VANGL1 (VANGL planar cell polarity protein 1)

2009-03-01  

Identity

HGNC
LOCATION
1p13.1
LOCUSID
ALIAS
KITENIN,LPP2,STB2,STBM2
FUSION GENES

Other Information

Locus ID:

NCBI: 81839
MIM: 610132
HGNC: 15512
Ensembl: ENSG00000173218

Variants:

dbSNP: 81839
ClinVar: 81839
TCGA: ENSG00000173218
COSMIC: VANGL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173218ENST00000310260Q8TAA9
ENSG00000173218ENST00000310260A0A024R0E3
ENSG00000173218ENST00000355485Q8TAA9
ENSG00000173218ENST00000355485A0A024R0E3
ENSG00000173218ENST00000369509Q8TAA9
ENSG00000173218ENST00000369509A0A024R0E3
ENSG00000173218ENST00000369510Q8TAA9

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Wnt signaling pathwayKEGGko04310
Wnt signaling pathwayKEGGhsa04310

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
174093242007Mutations in VANGL1 associated with neural-tube defects.107
193199792009Novel mutations in VANGL1 in neural tube defects.47
193199792009Novel mutations in VANGL1 in neural tube defects.47
221798382012A protein complex of SCRIB, NOS1AP and VANGL1 regulates cell polarity and migration, and is associated with breast cancer progression.42
256052512015KITENIN promotes glioma invasiveness and progression, associated with the induction of EMT and stemness markers.22
164102432006Vangl1 protein acts as a downstream effector of intestinal trefoil factor (ITF)/TFF3 signaling and regulates wound healing of intestinal epithelium.18
249099172014KITENIN-targeting microRNA-124 suppresses colorectal cancer cell motility and tumorigenesis.18
200439942010VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish.16
301467362019Circular RNA circ-VANGL1 as a competing endogenous RNA contributes to bladder cancer progression by regulating miR-605-3p/VANGL1 pathway.16
211421272011Loss of membrane targeting of Vangl proteins causes neural tube defects.14

Citation

Dessen P

VANGL1 (VANGL planar cell polarity protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-03-01

Online version: http://atlasgeneticsoncology.org/gene/50805/vangl1-(vangl-planar-cell-polarity-protein-1)