INTU

Chr 4AR

inturned planar cell polarity protein

Also known as: CPLANE4, INT, OFD17, PDZD6, PDZK6, SRTD20

NCBI Gene: 27152ENSG00000164066UniProt: Q9ULD6OMIM: 610621

Predicted to enable phosphatidylinositol binding activity. Involved in embryonic digit morphogenesis; roof of mouth development; and tongue morphogenesis. Located in several cellular components, including ciliary basal body; cytosol; and motile cilium. Implicated in asphyxiating thoracic dystrophy and orofaciodigital syndrome XVII. [provided by Alliance of Genome Resources, Apr 2025]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Orofaciodigital syndrome XVIIMIM #617926
AR
?Short-rib thoracic dysplasia 20 with polydactylyMIM #617925
AR

Clinical highlights

Gene-disease validity (ClinGen)
INTU-related skeletal ciliopathy · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.74
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.74LOEUF
pLI 0.000
Z-score 2.91
OE 0.52 (0.37–0.74)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.38Z-score
OE missense 0.95 (0.88–1.03)
463 obs / 486.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.52 (0.37–0.74)
0≤0.351.4
Missense OE?0.95 (0.88–1.03)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 22 / 42.5Missense obs/exp: 463 / 486.8Syn Z: 1.17

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

INTU · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients