PMP22 [The Human Chemical-Genetic Interaction Map Project]

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======= PMP22 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: PMP22
  * **<color #00a2e8>Official Name</color>**: peripheral myelin protein 22
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=5376|5376]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q01453|Q01453]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PMP22&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PMP22|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/601097|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Might be involved in growth regulation, and in myelinization in the peripheral nervous system.

<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'>
|PMP22 Claudin|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|compact myelin|
|bleb assembly|
|myelin assembly|
|peripheral nervous system development|
|cellular component assembly involved in morphogenesis|
|myelination|
|axon ensheathment|
|ensheathment of neurons|
|bicellular tight junction|
|negative regulation of neuron projection development|
|negative regulation of cell projection organization|
|negative regulation of neuron differentiation|
|negative regulation of neurogenesis|
|negative regulation of nervous system development|
|negative regulation of cell development|
|anterograde trans-synaptic signaling|
|chemical synaptic transmission|
|trans-synaptic signaling|
|plasma membrane bounded cell projection assembly|
|cell projection assembly|
|synaptic signaling|
|regulation of neuron projection development|
|regulation of neuron differentiation|
|negative regulation of cell population proliferation|
|regulation of plasma membrane bounded cell projection organization|
|negative regulation of cellular component organization|
|regulation of cell projection organization|
|negative regulation of cell differentiation|
|regulation of neurogenesis|
|cellular component morphogenesis|
|anatomical structure formation involved in morphogenesis|
|regulation of nervous system development|
|regulation of cell development|
|negative regulation of developmental process|
|cell death|
|cell-cell signaling|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|negative regulation of multicellular organismal process|
|generation of neurons|
|regulation of cell population proliferation|
|neurogenesis|
|regulation of cell differentiation|
</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:exp215|Colchicine 0.009μM R05 exp215]]|-1.97|
|[[:results:exp456|Benzoate 20000μM R08 exp456]]|-1.9|
|[[:results:exp122|Golgicide-A 4μM R03 exp122]]|1.79|
|[[:results:exp61|YM155 0.0002μM R01 exp61]]|1.81|
|[[:results:exp58|UM131593 0.1μM R01 exp58]]|2.79|
</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>**: 18160
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.11 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='PMP22 Expression in NALM6 Cells: 4.11'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>