Wd repeat containing planar cell polarity effector

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)
End	63,827,843 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	21,848,989 bp
RNA expression pattern
	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
	n/a
Orthologs
	51057
	216560
	ENSG00000143951
	ENSMUSG00000020319
	O95876
	Q8C456
	NM_001042692; NM_015910; NM_001354044; NM_001354045
	NM_145425; NM_001364768
	NP_001036157; NP_056994; NP_001340973; NP_001340974
	NP_663400; NP_001351697
	Wikidata
View/Edit Human	View/Edit Mouse

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WD repeat containing planar cell polarity effector is a protein that in humans is encoded by the WDPCP gene. ^[5]

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.

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000143951 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000020319 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: WD repeat containing planar cell polarity effector". Retrieved 2017-06-07.

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.

This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000143951 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000020319 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: WD repeat containing planar cell polarity effector". Retrieved 2017-06-07.

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Function

References

Further reading