VANGL2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | VANGL2 |
| Official Name | VANGL planar cell polarity protein 2 [Source:HGNC Symbol;Acc:HGNC:15511] |
| Ensembl ID | ENSG00000162738 |
| Bio databases IDs | |
| Aliases | VANGL planar cell polarity protein 2, vang, van gogh-like 2, loop-tail-associated protein, strabismus |
| Synonyms | C530001F03RIK, loop-tail, Lootl, Lp, LPP1, LTAP, ska17, ska<m17Jus>, STB1, STBM, STBM1, strabismus, Vang1l2, VANGL planar cell polarity 2, VANGL planar cell polarity protein 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human VANGL2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Strabismus protein
- cytoplasmic domain
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neural tube defect
- hearing loss
- hypoplasia
- chronic lymphocytic leukemia
- spina bifida
- preeclampsia
- multiple sclerosis
- eyelids open at birth
- craniorachischisis
- disorder of pregnancy
role in cell
- migration
- expression in
- phosphorylation in
- polarization
- transcription in
- differentiation
- interaction in
- assembly
- morphology
- abnormal morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- basal ectoplasmic specialization of blood-testis barrier
- apical ectoplasmic specialization
- glutaminergic synapse
- cell pole
- cell periphery
- cellular membrane
- intercellular junctions
- cell-cell contacts
- apical cytoplasm
- apical membrane
- synaptic membrane
- basolateral membrane
- lateral plasma membrane
- recycling endosomes
- early endosomes
- transport vesicles
- actin stress fibers
- axons
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human VANGL2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neural tube closure
- apical protein localization
- establishment of planar polarity
- heart looping
- Wnt receptor signaling pathway, planar cell polarity pathway
- cell migration involved in kidney development
Cellular Component
Where in the cell the gene product is active
- lateral plasma membrane
- cell-cell junction
- plasma membrane
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding