PDE6H [The Human Chemical-Genetic Interaction Map Project]

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======= PDE6H =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: PDE6H
  * **<color #00a2e8>Official Name</color>**: phosphodiesterase 6H
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=5149|5149]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q13956|Q13956]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PDE6H&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PDE6H|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/601190|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq, Mar 2010]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones.

<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'>
|PDE6 gamma|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|cGMP binding|
|3,5-cyclic-GMP phosphodiesterase activity|
|photoreceptor outer segment membrane|
|positive regulation of G protein-coupled receptor signaling pathway|
|positive regulation of epidermal growth factor receptor signaling pathway|
|enzyme inhibitor activity|
|positive regulation of ERBB signaling pathway|
|regulation of epidermal growth factor receptor signaling pathway|
|regulation of ERBB signaling pathway|
|regulation of G protein-coupled receptor signaling pathway|
|activation of MAPK activity|
|visual perception|
|sensory perception of light stimulus|
|positive regulation of MAP kinase activity|
|activation of protein kinase activity|
|positive regulation of protein serine/threonine kinase activity|
|regulation of MAP kinase activity|
|regulation of protein serine/threonine kinase activity|
|positive regulation of protein kinase activity|
|positive regulation of MAPK cascade|
|positive regulation of kinase activity|
|positive regulation of transferase activity|
|regulation of MAPK cascade|
|negative regulation of catalytic activity|
|regulation of protein kinase activity|
|regulation of kinase activity|
|sensory perception|
|regulation of transferase activity|
|positive regulation of protein phosphorylation|
|positive regulation of intracellular signal transduction|
|positive regulation of phosphorylation|
|positive regulation of phosphorus metabolic process|
|positive regulation of phosphate metabolic process|
|negative regulation of molecular function|
|positive regulation of protein modification process|
|nervous system process|
|positive regulation of catalytic activity|
|regulation of protein phosphorylation|
|regulation of phosphorylation|
|positive regulation of cellular protein metabolic process|
|positive regulation of signal transduction|
|positive regulation of protein metabolic process|
|positive regulation of molecular function|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|positive regulation of cell communication|
|positive regulation of signaling|
|regulation of intracellular signal transduction|
|regulation of protein modification 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:exp376|Losmapimod 1μM R07 exp376]]|1.77|
|[[:results:exp359|FK-506 30μM R07 exp359]]|1.91|
</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>**: 17330
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -4.6 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='PDE6H Expression in NALM6 Cells: -4.6'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>