======= DYNC2H1 ======= == Gene Information == * **Official Symbol**: DYNC2H1 * **Official Name**: dynein cytoplasmic 2 heavy chain 1 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=79659|79659]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q8NCM8|Q8NCM8]] * **Interactions**: [[https://thebiogrid.org/search.php?search=DYNC2H1&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20DYNC2H1|Open PubMed]] * **OMIM**: [[https://omim.org/entry/603297|Open OMIM]] == Function Summary == * **Entrez Summary**: 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]. * **UniProt Summary**: N/A |AAA 8| |AAA 6| |AAA 9| |MT| |Dynein heavy| |AAA 5| |DHC N2| |DHC N1| |AAA 7| |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| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp435|JQ1 0.8μM R08 exp435]]|1.73| |[[:results:exp308|Rapamycin 2μM plus FK-506 5μM R07 exp308]]|1.81| No correlation found to any other genes in chemogenomics. 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| == Essentiality in NALM6 == * **Essentiality Rank**: 17851 * **Expression level (log2 read counts)**: -6.02 {{:chemogenomics:nalm6 dist.png?nolink |}}