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
• Short-Rib Thoracic Dysplasia
• Skeletal Ciliopathy

References: PMID:36599940, PMID:23456818, PMID:33369054, PMID:35927022, PMID:39361243, PMID:39622812, PMID:37489014, PMID:37091781, PMID:37906140, PMID:27925158, PMID:36442996, PMID:37007936, PMID:40250984, PMID:32494556, PMID:31415973, PMID:37100787, PMID:29458881, PMID:38062428, PMID:39881416, PMID:35277174, PMID:31943948, PMID:38550721, PMID:33875766, PMID:40339774, PMID:25410398, PMID:22791528

Subcellular localization

basal body, cytosol, transition zone

References: PMID:30429209, PMID:9971742, PMID:19442771, PMID:8666668

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• Metabolism
• 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).