Wd repeat containing planar cell polarity effector

Last updated
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
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

Contents

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.

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000143951 - Ensembl, May 2017
  2. 1 2 3 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.
  5. "Entrez Gene: WD repeat containing planar cell polarity effector" . Retrieved 2017-06-07.

Further reading

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