DYNC2H1

Cilia effects upon perturbation of DYNC2H1

Ciliogenesis screen results (4 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.34) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-4.54) PMID:29459680
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=43, lfc=-2.38) PMID:30270045
• Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-2.21) PMID:41160700

Phenotypes

Mouse phenotype:

preweaning lethality, complete penetrance

Human ciliopathy phenotype:

Short rib-polydactyly syndrome, Verma-Naumoff type; short rib-polydactyly syndrome, Majewski type

Ciliopathy associations

• Cranioectodermal Dysplasia (Sensenbrenner)
• Ellis-van Creveld Syndrome-like phenotype
• Short-Rib Thoracic Dysplasia
• Skeletal Ciliopathy

Subcellular localization

basal body, cytosol, transition zone

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• Metabolism
• T cell biology
• Protein processing & maturation
• Cell migration & adhesion
• Signaling (Hedgehog, GPCRs, ion channels)
• Transition zone

Function

Also known as DHC2. Component of interflagellar transport dynein assembly complex, that regulates retrograde trafficking from the ciliary tip to the base (30429209, 9971742). Directly involved in the contacts and translocation of the dynein complex along via its large motor domain (19442771). Role in Golgi organisation and function (8666668).

Model organism evidence