======= GJB1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: GJB1
  * **<color #00a2e8>Official Name</color>**: gap junction protein beta 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2705|2705]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P08034|P08034]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=GJB1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20GJB1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/304040|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. 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 cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 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 CCC|
|Connexin|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|epididymis development|
|gap junction assembly|
|gap junction channel activity|
|purine ribonucleotide transport|
|purine nucleotide transport|
|connexin complex|
|nucleotide transport|
|lateral plasma membrane|
|carbohydrate derivative transport|
|cell-cell junction assembly|
|organophosphate ester transport|
|cell-cell junction organization|
|cell junction assembly|
|cell junction organization|
|nucleobase-containing compound transport|
|reproductive structure development|
|reproductive system development|
|protein complex oligomerization|
|developmental process involved in reproduction|
|tube development|
|protein homodimerization activity|
|endoplasmic reticulum membrane|
|cell-cell signaling|
|transmembrane transport|
|reproductive process|
|reproduction|
|protein-containing complex assembly|
|nitrogen compound transport|
|protein-containing complex subunit organization|
</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:exp32|Rifampicin 10μM R00 exp32]]|-1.84|
|[[:results:exp153|SGC2096 2.6μM R03 exp153]]|-1.77|
|[[:results:exp156|UNC2400 2μM R03 exp156]]|-1.76|
|[[:results:exp362|GSK-J4 1μM R07 exp362]]|-1.7|
|[[:results:exp84|UM0125461 0.74μM R02 exp84]]|1.72|
|[[:results:exp71|KU-0063794 3.8μM R02 exp71]]|1.9|
</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: 0/694
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/26|
|bone|0/26|
|breast|0/30|
|central nervous system|0/49|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/11|
|fibroblast|0/1|
|gastric|0/14|
|kidney|0/18|
|liver|0/19|
|lung|0/72|
|lymphocyte|0/16|
|ovary|0/25|
|pancreas|0/22|
|peripheral nervous system|0/15|
|plasma cell|0/12|
|prostate|0/1|
|skin|0/20|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/28|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 18539
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -5.01 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='GJB1 Expression in NALM6 Cells: -5.01'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>