C2CD3 [The Human Chemical-Genetic Interaction Map Project]

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======= C2CD3 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: C2CD3
  * **<color #00a2e8>Official Name</color>**: C2 domain containing 3 centriole elongation regulator
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=26005|26005]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q4AC94|Q4AC94]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=C2CD3&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20C2CD3|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/615944|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a protein that functions as a regulator of centriole elongation. Studies of the orthologous mouse protein show that it promotes centriolar distal appendage assembly and is also required for the recruitment of other ciliogenic proteins, including intraflagellar transport proteins. Mutations in this gene cause orofaciodigital syndrome XIV (OFD14), a ciliopathy resulting in malformations of the oral cavity, face and digits. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]. 
  * **<color #00a2e8>UniProt Summary</color>**: N/A

<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'>
|neural plate axis specification|
|centriole elongation|
|neural plate pattern specification|
|neural plate development|
|centriole replication|
|protein localization to microtubule organizing center|
|protein localization to centrosome|
|centriole assembly|
|centrosome duplication|
|centriolar satellite|
|protein localization to microtubule cytoskeleton|
|embryonic axis specification|
|protein localization to cytoskeleton|
|non-motile cilium assembly|
|heart looping|
|embryonic digit morphogenesis|
|embryonic pattern specification|
|determination of heart left/right asymmetry|
|embryonic heart tube morphogenesis|
|embryonic heart tube development|
|regulation of smoothened signaling pathway|
|centrosome cycle|
|axis specification|
|microtubule organizing center organization|
|ciliary basal body-plasma membrane docking|
|determination of left/right symmetry|
|determination of bilateral symmetry|
|specification of symmetry|
|embryonic appendage morphogenesis|
|embryonic limb morphogenesis|
|ciliary basal body|
|centriole|
|appendage morphogenesis|
|limb morphogenesis|
|protein processing|
|neural tube development|
|organelle localization by membrane tethering|
|membrane docking|
|limb development|
|appendage development|
|protein maturation|
|heart morphogenesis|
|embryonic organ morphogenesis|
|epithelial tube morphogenesis|
|cilium assembly|
|cilium organization|
|in utero embryonic development|
|morphogenesis of an epithelium|
|embryonic organ development|
|pattern specification process|
|plasma membrane bounded cell projection assembly|
|cell projection assembly|
|microtubule cytoskeleton organization|
|centrosome|
|heart development|
|tissue morphogenesis|
|embryonic morphogenesis|
|organelle localization|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|tube morphogenesis|
|microtubule-based process|
|regulation of proteolysis|
|protein localization to organelle|
|brain development|
|organelle assembly|
|head development|
|tube development|
|circulatory system development|
|animal organ morphogenesis|
|embryo development|
|central nervous system development|
|cell cycle process|
|cytoskeleton organization|
|epithelium development|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|proteolysis|
|cell cycle|
|cellular protein localization|
|cellular macromolecule localization|
|tissue development|
|gene expression|
</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:exp228|Demecolcine 0.03μM R05 exp228]]|-1.96|
|[[:results:exp175|3-Bromopyruvate 7μM R04 exp175]]|1.78|
|[[:results:exp506|Momordin-Ic 10μM R08 exp506]]|1.82|
|[[:results:exp80|RO-3307 4.7μM R02 exp80]]|4.06|
|[[:results:exp374|Latrunculin-B 10μM R07 exp374]]|6.04|
|[[:results:exp349|Cytochalasin-B 5μM R07 exp349]]|6.67|
|[[:results:exp414|Tozasertib 0.1μM R07 exp414]]|7.94|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:c:cradd|CRADD]]|0.763|
|[[:human genes:c:casp2|CASP2]]|0.723|
|[[:human genes:p:pidd|PIDD]]|0.722|
|[[:human genes:k:kiaa0753|KIAA0753]]|0.714|
|[[:human genes:p:pibf1|PIBF1]]|0.689|
|[[:human genes:c:cep120|CEP120]]|0.68|
|[[:human genes:o:odf2|ODF2]]|0.661|
|[[:human genes:c:ccdc41|CCDC41]]|0.66|
|[[:human genes:o:ofd1|OFD1]]|0.645|
|[[:human genes:c:c16orf59|C16orf59]]|0.634|
|[[:human genes:a:ankrd26|ANKRD26]]|0.628|
|[[:human genes:c:c14orf80|C14orf80]]|0.62|
|[[:human genes:c:cep76|CEP76]]|0.615|
|[[:human genes:s:sclt1|SCLT1]]|0.614|
|[[:human genes:f:fopnl|FOPNL]]|0.6|
|[[:human genes:n:nin|NIN]]|0.599|
|[[:human genes:c:cep128|CEP128]]|0.598|
|[[:human genes:t:tubd1|TUBD1]]|0.568|
|[[:human genes:t:tube1|TUBE1]]|0.523|
|[[:human genes:c:cep78|CEP78]]|0.522|
|[[:human genes:r:rttn|RTTN]]|0.512|
|[[:human genes:h:hyls1|HYLS1]]|0.495|
|[[:human genes:c:cep44|CEP44]]|0.494|
|[[:human genes:c:cep152|CEP152]]|0.47|
|[[:human genes:i:ipp|IPP]]|0.459|
|[[:human genes:c:cenpj|CENPJ]]|0.429|
|[[:human genes:w:wbp11|WBP11]]|0.415|
|[[:human genes:f:fgfr1op|FGFR1OP]]|0.414|
|[[:human genes:s:srp9|SRP9]]|0.404|
</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>**: 7520
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.32 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='C2CD3 Expression in NALM6 Cells: 6.32'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>