CCDC40 [The Human Chemical-Genetic Interaction Map Project]

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======= CCDC40 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: CCDC40
  * **<color #00a2e8>Official Name</color>**: coiled-coil domain containing 40
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=55036|55036]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q4G0X9|Q4G0X9]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CCDC40&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CCDC40|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/613799|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella (PubMed:21131974). Probably acts together with CCDC39 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella (By similarity). Not required for outer dynein arm complexes assembly. Required for axonemal recruitment of CCDC39 (PubMed:21131974). {ECO:0000250|UniProtKB:A8IQT2, ECO:0000269|PubMed:21131974}.

<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'>
|BRE1|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|determination of pancreatic left/right asymmetry|
|determination of liver left/right asymmetry|
|determination of digestive tract left/right asymmetry|
|epithelial cilium movement involved in determination of left/right asymmetry|
|regulation of cilium beat frequency|
|inner dynein arm assembly|
|regulation of cilium movement|
|motile cilium assembly|
|epithelial cilium movement involved in extracellular fluid movement|
|extracellular transport|
|regulation of microtubule-based movement|
|axonemal dynein complex assembly|
|cilium movement|
|heart looping|
|axoneme assembly|
|determination of heart left/right asymmetry|
|embryonic heart tube morphogenesis|
|sperm motility|
|flagellated sperm motility|
|pancreas development|
|embryonic heart tube development|
|microtubule bundle formation|
|cilium-dependent cell motility|
|cilium or flagellum-dependent cell motility|
|axoneme|
|determination of left/right symmetry|
|determination of bilateral symmetry|
|specification of symmetry|
|liver development|
|hepaticobiliary system development|
|digestive tract development|
|digestive system development|
|lung development|
|respiratory tube development|
|microtubule-based transport|
|respiratory system development|
|cilium|
|regulation of microtubule-based process|
|heart morphogenesis|
|microtubule-based movement|
|embryonic organ morphogenesis|
|epithelial tube morphogenesis|
|cilium assembly|
|cilium organization|
|gland development|
|morphogenesis of an epithelium|
|embryonic organ development|
|pattern specification process|
|plasma membrane bounded cell projection assembly|
|cell projection assembly|
|microtubule cytoskeleton organization|
|heart development|
|tissue morphogenesis|
|embryonic morphogenesis|
|tube morphogenesis|
|microtubule-based process|
|organelle assembly|
|molecular function|
|cellular protein-containing complex assembly|
|tube development|
|circulatory system development|
|animal organ morphogenesis|
|embryo development|
|regulation of cellular component movement|
|cell motility|
|localization of cell|
|cytoskeleton organization|
|epithelium development|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|locomotion|
|reproductive process|
|reproduction|
|movement of cell or subcellular component|
|protein-containing complex assembly|
|tissue development|
|protein-containing complex subunit organization|
|extracellular region|
</modal>
\\

 === CRISPR Data ===
<button type='default' 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'>
No hits were found.
</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>**: 5946
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 2.78 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='CCDC40 Expression in NALM6 Cells: 2.78'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>