DYNC2H1 [The Human Chemical-Genetic Interaction Map Project]

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======= DYNC2H1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: DYNC2H1
  * **<color #00a2e8>Official Name</color>**: dynein cytoplasmic 2 heavy chain 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=79659|79659]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q8NCM8|Q8NCM8]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=DYNC2H1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20DYNC2H1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/603297|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]. 
  * **<color #00a2e8>UniProt Summary</color>**: N/A

<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'>
|AAA 8|
|AAA 6|
|AAA 9|
|MT|
|Dynein heavy|
|AAA 5|
|DHC N2|
|DHC N1|
|AAA 7|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|intraciliary retrograde transport|
|ATP-dependent microtubule motor activity, minus-end-directed|
|cytoplasmic dynein complex|
|dynein complex|
|dynein light chain binding|
|dynein intermediate chain binding|
|dynein light intermediate chain binding|
|positive regulation of smoothened signaling pathway|
|spinal cord motor neuron differentiation|
|intraciliary transport involved in cilium assembly|
|non-motile cilium assembly|
|motor activity|
|ciliary tip|
|coronary vasculature development|
|protein localization to cilium|
|ventral spinal cord development|
|intraciliary transport|
|cell differentiation in spinal cord|
|protein transport along microtubule|
|microtubule-based protein transport|
|apical part of cell|
|regulation of smoothened signaling pathway|
|dorsal/ventral pattern formation|
|motile cilium|
|axoneme|
|spinal cord development|
|determination of left/right symmetry|
|determination of bilateral symmetry|
|specification of symmetry|
|embryonic limb morphogenesis|
|embryonic appendage morphogenesis|
|Golgi organization|
|limb morphogenesis|
|appendage morphogenesis|
|transport along microtubule|
|protein processing|
|cytoskeleton-dependent intracellular transport|
|central nervous system neuron differentiation|
|appendage development|
|limb development|
|microtubule-based transport|
|cilium|
|protein maturation|
|protein-containing complex localization|
|microtubule-based movement|
|microtubule|
|regionalization|
|cilium assembly|
|cilium organization|
|forebrain development|
|endomembrane system organization|
|pattern specification process|
|plasma membrane bounded cell projection assembly|
|cell projection assembly|
|blood vessel development|
|vasculature development|
|cardiovascular system development|
|heart development|
|embryonic morphogenesis|
|microtubule-based process|
|protein localization to organelle|
|brain development|
|organelle assembly|
|head development|
|circulatory system development|
|embryo development|
|central nervous system development|
|Golgi apparatus|
|intracellular protein transport|
|neuron differentiation|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|proteolysis|
|ATP binding|
|protein transport|
|intracellular transport|
|generation of neurons|
|peptide transport|
|movement of cell or subcellular component|
|amide transport|
|cellular protein localization|
|cellular macromolecule localization|
|establishment of protein localization|
|neurogenesis|
|positive regulation of signal transduction|
|positive regulation of cell communication|
|positive regulation of signaling|
|establishment of localization in cell|
|nitrogen compound transport|
|gene expression|
</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:exp435|JQ1 0.8μM R08 exp435]]|1.73|
|[[:results:exp308|Rapamycin 2μM plus FK-506 5μM R07 exp308]]|1.81|
</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>**: 17851
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -6.02 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='DYNC2H1 Expression in NALM6 Cells: -6.02'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>