DYNC2H1

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

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics 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

Expression Distribution

Screen	Score
JQ1 0.8μM R08 exp435	1.73
Rapamycin 2μM plus FK-506 5μM R07 exp308	1.81

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