CIB2 [The Human Chemical-Genetic Interaction Map Project]

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======= CIB2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: CIB2
  * **<color #00a2e8>Official Name</color>**: calcium and integrin binding family member 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=10518|10518]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O75838|O75838]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CIB2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CIB2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/605564|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Calcium-binding protein critical for proper photoreceptor cell maintenance and function. Plays a role in intracellular calcium homeostasis by decreasing ATP-induced calcium release (PubMed:23023331, PubMed:26173970, PubMed:26426422). May be involved in the mechanotransduction process (By similarity). {ECO:0000250, ECO:0000269|PubMed:23023331, ECO:0000269|PubMed:26173970, ECO:0000269|PubMed:26426422}.

<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'>
|muscle tendon junction|
|cuticular plate|
|cellular response to ATP|
|response to ATP|
|stereocilium|
|photoreceptor cell maintenance|
|photoreceptor inner segment|
|photoreceptor outer segment|
|cellular response to nutrient|
|retina homeostasis|
|neuromuscular junction|
|sarcolemma|
|integrin binding|
|response to organophosphorus|
|blood microparticle|
|response to purine-containing compound|
|tissue homeostasis|
|response to nutrient|
|magnesium ion binding|
|cellular response to nutrient levels|
|cellular response to extracellular stimulus|
|positive regulation of cytosolic calcium ion concentration|
|multicellular organismal homeostasis|
|regulation of cytosolic calcium ion concentration|
|cellular response to external stimulus|
|anatomical structure homeostasis|
|cellular response to drug|
|cellular calcium ion homeostasis|
|calcium ion homeostasis|
|cellular divalent inorganic cation homeostasis|
|divalent inorganic cation homeostasis|
|response to nutrient levels|
|response to extracellular stimulus|
|cellular response to organic cyclic compound|
|cellular metal ion homeostasis|
|cellular response to organonitrogen compound|
|metal ion homeostasis|
|cellular cation homeostasis|
|cellular ion homeostasis|
|cellular response to nitrogen compound|
|cation homeostasis|
|inorganic ion homeostasis|
|calcium ion binding|
|cellular chemical homeostasis|
|ion homeostasis|
|protein homodimerization activity|
|cellular homeostasis|
|response to organic cyclic compound|
|response to organonitrogen compound|
|response to drug|
|cellular response to oxygen-containing compound|
|response to nitrogen compound|
|chemical homeostasis|
|cellular response to endogenous stimulus|
|response to endogenous stimulus|
|response to oxygen-containing compound|
|homeostatic 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:exp148|SB202190 10μM R03 exp148]]|-1.88|
|[[:results:exp357|Dorsomorphin 5μM R07 exp357]]|-1.84|
|[[:results:exp506|Momordin-Ic 10μM R08 exp506]]|-1.71|
|[[:results:exp29|Rapamycin 1μM R00 exp29]]|1.88|
|[[:results:exp42|BI-6727 0.001μM R01 exp42]]|2.06|
</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>**: 10641
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -3.8 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='CIB2 Expression in NALM6 Cells: -3.8'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>