VANGL2
Summary: The protein encoded by this gene is a membrane protein involved in the regulation of planar cell polarity, especially in the stereociliary bundles of the cochlea. The encoded protein transmits directional signals to individual cells or groups of cells in epithelial sheets. This protein is also involved in the development of the neural plate. [provided by RefSeq, Sep 2011].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| VANGL planar cell polarity protein 2 | MIM:600533 | Ensembl:ENSG00000162738 | HGNC:HGNC:15511 | PA37970 | 1q23.2 |
GO terms in VANGL2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | ISS | GO:0001736 | establishment of planar polarity |
| BP | ISS | GO:0001843 | neural tube closure |
| BP | IEA | GO:0001942 | hair follicle development |
| BP | ISS | GO:0001947 | heart looping |
| BP | IEA | GO:0003149 | membranous septum morphogenesis |
| BP | IEA | GO:0003150 | muscular septum morphogenesis |
| BP | IEA | GO:0003402 | planar cell polarity pathway involved in axis elongation |
| BP | IEA | GO:0007266 | Rho protein signal transduction |
| BP | IEA | GO:0009952 | anterior/posterior pattern specification |
| BP | IEA | GO:0015012 | heparan sulfate proteoglycan biosynthetic process |
| BP | IEA | GO:0022007 | convergent extension involved in neural plate elongation |
| BP | IEA | GO:0030111 | regulation of Wnt signaling pathway |
| BP | IEA | GO:0032835 | glomerulus development |
| BP | IEA | GO:0032956 | regulation of actin cytoskeleton organization |
| BP | IEA | GO:0035019 | somatic stem cell population maintenance |
| BP | ISS | GO:0035787 | cell migration involved in kidney development |
| BP | IEA | GO:0036342 | post-anal tail morphogenesis |
| BP | IEA | GO:0036514 | dopaminergic neuron axon guidance |
| BP | IEA | GO:0036515 | serotonergic neuron axon guidance |
| BP | IEA | GO:0042060 | wound healing |
| BP | IEA | GO:0043507 | positive regulation of JUN kinase activity |
| BP | ISS | GO:0045176 | apical protein localization |
| BP | IEA | GO:0045197 | establishment or maintenance of epithelial cell apical/basal polarity |
| BP | IEA | GO:0048103 | somatic stem cell division |
| BP | IEA | GO:0048105 | establishment of body hair planar orientation |
| BP | IEA | GO:0048546 | digestive tract morphogenesis |
| BP | IEA | GO:0060028 | convergent extension involved in axis elongation |
| BP | IEA | GO:0060122 | inner ear receptor cell stereocilium organization |
| BP | IEA | GO:0060488 | orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis |
| BP | IEA | GO:0060489 | planar dichotomous subdivision of terminal units involved in lung branching morphogenesis |
| BP | IEA | GO:0060490 | lateral sprouting involved in lung morphogenesis |
| BP | IEA | GO:0060993 | kidney morphogenesis |
| BP | IEA | GO:0061346 | planar cell polarity pathway involved in heart morphogenesis |
| BP | IEA | GO:0090103 | cochlea morphogenesis |
| BP | IEA | GO:0090177 | establishment of planar polarity involved in neural tube closure |
| BP | IEA | GO:0090179 | planar cell polarity pathway involved in neural tube closure |
| BP | IEA | GO:1904938 | planar cell polarity pathway involved in axon guidance |
| BP | ISS | GO:1905515 | non-motile cilium assembly |
| CC | IEA | GO:0001725 | stress fiber |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | ISS | GO:0005911 | cell-cell junction |
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | IEA | GO:0016323 | basolateral plasma membrane |
| CC | ISS | GO:0016324 | apical plasma membrane |
| CC | ISS | GO:0016328 | lateral plasma membrane |
| CC | IEA | GO:0030134 | COPII-coated ER to Golgi transport vesicle |
| CC | IEA | GO:0060187 | cell pole |
| MF | IPI | GO:0005515 | protein binding |
Gene expression in normal tissue: VANGL2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in VANGL2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04310 | Wnt signaling pathway - Homo sapiens (human) |
| wikipathways | WP428 | Wnt Signaling Pathway |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-195721 | Signaling by WNT |
| reactome | R-HSA-3858494 | Beta-catenin independent WNT signaling |
| reactome | R-HSA-4086400 | PCP/CE pathway |
| reactome | R-HSA-4608870 | Asymmetric localization of PCP proteins |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in VANGL2
CLASSFICATION
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