JPH3 [The Human Chemical-Genetic Interaction Map Project]

This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong.
======= JPH3 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: JPH3
  * **<color #00a2e8>Official Name</color>**: junctophilin 3
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=57338|57338]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q8WXH2|Q8WXH2]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=JPH3&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20JPH3|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/605268|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH3 is brain- specific and appears to have an active role in certain neurons involved in motor coordination and memory.

<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'>
|MORN|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|junctional membrane complex|
|junctional sarcoplasmic reticulum membrane|
|calcium-release channel activity|
|exploration behavior|
|regulation of ryanodine-sensitive calcium-release channel activity|
|neuromuscular process controlling balance|
|regulation of neuronal synaptic plasticity|
|release of sequestered calcium ion into cytosol|
|negative regulation of sequestering of calcium ion|
|calcium ion transmembrane import into cytosol|
|calcium ion transport into cytosol|
|regulation of release of sequestered calcium ion into cytosol|
|regulation of calcium ion transmembrane transporter activity|
|cytosolic calcium ion transport|
|regulation of calcium-mediated signaling|
|regulation of calcium ion transport into cytosol|
|neuromuscular process|
|memory|
|regulation of sequestering of calcium ion|
|learning|
|regulation of calcium ion transmembrane transport|
|regulation of cation channel activity|
|regulation of synaptic plasticity|
|calcium ion transmembrane transport|
|regulation of calcium ion transport|
|calcium ion transport|
|regulation of ion transmembrane transporter activity|
|learning or memory|
|regulation of transmembrane transporter activity|
|regulation of transporter activity|
|positive regulation of cytosolic calcium ion concentration|
|divalent metal ion transport|
|cognition|
|divalent inorganic cation transport|
|regulation of cytosolic calcium ion concentration|
|regulation of cation transmembrane transport|
|regulation of metal ion transport|
|cellular calcium ion homeostasis|
|modulation of chemical synaptic transmission|
|regulation of trans-synaptic signaling|
|calcium ion homeostasis|
|cellular divalent inorganic cation homeostasis|
|regulation of ion transmembrane transport|
|divalent inorganic cation homeostasis|
|cellular metal ion homeostasis|
|inorganic cation transmembrane transport|
|regulation of transmembrane transport|
|behavior|
|cation transmembrane transport|
|metal ion homeostasis|
|cellular cation homeostasis|
|metal ion transport|
|cellular ion homeostasis|
|inorganic ion transmembrane transport|
|regulation of ion transport|
|cation homeostasis|
|inorganic ion homeostasis|
|cellular chemical homeostasis|
|molecular function|
|ion homeostasis|
|cation transport|
|cellular homeostasis|
|regulation of cellular localization|
|endoplasmic reticulum membrane|
|ion transmembrane transport|
|endoplasmic reticulum|
|chemical homeostasis|
|transmembrane transport|
|locomotion|
|ion transport|
|nervous system process|
|homeostatic process|
|regulation of intracellular signal transduction|
|establishment of localization in cell|
|regulation of transport|
|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:exp112|S-DABN 8μM R03 exp112]]|2.04|
</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>**: 6819
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 0.11 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='JPH3 Expression in NALM6 Cells: 0.11'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>