DYNLRB2

Cilia effects upon perturbation of DYNLRB2

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.07) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

increased circulating magnesium level, increased lean body mass, preweaning lethality, incomplete penetrance, increased fasting circulating glucose level, increased circulating phosphate level, increased mean platelet volume, decreased total body fat amount

Mouse ciliopathy phenotype:

increased heart weight, male infertility

Ciliopathy associations

• Primary Ciliary Dyskinesia

Subcellular localization

basal body, cilia, transition zone

Functional category

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

Function

Component of the WDR34 subcomplex (DYNLL1/DYNLL2 and DYNLRB1/DYNLRB2), crucial for dynein-2 function in retrograde ciliary protein trafficking (30649997, 32088381).

Model organism evidence