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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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INTU
inturned planar cell polarity protein
Chromosome 4 Β· 4q28.1
NCBI Gene: 27152Ensembl: ENSG00000164066.14HGNC: HGNC:29239UniProt: Q9ULD6
24PubMed Papers
23Diseases
0Drugs
6Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingroof of mouth developmentembryonic digit morphogenesistongue morphogenesisshort rib dysplasiashort-rib thoracic dysplasia 7/20 with polydactyly, digenicorofaciodigital syndrome 17short-rib thoracic dysplasia 20 with polydactyly
✦AI Summary

INTU (inturned planar cell polarity protein) is a core component of the CPLANE (ciliogenesis and planar polarity effectors) complex essential for primary cilium formation and function 1. The protein regulates ciliogenesis by controlling apical actin cytoskeleton organization and basal body positioning, which is critical for proper ciliary microtubule orientation 1. INTU forms a heterodimer with FUZ within the CPLANE complex and functions as a guanine nucleotide exchange factor (GEF) for Rab GTPases involved in ciliogenesis 2. The protein is essential for intraflagellar transport A complex assembly and functions upstream of Gli2 activation in Hedgehog signaling pathways 3. Beyond development, INTU protects adult kidney proximal tubules from ischemia-reperfusion injury by targeting STAT1 for proteasomal degradation and maintaining primary cilia 4. Disease-wise, INTU mutations cause orofaciodigital syndrome XVII, characterized by facial dysmorphism, polydactyly, brain malformations, and cardiac anomalies 56. INTU is also aberrantly upregulated in basal cell carcinoma, where it enables oncogenic Hedgehog signaling through enhanced primary cilia formation 3. The protein's downregulation correlates with reduced survival in lung adenocarcinoma and endometrial carcinoma patients 7.

Sources cited
1
INTU is a core component of CPLANE complex involved in ciliogenesis and ciliopathy diseases
PMID: 35740972
2
INTU forms heterodimer with FUZ and functions as GEF for Rab GTPases
PMID: 31562761
3
INTU is essential for intraflagellar transport and functions upstream of Gli2 in Hedgehog signaling
PMID: 28459465
4
INTU protects kidney cells by targeting STAT1 for degradation and maintaining cilia
PMID: 29581513
5
INTU mutations cause orofaciodigital syndrome XVII
PMID: 29451301
6
Clinical spectrum of INTU-related OFDS XVII includes multiple organ system anomalies
PMID: 34623732
7
INTU downregulation correlates with poor survival in lung and endometrial cancers
PMID: 36084949
Disease Associationsβ“˜23
short rib dysplasiaOpen Targets
0.57Moderate
short-rib thoracic dysplasia 7/20 with polydactyly, digenicOpen Targets
0.50Moderate
orofaciodigital syndrome 17Open Targets
0.49Moderate
short-rib thoracic dysplasia 20 with polydactylyOpen Targets
0.47Moderate
INTU-related skeletal ciliopathyOpen Targets
0.37Weak
orofaciodigital syndromeOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.33Weak
short rib-polydactyly syndromeOpen Targets
0.32Weak
open-angle glaucomaOpen Targets
0.32Weak
ovarian neoplasmOpen Targets
0.31Weak
male reproductive organ cancerOpen Targets
0.30Weak
nephronophthisisOpen Targets
0.26Weak
Growth delayOpen Targets
0.26Weak
Orofaciodigital syndrome type 2Open Targets
0.26Weak
orofaciodigital syndrome type IIOpen Targets
0.26Weak
corneal ulcerOpen Targets
0.25Weak
ovarian dysfunctionOpen Targets
0.24Weak
alcohol drinkingOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
gastric ulcerOpen Targets
0.17Weak
Orofaciodigital syndrome 17UniProt
Short-rib thoracic dysplasia 20 with polydactylyUniProt
Short-rib thoracic dysplasia 7/20 with polydactyly, digenicUniProt
Pathogenic Variants6
NM_015693.4(INTU):c.576del (p.Lys193fs)Pathogenic
Orofaciodigital syndrome 17
β˜…β˜†β˜†β˜†2023β†’ Residue 193
NM_015693.4(INTU):c.1305dup (p.Asn436Ter)Likely pathogenic
Short-rib thoracic dysplasia 20 with polydactyly;Orofaciodigital syndrome 17
β˜…β˜†β˜†β˜†2021β†’ Residue 436
NM_015693.4(INTU):c.1063G>T (p.Glu355Ter)Likely pathogenic
Short-rib thoracic dysplasia 20 with polydactyly|Short rib-polydactyly syndrome
β˜…β˜†β˜†β˜†2018β†’ Residue 355
NM_015693.4(INTU):c.1499A>C (p.Glu500Ala)Likely pathogenic
Short rib-polydactyly syndrome|Short-rib thoracic dysplasia 20 with polydactyly
β˜…β˜†β˜†β˜†2018β†’ Residue 500
NM_015693.4(INTU):c.2358_2359dup (p.Asn787fs)Pathogenic
Short-rib thoracic dysplasia 20 with polydactyly;Orofaciodigital syndrome 17
β˜…β˜†β˜†β˜†β†’ Residue 787
NM_015693.4(INTU):c.396del (p.Asn132fs)Pathogenic
Orofaciodigital syndrome 17|Mohr syndrome
β˜†β˜†β˜†β˜†2018β†’ Residue 132
View on ClinVar β†—
Related Genes
CDC27Protein interaction100%CDC16Protein interaction100%CPLANE2Protein interaction93%NPHP4Protein interaction71%WDPCPProtein interaction71%FUZProtein interaction64%
Tissue Expression6 tissues
Ovary
100%
Heart
47%
Brain
24%
Lung
24%
Bone Marrow
23%
Liver
15%
Gene Interaction Network
Click a node to explore
INTUCDC27CDC16CPLANE2NPHP4WDPCPFUZ
PROTEIN STRUCTURE
Preparing viewer…
PDB7Q3D Β· 3.35 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.01LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.80 [0.64–1.01]
RankingsWhere INTU stands among ~20K protein-coding genes
  • #13,209of 20,598
    Most Researched24
  • #3,434of 5,498
    Most Pathogenic Variants6
  • #9,870of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedINTU
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
CPLANE Complex and Ciliopathies.
PMID: 35740972
Biomolecules Β· 2022
1.00
2
Hexa-Longin domain scaffolds for inter-Rab signalling.
PMID: 31562761
Bioinformatics Β· 2020
0.90
3
Multifaceted investigation underlies diverse mechanisms contributing to the downregulation of Hedgehog pathway-associated genes
PMID: 36084949
Aging (Albany NY) Β· 2022
0.80
4
The CPLANE protein Intu protects kidneys from ischemia-reperfusion injury by targeting STAT1 for degradation.
PMID: 29581513
Nat Commun Β· 2018
0.70
5
INTU is essential for oncogenic Hh signaling through regulating primary cilia formation in basal cell carcinoma.
PMID: 28459465
Oncogene Β· 2017
0.60