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Aliases for GJB6 Gene

Aliases for GJB6 Gene

  • Gap Junction Protein, Beta 6, 30kDa 2 3
  • CX30 3 4 6
  • Ectodermal Dysplasia 2, Hidrotic (Clouston Syndrome) 2 3
  • Gap Junction Protein, Beta 6 (Connexin 30) 2 3
  • Connexin 30 2 3
  • Connexin-30 3 4
  • DFNA3B 3 6
  • DFNB1B 3 6
  • ECTD2 3 6
  • HED2 3 6
  • Gap Junction Protein, Beta 6 2
  • Gap Junction Beta-6 Protein 3
  • DFNA3 3
  • EDH 3
  • HED 3
  • ED2 3

External Ids for GJB6 Gene

Previous Symbols for GJB6 Gene

  • DFNA3
  • ED2

Summaries for GJB6 Gene

Entrez Gene Summary for GJB6 Gene

  • Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]

GeneCards Summary for GJB6 Gene

GJB6 (Gap Junction Protein, Beta 6, 30kDa) is a Protein Coding gene. Diseases associated with GJB6 include deafness, autosomal dominant 3b and deafness, autosomal recessive 1b. Among its related pathways are Clathrin derived vesicle budding and Myometrial Relaxation and Contraction Pathways. An important paralog of this gene is GJB3.

UniProtKB/Swiss-Prot for GJB6 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 GJB6 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 GJB6 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GJB6 Gene

Genomics for GJB6 Gene

Genomic Location for GJB6 Gene

Start:
20,221,962 bp from pter
End:
20,232,395 bp from pter
Size:
10,434 bases
Orientation:
Minus strand

Genomic View for GJB6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GJB6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GJB6 Gene

Regulatory Elements for GJB6 Gene

Proteins for GJB6 Gene

  • Protein details for GJB6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95452-CXB6_HUMAN
    Recommended name:
    Gap junction beta-6 protein
    Protein Accession:
    O95452
    Secondary Accessions:
    • B3KQN2
    • Q5Q1H9
    • Q5Q1I0
    • Q5Q1I1
    • Q5T5U0
    • Q8IUP0

    Protein attributes for GJB6 Gene

    Size:
    261 amino acids
    Molecular mass:
    30387 Da
    Quaternary structure:
    • A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity).

neXtProt entry for GJB6 Gene

Proteomics data for GJB6 Gene at MOPED

Post-translational modifications for GJB6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GJB6 Gene

No data available for DME Specific Peptides for GJB6 Gene

Domains for GJB6 Gene

Gene Families for GJB6 Gene

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

Protein Domains for GJB6 Gene

Suggested Antigen Peptide Sequences for GJB6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95452

UniProtKB/Swiss-Prot:

CXB6_HUMAN
Family:
  • Belongs to the connexin family. Beta-type (group I) subfamily.:
    • O95452
genes like me logo Genes that share domains with GJB6: view

Function for GJB6 Gene

Molecular function for GJB6 Gene

GENATLAS Biochemistry: gap junction protein,beta six,mouse CX30 homolog,expressed in the cochlea
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 GJB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with GJB6: view
genes like me logo Genes that share phenotypes with GJB6: view

Animal Models for GJB6 Gene

MGI Knock Outs for GJB6:

miRNA for GJB6 Gene

miRTarBase miRNAs that target GJB6

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for GJB6 Gene

Localization for GJB6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GJB6 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GJB6 Gene COMPARTMENTS Subcellular localization image for GJB6 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
extracellular 2
golgi apparatus 1
lysosome 1
mitochondrion 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for GJB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA --
GO:0005921 gap junction --
GO:0005922 connexon complex IEA --
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with GJB6: view

Pathways for GJB6 Gene

genes like me logo Genes that share pathways with GJB6: view

Pathways by source for GJB6 Gene

Gene Ontology (GO) - Biological Process for GJB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0007154 cell communication IEA --
GO:0007568 aging IEA --
GO:0007605 sensory perception of sound IEA --
GO:0008285 negative regulation of cell proliferation IEA --
genes like me logo Genes that share ontologies with GJB6: view

Compounds for GJB6 Gene

(4) Tocris Compounds for GJB6 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 GJB6 Gene

Ligand Type Action Affinity Pubmed IDs
flufenamic acid Channel blocker None
octanol Inhibitor None
Ca2+ Antagonist Antagonist
carbenoxolone Inhibitor None
genes like me logo Genes that share compounds with GJB6: view

Transcripts for GJB6 Gene

Unigene Clusters for GJB6 Gene

Gap junction protein, beta 6, 30kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GJB6 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f
SP1: - -
SP2: - -
SP3: - - -
SP4: - - - -
SP5: - -
SP6:

Relevant External Links for GJB6 Gene

GeneLoc Exon Structure for
GJB6
ECgene alternative splicing isoforms for
GJB6

Expression for GJB6 Gene

mRNA expression in normal human tissues for GJB6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GJB6 Gene

This gene is overexpressed in Esophagus - Mucosa (10.1) and Vagina (6.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GJB6 Gene

SOURCE GeneReport for Unigene cluster for GJB6 Gene Hs.511757

genes like me logo Genes that share expressions with GJB6: view

No data available for mRNA Expression by UniProt/SwissProt for GJB6 Gene

Orthologs for GJB6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJB6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GJB6 35
  • 99.36 (n)
  • 100 (a)
GJB6 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GJB6 35
  • 82.38 (n)
  • 92.72 (a)
GJB6 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GJB6 35
  • 90.42 (n)
  • 97.7 (a)
GJB6 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gjb6 35
  • 86.33 (n)
  • 95.4 (a)
Gjb6 16
Gjb6 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GJB6 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GJB6 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gjb6 35
  • 86.21 (n)
  • 94.64 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 74 (a)
ManyToMany
GJB6 35
  • 73.31 (n)
  • 73.56 (a)
lizard
(Anolis carolinensis)
Reptilia GJB6 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gjb2 35
  • 67.77 (n)
  • 70.12 (a)
zebrafish
(Danio rerio)
Actinopterygii cx30.3 35
  • 61.9 (n)
  • 61.51 (a)
cx30.3 36
  • 55 (a)
OneToMany
Species with no ortholog for GJB6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 GJB6 Gene

ENSEMBL:
Gene Tree for GJB6 (if available)
TreeFam:
Gene Tree for GJB6 (if available)

Paralogs for GJB6 Gene

Paralogs for GJB6 Gene

Selected SIMAP similar genes for GJB6 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GJB6: view

Variants for GJB6 Gene

Sequence variations from dbSNP and Humsavar for GJB6 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type MAF
rs877098 -- 20,224,101(-) GAATT(C/T)GTTTA intron-variant
rs945366 -- 20,227,705(-) CTCTC(C/T)TCTCC intron-variant
rs945367 -- 20,227,286(-) TATCG(A/T)GAAGC intron-variant
rs945368 -- 20,227,219(-) TCAGA(C/G)CGTGT intron-variant
rs945369 -- 20,227,134(-) AAAAA(A/C)CAGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GJB6 Gene

Variant ID Type Subtype PubMed ID
nsv899871 CNV Loss 21882294
esv2751132 CNV Loss 17911159

Relevant External Links for GJB6 Gene

HapMap Linkage Disequilibrium report
GJB6
Human Gene Mutation Database (HGMD)
GJB6
Locus Specific Mutation Databases (LSDB)
GJB6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GJB6 Gene

Disorders for GJB6 Gene

(4) OMIM Diseases for GJB6 Gene (604418)

UniProtKB/Swiss-Prot

CXB6_HUMAN
  • Ectodermal dysplasia 2, Clouston type (ECTD2) [MIM:129500]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD2 is an autosomal dominant condition characterized by atrichosis, nail hypoplasia and deformities, hyperpigmentation of the skin, normal teeth, normal sweat and sebaceous gland function. Palmoplantar hyperkeratosis is a frequent feature. Hearing impairment has been detected in few cases. {ECO:0000269 PubMed:11017065, ECO:0000269 PubMed:11874494}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Deafness, autosomal recessive, 1B (DFNB1B) [MIM:612645]: 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:11807148, ECO:0000269 PubMed:15994881}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Deafness, autosomal dominant, 3B (DFNA3B) [MIM:612643]: A form of non-syndromic sensorineural hearing loss characterized by a variable phenotype, ranging from bilateral middle to high frequency hearing loss to profound sensorineural deafness. 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:10471490}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(9) Novoseek inferred disease relationships for GJB6 Gene

Disease -log(P) Hits PubMed IDs
dfnb1 96.5 16
hidrotic ectodermal dysplasia 92.7 6
hearing loss sensorineural 79.7 8
congenital deafness 76.6 4
deafness sensorineural 67.1 3

Relevant External Links for GJB6

GeneTests
GJB6
GeneReviews
GJB6
Genetic Association Database (GAD)
GJB6
Human Genome Epidemiology (HuGE) Navigator
GJB6
genes like me logo Genes that share disorders with GJB6: view

Publications for GJB6 Gene

  1. Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12. (PMID: 10610709) Kelley P.M. … Kimberling W.J. (Genomics 1999) 3 4 23
  2. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. (PMID: 11807148) del Castillo I. … Moreno F. (N. Engl. J. Med. 2002) 3 4 23
  3. A novel connexin 30 mutation in Clouston syndrome. (PMID: 11874494) Smith F.J. … McLean W.H.I. (J. Invest. Dermatol. 2002) 3 4 23
  4. The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria. (PMID: 12872268) GA1nther B. … Janecke A. (Hum. Mutat. 2003) 3 23 48
  5. Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. (PMID: 14571368) Del Castillo I. … Moreno F. (Am. J. Hum. Genet. 2003) 3 23 48

Products for GJB6 Gene

Sources for GJB6 Gene

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