DIAPH3

Cilia effects upon perturbation of DIAPH3

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Abnormal / altered cilia

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-7.24) 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:

embryonic growth retardation, abnormal embryo size, increased mean corpuscular hemoglobin concentration, pallor, mydriasis, decreased circulating free fatty acids level, decreased circulating triglyceride level, abnormal craniofacial morphology, abnormal pericardium morphology, decreased mean corpuscular volume, preweaning lethality, complete penetrance

Human ciliopathy phenotype:

autosomal dominant nonsyndromic hearing loss

Subcellular localization

basal body, microtubules, nucleus

References: PMID:33872598

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• Protein processing & maturation
• Signaling (Hedgehog, GPCRs, ion channels)
• Cilia length regulation

Function

DIAPH3 may coordinate vesicle trafficking to the base of cilia to regulate ciliogenesis and cilia maintenance(33872598). DIAPH2 and DIAPH3 have role in ciliogenesis and cilia maintenance and depletion of DIAPH2 and DIAPH3 caused impaired ciliogenesis, decreases in cilia length, and decreases in IFT20 or Rab11 recruitment to the ciliary base(33872598).