INTU

inturned planar cell polarity protein

2 disorders 1 causative 1 untyped 4q28.1 gene with protein product

HGNC:29239 Monarch NCBI Gene 27152 ENSG00000164066 UniProt Q9ULD6 OMIM 610621

Previous symbols: PDZK6, PDZD6. Aliases: KIAA1284, CPLANE4.

Normal function · from ai-gene-review (Q9ULD6, commit 79fe13b38970) · AI-generated, not KB evidence

INTU (Inturned) is a scaffold protein that functions as a core component of the CPLANE (ciliogenesis and planar polarity effector) complex at basal bodies, where it recruits intraflagellar transport machinery, specifically IFT-A proteins. INTU also serves as an adaptor linking ciliary proteins (NPHP4) to actin-modifying proteins (DAAM1) to control the subapical actin network required for basal body docking and ciliary orientation. Essential for primary cilia assembly and Hedgehog signaling, INTU is mutated in ciliopathies including Oral-Facial-Digital syndrome XVII and Short-Rib Thoracic Dysplasia 20.

Scaffolds CPLANE complex assembly at basal bodies to recruit IFT-A machinery for cilium biogenesis

molecular function: protein-macromolecule adaptor activity · directly involved in: cilium assembly; intraciliary transport involved in cilium assembly · locations: ciliary basal body

Bridges NPHP4-DAAM1 interaction to organize subapical actin network required for basal body docking

molecular function: protein-macromolecule adaptor activity · directly involved in: establishment of planar polarity; motile cilium assembly · locations: ciliary basal body; apical plasma membrane

Binds phosphatidylinositol-3-phosphate (PI(3)P) preferentially via its N-terminal region to tether CPLANE on PI(3)P-rich vesicles near the nascent ciliary vesicle/basal body during late ciliogenesis

molecular function: phosphatidylinositol-3-phosphate binding · directly involved in: cilium assembly · locations: ciliary basal body

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Orofaciodigital Syndrome	causative	mechanism: Ciliary and Centriolar Gene Defect subtype: OFD 17 scoped to subtype: OFD 17
Orofaciodigital Syndrome 17	untyped Pathogenic biallelic variants

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
INTU-related skeletal ciliopathy MONDO:1060154	AR	Definitive 2025-06-02	no dismech entry

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.