GJB2 [The Human Chemical-Genetic Interaction Map Project]

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======= GJB2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: GJB2
  * **<color #00a2e8>Official Name</color>**: gap junction protein beta 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2706|2706]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P29033|P29033]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=GJB2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20GJB2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/121011|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**: N/A

<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 CCC|
|Connexin|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|response to human chorionic gonadotropin|
|epididymis development|
|gap junction-mediated intercellular transport|
|intercellular transport|
|gap junction assembly|
|astrocyte projection|
|gap junction channel activity|
|connexin complex|
|decidualization|
|cellular response to glucagon stimulus|
|response to gonadotropin|
|cellular response to dexamethasone stimulus|
|maternal placenta development|
|response to glucagon|
|response to dexamethasone|
|response to progesterone|
|response to ischemia|
|cellular response to glucocorticoid stimulus|
|lateral plasma membrane|
|cellular response to corticosteroid stimulus|
|maternal process involved in female pregnancy|
|cell body|
|endoplasmic reticulum-Golgi intermediate compartment|
|cellular response to ketone|
|response to antineoplastic agent|
|cell-cell junction assembly|
|response to retinoic acid|
|response to estradiol|
|cell-cell junction organization|
|response to glucocorticoid|
|sensory perception of sound|
|placenta development|
|response to corticosteroid|
|sensory perception of mechanical stimulus|
|cell junction assembly|
|female pregnancy|
|cellular response to xenobiotic stimulus|
|cellular response to steroid hormone stimulus|
|inner ear development|
|response to ketone|
|multi-multicellular organism process|
|cell junction organization|
|ear development|
|cellular response to oxidative stress|
|cellular response to peptide hormone stimulus|
|aging|
|response to xenobiotic stimulus|
|response to antibiotic|
|response to lipopolysaccharide|
|cellular response to peptide|
|response to molecule of bacterial origin|
|response to steroid hormone|
|response to acid chemical|
|response to oxidative stress|
|response to peptide hormone|
|cellular response to drug|
|reproductive structure development|
|reproductive system development|
|response to peptide|
|cellular response to lipid|
|cellular response to organic cyclic compound|
|sensory organ development|
|cellular response to organonitrogen compound|
|cellular response to hormone stimulus|
|cellular response to nitrogen compound|
|developmental process involved in reproduction|
|response to bacterium|
|perinuclear region of cytoplasm|
|calcium ion binding|
|multicellular organismal reproductive process|
|multicellular organism reproduction|
|tube development|
|response to lipid|
|response to hormone|
|response to organic cyclic compound|
|sensory perception|
|multi-organism reproductive process|
|response to organonitrogen compound|
|response to drug|
|cellular response to oxygen-containing compound|
|identical protein binding|
|response to nitrogen compound|
|cell-cell signaling|
|cellular response to endogenous stimulus|
|transmembrane transport|
|response to other organism|
|response to external biotic stimulus|
|response to biotic stimulus|
|nervous system process|
|integral component of plasma membrane|
|reproductive process|
|reproduction|
|response to endogenous stimulus|
|response to oxygen-containing compound|
|cellular response to stress|
|tissue development|
|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:exp18|Doxycycline 10μM R00 exp18]]|-1.82|
</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: 0/739
^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|0/17|
|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>**: 4242
    * **<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='GJB2 Expression in NALM6 Cells: -7.68'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>