SDCCAG8
SHH signaling and ciliogenesis regulator SDCCAG8
- Ensembl:
- ENSG00000054282, ENSG00000276111
- UniProt:
- Q86SQ7
- OMIM:
- 613524
- Synonyms:
- BBS16, CCCAP, NPHP10, NY-CO-8, SLSN7
Cilia effects upon perturbation of SDCCAG8
- Cilia number / % ciliated:
- Decreased cilia number
- Loss-of-function effect:
- Decreased cilia number
Ciliogenesis screen results (4 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (z=2.54) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
- Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=216, lfc=-3.18) PMID:30270045
Ciliopathy associations
- Bardet-Biedl Syndrome
- Nephronophthisis
- Senior-Løken Syndrome
Subcellular localization
centrosome, cilia, cytosol
Functional category
- Ciliary assembly/disassembly
- Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
- Actin & cytoskeleton regulation
- Protein processing & maturation
- Signaling (Hedgehog, GPCRs, ion channels)
Function
Mutations cause nephronophthisis type 10. Interacts with ODF1 and FAM161A (20835237, 24722439) and FA161A, plays a role in intraciliary trafficking and is essential for the survival and mainte nce of both rods and cones (24722439). Mutations have also been reported in patients with Bardet-Biedl syndrome (22190896). Required for the formation of outer segments (22825473).
Model organism evidence
Mus musculus (2 references)
Loss of C-Terminal Coiled-Coil Domains in SDCCAG8 Impairs Centriolar Satellites and Causes Defective Sperm Flagellum Biogenesis and Male Fertility.
Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic Sdccag8 mutations.