VANGL2
Vang-like protein 2
Also known as: KIAA1215, LPP1, LTAP, MGC119403, MGC119404, STB1, STBM, STBM1, VANG2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9ULK5
- Gene
- VANGL2
- Ensembl
- ENSG00000162738
- Chromosome
- 1
- Canonical length
- 521 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted membrane proteins
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
521 residues, UniProt reviewed canonical sequence.
>Q9ULK5|VANGL2
1 MDTESQYSGY SYKSGHSRSS RKHRDRRDRH RSKSRDGGRG DKSVTIQAPG EPLLDNESTR
61 GDERDDNWGE TTTVVTGTSE HSISHDDLTR IAKDMEDSVP LDCSRHLGVA AGATLALLSF
121 LTPLAFLLLP PLLWREELEP CGTACEGLFI SVAFKLLILL LGSWALFFRR PKASLPRVFV
181 LRALLMVLVF LLVVSYWLFY GVRILDARER SYQGVVQFAV SLVDALLFVH YLAVVLLELR
241 QLQPQFTLKV VRSTDGASRF YNVGHLSIQR VAVWILEKYY HDFPVYNPAL LNLPKSVLAK
301 KVSGFKVYSL GEENSTNNST GQSRAVIAAA ARRRDNSHNE YYYEEAEHER RVRKRRARLV
361 VAVEEAFTHI KRLQEEEQKN PREVMDPREA AQAIFASMAR AMQKYLRTTK QQPYHTMESI
421 LQHLEFCITH DMTPKAFLER YLAAGPTIQY HKERWLAKQW TLVSEEPVTN GLKDGIVFLL
481 KRQDFSLVVS TKKVPFFKLS EEFVDPKSHK FVMRLQSETS VLocalizationUniProt · AlphaFold · HPA
Whether an antibody against VANGL2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 4
- Mean surface accessibility (rSASA)
- 0.43
- Highest tissue expression
- 36 nTPM
Expression across tissuesHPA
Tissue
- skin: 36 nTPM
- cerebellum: 13 nTPM
- vagina: 13 nTPM
- salivary gland: 13 nTPM
- esophagus: 12 nTPM
- cervix: 11 nTPM
Single-cell type
- tuft cells: 35 nCPM
- pituitary stem cells: 34 nCPM
- prostatic hillock cells: 26 nCPM
- cone photoreceptor cells: 25 nCPM
- astrocytes: 24 nCPM
- ependymal cells: 22 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- midbrain: 29 nTPM
- hypothalamus: 26 nTPM
- medulla oblongata: 25 nTPM
- spinal cord: 25 nTPM
- pons: 21 nTPM
- white matter: 20 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about VANGL2.
Disease | AllUniProt
Conditions VANGL2 is implicated in, by any mechanism.
- Neural tube defects (NTD) MIM:182940
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.39
- gnomAD pLI
- 0.84
- gnomAD missense Z
- 1.43
- DepMap mean gene effect
- -0.16
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- anterior/posterior pattern specification
- apical protein localization
- cochlea morphogenesis
- convergent extension involved in axis elongation
- convergent extension involved in neural plate elongation
- digestive tract morphogenesis
- dopaminergic neuron axon guidance
- establishment of body hair planar orientation
- establishment of planar polarity
- establishment of planar polarity involved in neural tube closure
- establishment or maintenance of epithelial cell apical/basal polarity
- glomerulus development
- hair follicle development
- heart looping
- heparan sulfate proteoglycan biosynthetic process
- inner ear receptor cell stereocilium organization
- kidney morphogenesis
- lateral sprouting involved in lung morphogenesis
- membranous septum morphogenesis
- muscular septum morphogenesis
- neural tube closure
- non-motile cilium assembly
- orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis
- planar dichotomous subdivision of terminal units involved in lung branching morphogenesis
- post-anal tail morphogenesis
- regulation of actin cytoskeleton organization
- regulation of establishment of planar polarity
- regulation of synapse pruning
- regulation of Wnt signaling pathway
- Rho protein signal transduction
- serotonergic neuron axon guidance
- somatic stem cell division
- somatic stem cell population maintenance
- Wnt signaling pathway, planar cell polarity pathway
- wound healing
- cell migration involved in kidney development
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of VANGL2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads VANGL2 as an antibody target. Whether an autoantibody or antibody against VANGL2 could matter depends on whether native VANGL2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
VANGL2 is annotated at the cell surface, where native VANGL2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label VANGL2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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