ADAMTS9

ADAM metallopeptidase with thrombospondin type 1 motif 9

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

Subcellular localization

basal body, lysosomes

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).

Model organism evidence

Mus musculus (3 references)

Loss of ADAMTS9 disrupts ciliogenesis and collagen homeostasis resulting in Nephronophthisis-like polycystic kidneys.

Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis.

PMIDs: 41542618, 40436881, 39282264

C. elegans (2 references)

Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis.

Two functional forms of the Meckel-Gruber syndrome protein TMEM67 generated by proteolytic cleavage by ADAMTS9 mediate Wnt signaling and ciliogenesis.

PMIDs: 40436881, 39282264