CCDC88C

coiled-coil domain containing 88C

Ensembl:
ENSG00000015133
UniProt:
Q9P219
OMIM:
611204
Synonyms:
DAPLE, HKRP2, KIAA1509, SCA40

Cilia effects upon perturbation of CCDC88C

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (z=3.32) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse ciliopathy phenotype:
abnormal auditory brainstem response, abnormal testis morphology, small testis
Human ciliopathy phenotype:
Spinocerebellar ataxia type 40; congenital hydrocephalus

Subcellular localization

cilia associated gene

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Muscle contraction & physiology

Function

Mutations in the CCDC88C gene cause Spinocerebellar Ataxia (PMID: 25062847).

Model organism evidence

C. elegans (2 references)

GRDN-1 is localized to the basal body and regulates localization of HMR-1/Cadherin to the distal AQR dendrite.

A Conserved Role for Girdin in Basal Body Positioning and Ciliogenesis.

PMIDs: 33460640, 27623382