USH2A [The Human Chemical-Genetic Interaction Map Project]

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======= USH2A =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: USH2A
  * **<color #00a2e8>Official Name</color>**: usherin
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=7399|7399]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O75445|O75445]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=USH2A&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20USH2A|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/608400|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Involved in hearing and vision.

<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'>
|fn3|
|Laminin EGF|
|Laminin G 2|
|Laminin G 1|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|USH2 complex|
|maintenance of animal organ identity|
|stereocilium membrane|
|stereocilia ankle link|
|stereocilium bundle|
|periciliary membrane compartment|
|stereocilia ankle link complex|
|myosin binding|
|hair cell differentiation|
|photoreceptor cell maintenance|
|photoreceptor connecting cilium|
|terminal bouton|
|photoreceptor inner segment|
|inner ear receptor cell differentiation|
|mechanoreceptor differentiation|
|collagen binding|
|retina homeostasis|
|basement membrane|
|ciliary basal body|
|retina development in camera-type eye|
|sensory perception of sound|
|sensory perception of mechanical stimulus|
|tissue homeostasis|
|inner ear development|
|ear development|
|visual perception|
|sensory perception of light stimulus|
|camera-type eye development|
|epidermal cell differentiation|
|apical plasma membrane|
|multicellular organismal homeostasis|
|anatomical structure homeostasis|
|eye development|
|visual system development|
|sensory system development|
|neuronal cell body|
|epidermis development|
|sensory organ development|
|epithelial cell differentiation|
|negative regulation of cell differentiation|
|protein homodimerization activity|
|negative regulation of developmental process|
|animal organ morphogenesis|
|sensory perception|
|neuron differentiation|
|epithelium development|
|nervous system process|
|generation of neurons|
|establishment of protein localization|
|neurogenesis|
|homeostatic process|
|tissue development|
|regulation of cell differentiation|
|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:exp321|ABT-702 5μM plus Deferoxamine 11μM R07 exp321]]|-1.89|
|[[:results:exp90|WYE-354 6μM R02 exp90]]|-1.82|
</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>**: 4139
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -1.24 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='USH2A Expression in NALM6 Cells: -1.24'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>