WDPCP
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| WD repeat containing planar cell polarity effector | MIM:613580 | Ensembl:ENSG00000143951 | HGNC:HGNC:28027 | PA164717186 | 2p15 |
GO terms in WDPCP
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | ISS | GO:0005886 | plasma membrane |
| CC | ISS | GO:0005930 | axoneme |
| CC | ISS | GO:0005938 | cell cortex |
| CC | ISS | GO:0016324 | apical plasma membrane |
| CC | IEA | GO:0097541 | axonemal basal plate |
| BP | IEA | GO:0001822 | kidney development |
| BP | IEA | GO:0002093 | auditory receptor cell morphogenesis |
| BP | IEA | GO:0007224 | smoothened signaling pathway |
| BP | IEA | GO:0010762 | regulation of fibroblast migration |
| BP | ISS | GO:0016476 | regulation of embryonic cell shape |
| BP | ISS | GO:0032185 | septin cytoskeleton organization |
| BP | ISS | GO:0032880 | regulation of protein localization |
| BP | IEA | GO:0042733 | embryonic digit morphogenesis |
| BP | IEA | GO:0043010 | camera-type eye development |
| BP | IBA | GO:0045184 | establishment of protein localization |
| BP | IEA | GO:0045184 | establishment of protein localization |
| BP | IEA | GO:0051893 | regulation of focal adhesion assembly |
| BP | IEA | GO:0055123 | digestive system development |
| BP | IEA | GO:0060021 | roof of mouth development |
| BP | ISS | GO:0060271 | cilium assembly |
| BP | IEA | GO:0060541 | respiratory system development |
| BP | IEA | GO:0072358 | cardiovascular system development |
| BP | IEA | GO:0090521 | glomerular visceral epithelial cell migration |
| BP | IEA | GO:1900027 | regulation of ruffle assembly |
| BP | IEA | GO:2000114 | regulation of establishment of cell polarity |
Gene expression in normal tissue: WDPCP
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in WDPCP
| Database | Pathway ID | Pathway Des. |
|---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in WDPCP
CLASSFICATION
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