Wd repeat containing planar cell polarity effector

WD repeat containing planar cell polarity effector is a protein that in humans is encoded by the WDPCP gene.

WDPCP
Identifiers
Aliases	WDPCP, BBS15, C2orf86, FRITZ, FRTZ, CHDTHP, WD repeat containing planar cell polarity effector, CPLANE5
External IDs	OMIM: 613580; MGI: 2144467; HomoloGene: 9299; GeneCards: WDPCP; OMA:WDPCP - orthologs
Gene location (Human) Chr. Chromosome 2 (human) Band 2p15 Start 63,119,559 bp End 63,827,843 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11 A3.1|11 13.9 cM Start 21,522,235 bp End 21,848,989 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of paranasal sinus palpebral conjunctiva superficial temporal artery sperm cardiac muscle tissue of right atrium myocardium of left ventricle pancreatic epithelial cell buccal mucosa cell germinal epithelium skin of arm Top expressed in fourth ventricle choroid plexus of fourth ventricle spermatocyte spermatid choroidal fissure seminiferous tubule nasolacrimal duct lumbar spinal ganglion right kidney olfactory system More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 51057 216560 Ensembl ENSG00000143951 ENSMUSG00000020319 UniProt O95876 Q8C456 RefSeq (mRNA) NM_001042692 NM_015910 NM_001354044 NM_001354045 NM_145425 NM_001364768 RefSeq (protein) NP_001036157 NP_056994 NP_001340973 NP_001340974 NP_663400 NP_001351697 Location (UCSC) Chr 2: 63.12 – 63.83 Mb Chr 11: 21.52 – 21.85 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Function

This gene encodes a cytoplasmic WD40 repeat protein. A similar gene in frogs encodes a planar cell polarity protein that plays a critical role in collective cell movement and ciliogenesis by mediating septin localization. Mutations in this gene are associated with Bardet-Biedl syndrome 15 and may also play a role in Meckel-Gruber syndrome. Alternative splicing results in multiple transcript variants.

Further reading

• Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD (2009). "Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip". Am. J. Hum. Genet. 85 (5): 628–42. doi:10.1016/j.ajhg.2009.10.014. PMC 2775832. PMID 19913121.
• Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S (2010). "Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study". Diabetes Care. 33 (10): 2250–3. doi:10.2337/dc10-0452. PMC 2945168. PMID 20628086.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.