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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
WDPCP
WD repeat containing planar cell polarity effector
Chromosome 2 Β· 2p15
NCBI Gene: 51057Ensembl: ENSG00000143951.17HGNC: HGNC:28027UniProt: O95876
20PubMed Papers
22Diseases
0Drugs
50Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
roof of mouth developmenttongue morphogenesisembryonic digit morphogenesisphosphatidylinositol bindingBardet-Biedl syndrome 15Heart defect-tongue hamartoma-polysyndactyly syndromeBardet-Biedl syndromeheart defect - tongue hamartoma - polysyndactyly syndrome
✦AI Summary

WDPCP (WD repeat containing planar cell polarity effector) is a core component of the CPLANE (ciliogenesis and planar polarity effectors) complex, functioning as a critical effector in primary cilia assembly and planar cell polarity signaling 1. The protein exists as part of a crescent-shaped complex with INTU and FUZ, binding phosphatidylinositol lipids through multiple modules to regulate cilia formation and septin cytoskeleton organization 2. WDPCP is essential for intraflagellar transport by recruiting peripheral IFT-A proteins to basal bodies and likely functions as a guanine nucleotide exchange factor for Rab GTPases during ciliogenesis 3. Disruption of WDPCP causes multiple ciliopathies, including Bardet-Biedl syndrome and orofaciodigital syndrome variants featuring polysyndactyly, cardiac defects, and tongue hamartomas 45. In chr2 rhinosinusitis, reduced WDPCP expression correlates with impaired ciliogenesis and cilia dysfunction through MAPK/ERK pathway-dependent mitochondrial dysfunction 67. Additionally, WDPCP variants associate with alcohol-related liver disease pathogenesis through effects on lipid metabolism 8. These findings establish WDPCP as a multifunctional protein linking ciliary and non-ciliary processes relevant to developmental and inflammatory disease.

Sources cited
1
WDPCP is a core component of the CPLANE complex involved in ciliogenesis and planar cell polarity signaling
PMID: 35740972
2
CPLANE complex structure with WDPCP-INTU-FUZ binds phosphatidylinositol lipids via multiple modules
PMID: 35427153
3
INTU/FUZ and related complexes function as GEFs for Rab GTPase activation in ciliogenesis
PMID: 31562761
4
WDPCP mutations cause congenital heart defects, hamartomas of tongue, and polysyndactyly
PMID: 25427950
5
WDPCP variants are confirmed in ciliopathy cohorts including Bardet-Biedl syndrome cases
PMID: 32055034
6
WDPCP expression is reduced in chronic rhinosinusitis and inflammation decreases WDPCP levels
PMID: 28001338
7
WDPCP regulates ciliary beating through MAPK/ERK pathway-dependent mitochondrial function
PMID: 33598458
8
WDPCP associates with liver fibrosis and cirrhosis through effects on lipid metabolism
PMID: 37996473
Disease Associationsβ“˜22
Bardet-Biedl syndrome 15Open Targets
0.72Strong
Heart defect-tongue hamartoma-polysyndactyly syndromeOpen Targets
0.70Strong
Bardet-Biedl syndromeOpen Targets
0.68Moderate
heart defect - tongue hamartoma - polysyndactyly syndromeOpen Targets
0.66Moderate
Meckel syndromeOpen Targets
0.51Moderate
genetic disorderOpen Targets
0.47Moderate
prostate carcinomaOpen Targets
0.46Moderate
orofaciodigital syndromeOpen Targets
0.45Moderate
prostate cancerOpen Targets
0.38Weak
Bardet-Biedl syndrome 1Open Targets
0.38Weak
ciliopathyOpen Targets
0.37Weak
osteofibrous dysplasiaOpen Targets
0.37Weak
smoking initiationOpen Targets
0.34Weak
asthmaOpen Targets
0.34Weak
Abnormality of the skeletal systemOpen Targets
0.31Weak
secondary hyperparathyroidism of renal originOpen Targets
0.31Weak
vesicoureteral refluxOpen Targets
0.28Weak
hypertrophic cardiomyopathyOpen Targets
0.26Weak
response to antihypertensive drugOpen Targets
0.26Weak
Myocardial IschemiaOpen Targets
0.26Weak
Bardet-Biedl syndrome 15UniProt
Congenital heart defects, hamartomas of tongue, and polysyndactylyUniProt
Pathogenic Variants50
NM_015910.7(WDPCP):c.209-1G>ALikely pathogenic
Bardet-Biedl syndrome 15|Bardet-Biedl syndrome|Heart defect - tongue hamartoma - polysyndactyly syndrome;Bardet-Biedl syndrome 15|Heart defect - tongue hamartoma - polysyndactyly syndrome
β˜…β˜…β˜†β˜†2025
NM_015910.7(WDPCP):c.979C>T (p.Gln327Ter)Pathogenic
Bardet-Biedl syndrome|Inborn genetic diseases|WDPCP-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 327
NM_015910.7(WDPCP):c.826-1G>ALikely pathogenic
Bardet-Biedl syndrome
β˜…β˜…β˜†β˜†2025
NM_015910.7(WDPCP):c.552_553del (p.Cys185fs)Pathogenic
Heart defect - tongue hamartoma - polysyndactyly syndrome|Bardet-Biedl syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 185
NM_015910.7(WDPCP):c.633+2T>CLikely pathogenic
Bardet-Biedl syndrome|Heart defect - tongue hamartoma - polysyndactyly syndrome|Bardet-Biedl syndrome 15
β˜…β˜…β˜†β˜†2024
NM_015910.7(WDPCP):c.755G>A (p.Trp252Ter)Pathogenic
Bardet-Biedl syndrome|Bardet-Biedl syndrome 15;Heart defect - tongue hamartoma - polysyndactyly syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 252
NM_015910.7(WDPCP):c.547A>T (p.Lys183Ter)Pathogenic
Bardet-Biedl syndrome|Bardet-Biedl syndrome 15;Heart defect - tongue hamartoma - polysyndactyly syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 183
NM_015910.7(WDPCP):c.512_515del (p.Asp171fs)Pathogenic
Bardet-Biedl syndrome|Bardet-Biedl syndrome 15;Heart defect - tongue hamartoma - polysyndactyly syndrome|WDPCP-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 171
NM_015910.7(WDPCP):c.1347_1348del (p.Gln451fs)Pathogenic
Bardet-Biedl syndrome|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 451
NM_015910.7(WDPCP):c.1436-1G>CLikely pathogenic
Bardet-Biedl syndrome
β˜…β˜†β˜†β˜†2025
NM_015910.7(WDPCP):c.925_931del (p.Asp309fs)Pathogenic
Bardet-Biedl syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 309
NM_015910.7(WDPCP):c.1436-1G>ALikely pathogenic
Bardet-Biedl syndrome 15;Heart defect - tongue hamartoma - polysyndactyly syndrome
β˜…β˜†β˜†β˜†2024
NM_015910.7(WDPCP):c.634-1G>ALikely pathogenic
Bardet-Biedl syndrome
β˜…β˜†β˜†β˜†2024
NM_015910.7(WDPCP):c.541C>T (p.Gln181Ter)Likely pathogenic
not provided|Bardet-Biedl syndrome 15;Heart defect - tongue hamartoma - polysyndactyly syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 181
NM_015910.7(WDPCP):c.301C>T (p.Arg101Ter)Pathogenic
Bardet-Biedl syndrome|WDPCP-related disorder
β˜…β˜†β˜†β˜†2024β†’ Residue 101
NM_015910.7(WDPCP):c.917dup (p.Ser307fs)Likely pathogenic
Bardet-Biedl syndrome 15;Heart defect - tongue hamartoma - polysyndactyly syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 307
NM_015910.7(WDPCP):c.3G>A (p.Met1Ile)Likely pathogenic
Bardet-Biedl syndrome 15;Heart defect - tongue hamartoma - polysyndactyly syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 1
NM_015910.7(WDPCP):c.1600C>T (p.Gln534Ter)Likely pathogenic
Bardet-Biedl syndrome 15;Heart defect - tongue hamartoma - polysyndactyly syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 534
NM_015910.7(WDPCP):c.216del (p.Glu72fs)Pathogenic
Bardet-Biedl syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 72
NM_015910.7(WDPCP):c.881_884del (p.Lys294fs)Likely pathogenic
Heart defect - tongue hamartoma - polysyndactyly syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 294
View on ClinVar β†—
Related Genes
BBS5Protein interaction100%TTC8Protein interaction100%BBS7Protein interaction100%BBS10Protein interaction98%BBS12Protein interaction97%CPLANE2Protein interaction93%
Tissue Expression6 tissues
Brain
100%
Heart
99%
Ovary
90%
Bone Marrow
79%
Lung
57%
Liver
55%
Gene Interaction Network
Click a node to explore
WDPCPBBS5TTC8BBS7BBS10BBS12CPLANE2
PROTEIN STRUCTURE
Preparing viewer…
PDB7Q3D Β· 3.35 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.94LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.76 [0.62–0.94]
RankingsWhere WDPCP stands among ~20K protein-coding genes
  • #14,318of 20,598
    Most Researched20
  • #1,344of 5,498
    Most Pathogenic Variants50 Β· top quartile
  • #8,731of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedWDPCP
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 20301537
1.00
2
The morbid genome of ciliopathies: an update.
PMID: 32055034
Genet Med Β· 2020
0.90
3
CPLANE Complex and Ciliopathies.
PMID: 35740972
Biomolecules Β· 2022
0.80
4
Evidence for involvement of the alcohol consumption WDPCP gene in lipid metabolism, and liver cirrhosis.
PMID: 37996473
Sci Rep Β· 2023
0.70
5
Structure of the ciliogenesis-associated CPLANE complex.
PMID: 35427153
Sci Adv Β· 2022
0.60