CC2D2A [The Human Chemical-Genetic Interaction Map Project]

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======= CC2D2A =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: CC2D2A
  * **<color #00a2e8>Official Name</color>**: coiled-coil and C2 domain containing 2A
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=57545|57545]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9P2K1|Q9P2K1]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CC2D2A&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CC2D2A|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/612013|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity). {ECO:0000250, ECO:0000269|PubMed:18513680}.

<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'>
|protein localization to ciliary transition zone|
|embryonic brain development|
|MKS complex|
|motile cilium assembly|
|ciliary transition zone|
|non-motile cilium assembly|
|protein localization to cilium|
|axoneme assembly|
|smoothened signaling pathway|
|neural tube closure|
|microtubule bundle formation|
|tube closure|
|ciliary basal body-plasma membrane docking|
|primary neural tube formation|
|neural tube formation|
|determination of left/right symmetry|
|embryonic epithelial tube formation|
|determination of bilateral symmetry|
|specification of symmetry|
|epithelial tube formation|
|morphogenesis of embryonic epithelium|
|tube formation|
|neural tube development|
|organelle localization by membrane tethering|
|membrane docking|
|epithelial tube morphogenesis|
|camera-type eye development|
|cilium assembly|
|eye development|
|visual system development|
|cytoskeleton|
|sensory system development|
|cilium organization|
|morphogenesis of an epithelium|
|embryonic organ development|
|pattern specification process|
|plasma membrane bounded cell projection assembly|
|cell projection assembly|
|microtubule cytoskeleton organization|
|heart development|
|sensory organ development|
|tissue morphogenesis|
|embryonic morphogenesis|
|organelle localization|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|tube morphogenesis|
|microtubule-based process|
|protein localization to organelle|
|organelle assembly|
|tube development|
|circulatory system development|
|anatomical structure formation involved in morphogenesis|
|embryo development|
|cytoskeleton organization|
|epithelium development|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|cellular protein localization|
|cellular macromolecule localization|
|tissue development|
</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:exp224|CB-839 10μM R05 exp224]]|-1.89|
|[[:results:exp7|Bortezomib 0.05μM R00 exp7]]|1.78|
|[[:results:exp306|Rapamycin 2μM R07 exp306]]|1.89|
|[[:results:exp94|Nocodazole 0.1μM R03 exp94]]|1.9|
</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>**: 13856
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 2.7 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='CC2D2A Expression in NALM6 Cells: 2.7'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>