 23

Products for GJB3 Gene

Sources for GJB3 Gene

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