DYNLT2B

Cilia effects upon perturbation of DYNLT2B

Phenotypes

Mouse phenotype:

decreased food intake

Mouse ciliopathy phenotype:

male infertility

Human ciliopathy phenotype:

short-rib thoracic dysplasia 17 with or without polydactyly

Ciliopathy associations

• Short-Rib Thoracic Dysplasia

Subcellular localization

basal body, transition zone

Functional category

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

Function

Dynein-2 light chain, required for cilia function. Associates with WDR34 (25205765) and WDR60, which is required for ciliary protein trafficking, as KO cells show defects in retrograde ciliary protein trafficking (29742051). Causative gene for short-rib polydactyly syndromes. Associates with Dync2h1 and other subunits of the Dync2 complex to deliver specific cargo necessary for ciliogenesis to the base of the cilium (25830415). Mutations cause Jeune asphyxiating thoracic dystrophy (26044572).

Model organism evidence