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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]
GJB6 (Gap Junction Protein Beta 6) is a Protein Coding gene. Diseases associated with GJB6 include Clouston Syndrome and Deafness, Autosomal Dominant 3B. Among its related pathways are Gap junction trafficking and Vesicle-mediated transport. An important paralog of this gene is GJB2.
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).
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH13J020231 | Promoter | 0.8 | EPDnew Ensembl | 607.1 | +0.2 | 194 | 0.8 | CTCF EZH2 | GJB6 lnc-GJB2-2 ENSG00000279065 GJB2 lnc-ZMYM2-10 | |
GH13J020247 | Promoter/Enhancer | 0.6 | EPDnew Ensembl | 610.2 | -15.1 | -15106 | 1.8 | HLF | GJB6 HSALNG0095525 piR-61289-025 lnc-GJB6-1 CRYL1 | |
GH13J020405 | Enhancer | 0.7 | FANTOM5 ENCODE dbSUPER | 7 | -173.4 | -173440 | 0.9 | TEAD4 POLR2A TBP | GJB2 GJB6 HSALNG0095531 MN309174-128 CRYL1 | |
GH13J020411 | Enhancer | 1.1 | FANTOM5 Ensembl ENCODE | 4.3 | -179.7 | -179706 | 3 | SP1 TEAD4 RELA IKZF2 TRIM22 EED DPF2 RELB RUNX3 GATAD2B | CRYL1 GJB2 GJB6 piR-41525-133 MIR4499 | |
GH13J020435 | Enhancer | 0.3 | ENCODE | 10.9 | -203.4 | -203402 | 0.2 | USF1 EZH2 | MIR4499 GJB6 piR-61101-130 CRYL1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005243 | gap junction channel activity | IDA | 12767933 |
GO:0008017 | microtubule binding | IDA | 19285977 |
GO:0048487 | beta-tubulin binding | IDA | 19285977 |
GO:0051015 | actin filament binding | IDA | 19285977 |
GO:1903763 | gap junction channel activity involved in cell communication by electrical coupling | IDA | 12767933 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005829 | cytosol | IEA | -- |
GO:0005884 | actin filament | IMP | 19285977 |
GO:0005886 | plasma membrane | IEA | -- |
GO:0005921 | gap junction | NAS | 12767933 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Gap junction trafficking | ||
2 | Vesicle-mediated transport | ||
3 | G-Beta Gamma Signaling |
Signaling in Gap Junctions
.30
|
|
4 | Myometrial Relaxation and Contraction Pathways |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006915 | apoptotic process | IEA | -- |
GO:0007154 | cell communication | IEA | -- |
GO:0007267 | cell-cell signaling | IBA | 21873635 |
GO:0007568 | aging | IEA | -- |
GO:0007605 | sensory perception of sound | TAS,IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Flufenamic acid | Approved | Pharma | Channel blocker, Inhibitor, Pore Blocker, Antagonist | Calcium-activated chloride channel blocker; NSAID. Also activates TRPC6 | 0 | |
Carbenoxolone | Experimental | Pharma | Inhibitor | 0 | ||
octanol | Investigational | Pharma | Inhibitor | 0 | ||
Ca<sup>2+</sup> | Pharma | Activator, Agonist, Full agonist, Inhibitor, Antagonist, Channel blocker | 0 | |||
10Panx | Pharma | Panx-1 mimetic inhibitor, Panx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions | 0 |
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 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d | · | 6e | · | 6f |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||
SP4: | - | - | - | - | |||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GJB6 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GJB6 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GJB6 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gjb6 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gjb6 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | GJB6 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GJB6 30 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
GJB6 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | GJB6 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gjb2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cx30.3 30 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 13 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
663718 | Uncertain Significance: Hidrotic ectodermal dysplasia syndrome; Deafness, autosomal recessive 1A; Deafness, autosomal dominant 3b; Deafness, autosomal recessive 1b | 20,223,180(-) | C/G | MISSENSE_VARIANT | |
672304 | Benign/Likely Benign: Hidrotic ectodermal dysplasia syndrome; not provided | 20,223,123(-) | C/T | MISSENSE_VARIANT | |
712775 | Likely Benign: not provided | 20,223,475(-) | A/G | SYNONYMOUS_VARIANT | |
724026 | Conflicting Interpretations: Hidrotic ectodermal dysplasia syndrome; not provided | 20,223,451(-) | G/A | SYNONYMOUS_VARIANT | |
728700 | Likely Benign: not provided | 20,223,067(-) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1612n100 | CNV | loss | 25217958 |
dgv3072n54 | CNV | loss | 21841781 |
esv2751132 | CNV | loss | 17911159 |
esv3631421 | CNV | gain | 21293372 |
esv3631424 | CNV | gain | 21293372 |
esv3631426 | CNV | gain | 21293372 |
nsv1046946 | CNV | gain | 25217958 |
nsv1078303 | OTHER | inversion | 25765185 |
nsv1140246 | OTHER | inversion | 24896259 |
nsv1151909 | OTHER | inversion | 26484159 |
Disorder | Aliases | PubMed IDs |
---|---|---|
clouston syndrome |
|
|
deafness, autosomal dominant 3b |
|
|
deafness, autosomal recessive 1b |
|
|
deafness, autosomal recessive 1a |
|
|
deafness, x-linked 2 |
|