======= NPHP4 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: NPHP4
  * **<color #00a2e8>Official Name</color>**: nephrocystin 4
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=261734|261734]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O75161|O75161]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=NPHP4&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20NPHP4|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607215|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module (PubMed:19755384, PubMed:21565611). Does not seem to be strictly required for ciliogenesis (PubMed:21565611). Required for building functional cilia. Involved in the organization of the subapical actin network in multiciliated epithelial cells. Seems to recruit INT to basal bodies of motile cilia which subsequently interacts with actin-modifying proteins such as DAAM1 (By similarity). In cooperation with INVS may downregulate the canonical Wnt pathway and promote the Wnt-PCP pathway by regulating expression and subcellular location of disheveled proteins. Stabilizes protein levels of JADE1 and promotes its translocation to the nucleus leading to cooperative inhibition of canonical Wnt signaling (PubMed:21498478, PubMed:22654112). Acts as negative regulator of the hippo pathway by association with LATS1 and modifying LATS1- dependent phosphorylation and localization of WWTR1/TAZ (PubMed:21555462). {ECO:0000250|UniProtKB:B0DOB4, ECO:0000250|UniProtKB:P59240, ECO:0000269|PubMed:21498478, ECO:0000269|PubMed:21555462, ECO:0000269|PubMed:21565611, ECO:0000269|PubMed:22654112, ECO:0000305|PubMed:19755384}.

<button type='default' 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'>
No Pfam Domain information is available for this gene.
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|ribbon synapse|
|positive regulation of bicellular tight junction assembly|
|protein localization to ciliary transition zone|
|photoreceptor cell outer segment organization|
|regulation of bicellular tight junction assembly|
|hippo signaling|
|ciliary transition zone|
|non-motile cilium|
|positive regulation of cell junction assembly|
|ciliary base|
|photoreceptor cell maintenance|
|photoreceptor connecting cilium|
|protein localization to cilium|
|photoreceptor cell development|
|visual behavior|
|photoreceptor cell differentiation|
|flagellated sperm motility|
|sperm motility|
|retina homeostasis|
|regulation of cell junction assembly|
|cilium or flagellum-dependent cell motility|
|cilium-dependent cell motility|
|ciliary basal body-plasma membrane docking|
|bicellular tight junction|
|ciliary basal body|
|retina development in camera-type eye|
|organelle localization by membrane tethering|
|cell-cell junction|
|negative regulation of canonical Wnt signaling pathway|
|membrane docking|
|tissue homeostasis|
|structural molecule activity|
|negative regulation of Wnt signaling pathway|
|regulation of canonical Wnt signaling pathway|
|response to light stimulus|
|camera-type eye development|
|multicellular organismal homeostasis|
|anatomical structure homeostasis|
|cilium assembly|
|eye development|
|visual system development|
|regulation of Wnt signaling pathway|
|sensory system development|
|cilium organization|
|response to radiation|
|plasma membrane bounded cell projection assembly|
|cell projection assembly|
|centrosome|
|actin cytoskeleton organization|
|cell-cell adhesion|
|positive regulation of cellular component biogenesis|
|sensory organ development|
|actin filament-based process|
|behavior|
|organelle localization|
|protein localization to organelle|
|organelle assembly|
|neuron development|
|cell adhesion|
|biological adhesion|
|regulation of cellular component biogenesis|
|neuron differentiation|
|localization of cell|
|cell motility|
|cytoskeleton organization|
|plasma membrane bounded cell projection organization|
|response to abiotic stimulus|
|cell projection organization|
|positive regulation of cellular component organization|
|negative regulation of signal transduction|
|locomotion|
|negative regulation of cell communication|
|negative regulation of signaling|
|reproductive process|
|reproduction|
|generation of neurons|
|movement of cell or subcellular component|
|cellular protein localization|
|cellular macromolecule localization|
|negative regulation of response to stimulus|
|neurogenesis|
|homeostatic process|
|cell development|
|intracellular signal transduction|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' 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:exp273|Cisplatin 0.35μM R06 exp273]]|1.77|
|[[:results:exp36|TRAIL 50ng/ml R00 exp36]]|1.86|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:r:rrm1|RRM1]]|0.481|
</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>**: 8076
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.77 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='NPHP4 Expression in NALM6 Cells: 4.77'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>