Property Summary

NCBI Gene PubMed Count 22
Grant Count 71
R01 Count 36
Funding $7,324,168.43
PubMed Score 182.34
PubTator Score 47.81

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9ULK5 D3DVE9 Q5T212
Symbols LPP1
LTAP
STB1
STBM
STBM1

Gene

Gene RIF (13)

PMID Text
26754771 VANGL2 is overexpressed in basal breast cancers. It is involved in the proliferative signal cascade of the VANGL2-SQSTM1-JNK pathway.
25627785 Asymmetry of VANGL2 in migrating lymphocytes as a tool to monitor activity of the mammalian WNT/planar cell polarity pathway.
25200836 The aberrant VANGL2 promoter methylation and the decreased gene expression is associated with Tetralogy of Fallot.
25068569 These results strongly suggest that R181 and R274 play critical roles in Vangl protein function and that their mutations cause neural tube defects in humans.
23579212 Van-Gogh-like 2 is frequently methylated in MSI-CRCs with BRAF mutation and may act as a tumour suppressor gene, counteracting WNT/beta-catenin signaling.
23326640 Propose that Arfrp1 exposes a binding site on AP-1 that recognizes the Vangl2 sorting motif for capture into a transport vesicle destined for the proximal surface of a polarized epithelial cell.
21142127 Loss of membrane targeting of Vangl1 and Vangl2 proteins causes neural tube defects.
20738329 these findings strongly implicate VANGL2 in the genetic causation of spinal NTDs in a subset of patients and provide additional evidence for a pathogenic role of PCP signaling in these malformations.
20558380 Observational study of gene-disease association. (HuGE Navigator)
20558380 identified 3 novel missense mutations in fetuses with neural-tube defects
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AA Sequence

MDTESQYSGYSYKSGHSRSSRKHRDRRDRHRSKSRDGGRGDKSVTIQAPGEPLLDNESTRGDERDDNWGE      1 - 70
TTTVVTGTSEHSISHDDLTRIAKDMEDSVPLDCSRHLGVAAGATLALLSFLTPLAFLLLPPLLWREELEP     71 - 140
CGTACEGLFISVAFKLLILLLGSWALFFRRPKASLPRVFVLRALLMVLVFLLVVSYWLFYGVRILDARER    141 - 210
SYQGVVQFAVSLVDALLFVHYLAVVLLELRQLQPQFTLKVVRSTDGASRFYNVGHLSIQRVAVWILEKYY    211 - 280
HDFPVYNPALLNLPKSVLAKKVSGFKVYSLGEENSTNNSTGQSRAVIAAAARRRDNSHNEYYYEEAEHER    281 - 350
RVRKRRARLVVAVEEAFTHIKRLQEEEQKNPREVMDPREAAQAIFASMARAMQKYLRTTKQQPYHTMESI    351 - 420
LQHLEFCITHDMTPKAFLERYLAAGPTIQYHKERWLAKQWTLVSEEPVTNGLKDGIVFLLKRQDFSLVVS    421 - 490
TKKVPFFKLSEEFVDPKSHKFVMRLQSETSV                                           491 - 521
//

Text Mined References (22)

PMID Year Title
26754771 2016 Identification of p62/SQSTM1 as a component of non-canonical Wnt VANGL2-JNK signalling in breast cancer.
25627785 2015 Asymmetry of VANGL2 in migrating lymphocytes as a tool to monitor activity of the mammalian WNT/planar cell polarity pathway.
25200836 2014 Promoter methylation and expression of the VANGL2 gene in the myocardium of pediatric patients with tetralogy of fallot.
25068569 2014 Independent mutations at Arg181 and Arg274 of Vangl proteins that are associated with neural tube defects in humans decrease protein stability and impair membrane targeting.
23579212 2013 Van-Gogh-like 2 antagonises the canonical WNT pathway and is methylated in colorectal cancers.
23326640 2013 A novel GTP-binding protein-adaptor protein complex responsible for export of Vangl2 from the trans Golgi network.
22610794 2012 Identification of novel rare mutations of DACT1 in human neural tube defects.
21142127 2011 Loss of membrane targeting of Vangl proteins causes neural tube defects.
20738329 2011 Contribution of VANGL2 mutations to isolated neural tube defects.
20558380 2010 VANGL2 mutations in human cranial neural-tube defects.
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