WDPCP

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. [provided by RefSeq, Jun 2014]

Description

WD repeat containing planar cell polarity effector

Tissue specificity

Tissue enhanced (brain)

Subcell location

Cell Junctions

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Kim et al 2014)

Chromosome

2 (63119559 - 63827843)

Ensembl ID

ENSG00000143951  (ver. 103.38)

Orthologs

Mouse Wdpcp: ENSMUSG00000020319

UniProt

O95876

neXtProt

NX_O95876

Human splice variants
Mouse splice variants

Protein structure