WDPCP Gene
WD Repeat Containing Planar Cell Polarity Effector
Gene Information Card
| Symbol | WDPCP |
|---|---|
| Full Name | WD Repeat Containing Planar Cell Polarity Effector |
| Gene Type | Protein coding |
| Chromosomal Location | 2p15 |
| NCBI Gene ID | 51009 ncbi.nlm.nih.gov/gene/51009 |
| Ensembl ID | ENSG00000143951 |
| UniProt ID | Q9H6A0 |
| OMIM ID | 613580 |
| HGNC ID | 28027 |
| Aliases | BBS15, FRITZ, hFrtz, C2orf86 |
Description
WDPCP encodes a WD40 repeat-containing protein involved in planar cell polarity (PCP) signaling and ciliogenesis. The protein is essential for the establishment of tissue polarity and for the formation and function of primary cilia. Mutations in WDPCP are associated with Bardet-Biedl syndrome type 15 (BBS15), a ciliopathy characterized by retinal dystrophy, obesity, polydactyly, renal anomalies, and cognitive impairment.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bardet-Biedl syndrome 15 (BBS15) | Loss-of-function mutations in WDPCP disrupt ciliary assembly and PCP signaling, leading to ciliopathy phenotypes. | OMIM #615994; ClinVar; PMID: 20690115 |
| Joubert syndrome (related) | WDPCP variants may impair cerebellar and retinal development via ciliary dysfunction. | ClinVar; PMID: 25920555 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Brain | 6.5 | Low |
| Lung | 5.2 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cell line |
| HeLa | 7.8 | Cervical carcinoma cell line |
| HepG2 | 4.5 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1723C>T (p.Arg575*) | Nonsense | Rare | Premature stop; loss of function |
| c.1042_1043del (p.Leu348Glufs*2) | Frameshift | Rare | Truncated protein; loss of function |
| c.1A>G (p.Met1?) | Start loss | Rare | No translation initiation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported WDPCP mutations are loss-of-function (nonsense, frameshift, splice-site) leading to truncated or absent protein, impairing ciliogenesis and PCP signaling.
Gain of Function (GOF)
No gain-of-function mutations have been described for WDPCP.
Dominant Negative (DN)
No dominant-negative mutations have been reported; inheritance is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • establishment of planar polarity (GO:0001736) | • cilium assembly (GO:0060271) |
| • cell projection organization (GO:0030030) | • protein binding (GO:0005515) |
| • cell projection (GO:0042995) |
Pathways
• Planar cell polarity (PCP) pathway
• Ciliogenesis (primary cilium assembly)
Protein Summary
The WDPCP protein (UniProt Q9H6A0) contains multiple WD40 repeats that mediate protein-protein interactions. It localizes to the basal body and ciliary transition zone, where it interacts with other PCP and ciliary proteins (e.g., VANGL2, CPLANE1) to regulate ciliary vesicle docking and axoneme extension. Loss of WDPCP function results in defective ciliary signaling and planar polarity defects.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WDPCP Knockout HEK293 Cell Line | EDJ-KQ10892 | Human | 51057 | Details Get a Quote |
| WDPCP Knockout A-549 Cell Line | EDJ-KQ38588 | Human | 51057 | Details Get a Quote |
| WDPCP Knockout HCT 116 Cell Line | EDJ-KQ38589 | Human | 51057 | Details Get a Quote |
| WDPCP Knockout HeLa Cell Line | EDJ-KQ38590 | Human | 51057 | Details Get a Quote |
