SDCCAG8

SHH signaling and ciliogenesis regulator SDCCAG8

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000054282
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

References: PMID:22190896, PMID:22626039, PMID:31534065, PMID:20835237, PMID:24722439, PMID:35503560, PMID:22940612, PMID:32432520, PMID:40725491, PMID:20835237

Subcellular localization

centrosome, cilia, cytosol, basal body

References: PMID:41005307, PMID:20835237, PMID:24722439, PMID:22825473, PMID:22190896

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 maintenance 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).