ADAMTS9

ADAM metallopeptidase with thrombospondin type 1 motif 9

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000163638
UniProt:
Q9P2N4
OMIM:
605421
Synonyms:
KIAA1312

Cilia effects upon perturbation of ADAMTS9

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (4 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.38) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-4.09) PMID:41160700

Phenotypes

Mouse phenotype:
preweaning lethality, incomplete penetrance, abnormal lymph node morphology, abnormal eye morphology, embryonic growth retardation, abnormal embryo size, preweaning lethality, complete penetrance, embryonic lethality prior to organogenesis

Ciliopathy associations

  • Joubert Syndrome
  • Nephronophthisis

References: PMID:34750010, PMID:30609407

Subcellular localization

basal body, lysosomes

References: PMID:30609407, PMID:30814516

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Cell migration & adhesion
  • Cardiac & muscle development

Function

Causes NPHP-related ciliopathy (30609407). Has a non-canonical role in ciliary vesicle growth during ciliogenesis (30814516).