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Aliases for GJB6 Gene

Aliases for GJB6 Gene

  • Gap Junction Protein Beta 6 2 3 5
  • Ectodermal Dysplasia 2, Hidrotic (Clouston Syndrome) 2 3
  • Gap Junction Protein, Beta 6 (Connexin 30) 2 3
  • Gap Junction Protein, Beta 6, 30kDa 2 3
  • Connexin 30 2 3
  • Connexin-30 3 4
  • CX30 3 4
  • Gap Junction Protein, Beta 6 2
  • DFNA3B 3
  • DFNB1B 3
  • DFNA3 3
  • ECTD2 3
  • HED2 3
  • HED 3
  • EDH 3
  • ED2 3

External Ids for GJB6 Gene

Previous HGNC Symbols for GJB6 Gene

  • DFNA3
  • ED2

Previous GeneCards Identifiers for GJB6 Gene

  • GC13M018776
  • GC13M014776
  • GC13M019726
  • GC13M018594
  • GC13M019694
  • GC13M020796
  • GC13M001601

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) is a Protein Coding gene. Diseases associated with GJB6 include Ectodermal Dysplasia 2, Clouston Type and Deafness, Autosomal Dominant 3B. Among its related pathways are Myometrial Relaxation and Contraction Pathways and Gap junction trafficking. An important paralog of this gene is GJC2.

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 (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 GJB6 Gene

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

Genomics for GJB6 Gene

Regulatory Elements for GJB6 Gene

Enhancers for GJB6 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 GJB6 on UCSC Golden Path with GeneCards custom track

Promoters for GJB6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GJB6 on UCSC Golden Path with GeneCards custom track

Genomic Location for GJB6 Gene

Chromosome:
13
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

Genes around GJB6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GJB6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GJB6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 & Families for GJB6 Gene

Gene Families for GJB6 Gene

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 :
  • 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 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.
genes like me logo Genes that share phenotypes with GJB6: view

Human Phenotype Ontology for GJB6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GJB6 Gene

MGI Knock Outs for GJB6:

Animal Model Products

miRNA for GJB6 Gene

miRTarBase miRNAs that target GJB6

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
cytosol 2
extracellular 2
lysosome 2
mitochondrion 2
vacuole 2
golgi apparatus 1
nucleus 1

Gene Ontology (GO) - Cellular Components for GJB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016324 apical plasma membrane IEA --
GO:0030054 cell junction IDA --
genes like me logo Genes that share ontologies with GJB6: view

Pathways & Interactions 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:0007605 sensory perception of sound IEA --
GO:0008285 negative regulation of cell proliferation IEA --
GO:0032496 response to lipopolysaccharide IEA --
genes like me logo Genes that share ontologies with GJB6: view

No data available for SIGNOR curated interactions for GJB6 Gene

Drugs & Compounds for GJB6 Gene

(9) Drugs for GJB6 Gene - From: DGIdb, IUPHAR, and Tocris

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
Ca<sup>2+</sup> Pharma Activator 0
octanol Pharma Inhibitor 0
10Panx Pharma Panx-1 mimetic inhibitor, Panx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions 0

(5) 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 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
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 (x10.1) and Vagina (x6.3).

Protein differential expression in normal tissues from HIPED for GJB6 Gene

This gene is overexpressed in Heart (48.9) and Frontal cortex (20.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with GJB6: view

Protein tissue co-expression partners for GJB6 Gene

- Elite partner

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia GJB6 35
  • 99.36 (n)
  • 100 (a)
GJB6 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gjb6 35
  • 86.21 (n)
  • 94.64 (a)
oppossum
(Monodelphis domestica)
Mammalia GJB6 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GJB6 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves GJB6 35
  • 73.31 (n)
  • 73.56 (a)
-- 36
  • 74 (a)
ManyToMany
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

(15) 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
VAR_008711 Deafness, autosomal dominant, 3B (DFNA3B)
VAR_015696 Ectodermal dysplasia 2, Clouston type (ECTD2)
rs28937872 Ectodermal dysplasia 2, Clouston type (ECTD2) 20,223,218(-) CCCAG(C/T)GCTGC reference, missense
VAR_016838 Ectodermal dysplasia 2, Clouston type (ECTD2)
VAR_022424 -

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

Variation tolerance for GJB6 Gene

Residual Variation Intolerance Score: 43.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.15; 23.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GJB6 Gene

Human Gene Mutation Database (HGMD)
GJB6

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

Disorders for GJB6 Gene

MalaCards: The human disease database

(44) MalaCards diseases for GJB6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ectodermal dysplasia 2, clouston type
  • ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive
deafness, autosomal dominant 3b
  • dfna3b
deafness, autosomal recessive 1b
  • deafness, autosomal recessive, 1b
deafness, autosomal recessive 1a
  • deafness, digenic, gjb2/gjb3
kid syndrome
  • keratitis-ichthyosis-deafness syndrome
- elite association - COSMIC cancer census association via MalaCards
Search GJB6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CXB6_HUMAN
  • 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.
  • 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.
  • 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.

Relevant External Links for GJB6

Genetic Association Database (GAD)
GJB6
Human Genome Epidemiology (HuGE) Navigator
GJB6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GJB6
genes like me logo Genes that share disorders with GJB6: view

No data available for Genatlas for GJB6 Gene

Publications for GJB6 Gene

  1. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. (PMID: 10471490) Grifa A. … Gasparini P. (Nat. Genet. 1999) 2 3 4 67
  2. Melanoma progression exhibits a significant impact on connexin expression patterns in the epidermal tumor microenvironment. (PMID: 19844737) Haass N.K. … Brandner J.M. (Histochem. Cell Biol. 2010) 3 23
  3. Pediatric cholesteatoma and variants in the gene encoding connexin 26. (PMID: 19877196) James A.L. … Stockley T.L. (Laryngoscope 2010) 3 23
  4. 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
  5. 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

Products for GJB6 Gene

Sources for GJB6 Gene

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