DCDC2
doublecortin domain containing 2
- Ensembl:
- ENSG00000146038
- UniProt:
- Q9UHG0
- OMIM:
- 605755
- Synonyms:
- DCDC2A, DFNB66, KIAA1154, NPHP19, RU2
Cilia effects upon perturbation of DCDC2
- Loss-of-function effect:
- No effect
- Overexpression effect:
- longer cilia
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
- Human ciliopathy phenotype:
- hearing loss, autosomal recessive
Ciliopathy associations
- Neonatal Sclerosing Cholangitis
- Nephronophthisis
Subcellular localization
cilia, microtubules
Functional category
- Ciliary assembly/disassembly
- Actin & cytoskeleton regulation
Function
Functio l role in ciliary sig ling . DCDC2 overexpression increases ciliary length and enhances the Kif3a mediated translocation of Smo to the cilium, resulting in overactivation of the Shh pathway in neurons (21698230). Regulation of microtubule nucleation, stability and length in hair cells (25601850). Overexpression inhibits 尾- catenin-dependent Wnt sig ling (25557784). The increase in ciliary length could also be seen in NIH/3T3 cells overexpressing DCDC2.
Model organism evidence
C. elegans (1 reference)
DCDC2 is a ciliopathy protein that localizes to cilia; nevertheless, our understanding of the role of DCDC2 in cilia is still limited.
PMIDs: 37529113
Danio rerio (1 reference)
In addition, they both have been characterized as ciliopathy genes.
PMIDs: 37237337