KATNAL2

Cilia effects upon perturbation of KATNAL2

Cilia number / % ciliated:

Decrease

Loss-of-function effect:

Decrease

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

spermatogenesis defect, germ cell defect, enlarged uriry bladder, aspermia, increased circulating alkaline phosphatase level, enlarged lymph nodes, enlarged spleen, enlarged stomach, small spleen, increased monocyte cell number

Mouse ciliopathy phenotype:

male infertility, abnormal pancreas morphology, abnormal uterus morphology

Human ciliopathy phenotype:

Congenital hydrocephalus + ASD/NDD (5 patients); impaired spermatogenesis

Ciliopathy associations

• Hydrocephalus
• Autism Spectrum Disorder

Subcellular localization

basal body, cilia

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Metabolism
• T cell biology

Function

Required for dy mic regulation of during axoneme formation and mainte nce, it may have the ability to remodel at different cellular locations. Role during the regulation of Wnt/pla r cell polarity (PCP)-dependent processes. Required for ciliogenesis, organogenesis and brain size control (30096282). Interacts with Nubp1 and Nubp2 AAA proteins, which act as negative regulators of ciliogenesis (26153462). Loss of Katnal2 leads to ependymal ciliary hyperfunction … increased length and beating frequency of motile cilia on ependymal cells (38718086) Katnal2 deletion causes impairments in microtubule-severing enzyme function resulting in primary cilia with increased length in embryonic RGCs. (39008680) KATNAL2 truncation (Katnal2Δ17) causes disrupted primary cilia and ependymal PCP → impaired CSF flow → hydrocephalus. 5 human patients with CH + ASD. LoF: disrupted/absent ependymal cilia (not longer — previous annotation incorrect).

Model organism evidence