GJB6 [The Human Chemical-Genetic Interaction Map Project]

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======= GJB6 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: GJB6
  * **<color #00a2e8>Official Name</color>**: gap junction protein beta 6
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=10804|10804]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O95452|O95452]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=GJB6&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20GJB6|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/604418|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Connexin|
|Connexin CCC|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|connexin complex|
|response to electrical stimulus|
|cellular response to glucose stimulus|
|cellular response to hexose stimulus|
|cellular response to monosaccharide stimulus|
|cellular response to carbohydrate stimulus|
|cellular glucose homeostasis|
|ear morphogenesis|
|response to glucose|
|response to hexose|
|sensory perception of sound|
|response to monosaccharide|
|sensory perception of mechanical stimulus|
|response to carbohydrate|
|glucose homeostasis|
|carbohydrate homeostasis|
|inner ear development|
|ear development|
|sensory organ morphogenesis|
|aging|
|embryonic organ morphogenesis|
|response to lipopolysaccharide|
|apical plasma membrane|
|response to molecule of bacterial origin|
|embryonic organ development|
|sensory organ development|
|cell junction|
|embryonic morphogenesis|
|negative regulation of cell population proliferation|
|response to bacterium|
|cellular chemical homeostasis|
|response to lipid|
|cellular homeostasis|
|apoptotic process|
|animal organ morphogenesis|
|sensory perception|
|embryo development|
|programmed cell death|
|cellular response to oxygen-containing compound|
|cell death|
|chemical homeostasis|
|response to abiotic stimulus|
|response to other organism|
|response to external biotic stimulus|
|response to biotic stimulus|
|nervous system process|
|response to oxygen-containing compound|
|regulation of cell population proliferation|
|homeostatic process|
|system process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp155|UNC1999 2μM R03 exp155]]|-1.87|
|[[:results:exp493|IL-3 9ng/ml R08 exp493]]|1.93|
|[[:results:exp216|Erlotinib 10μM R05 exp216]]|1.94|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 1/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|1/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 9066
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -7.68 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='GJB6 Expression in NALM6 Cells: -7.68'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>