Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
81839
Gene name Gene Name - the full gene name approved by the HGNC.
VANGL planar cell polarity protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
VANGL1
Synonyms (NCBI Gene) Gene synonyms aliases
KITENIN, LPP2, STB2, STBM2
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p13.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate spl
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121918218 G>A Likely-pathogenic, pathogenic Missense variant, coding sequence variant
rs121918219 G>A Uncertain-significance, risk-factor Missense variant, coding sequence variant
rs121918220 T>C Risk-factor Missense variant, coding sequence variant
rs761123443 G>A Risk-factor Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020963 hsa-miR-155-5p Proteomics 20584899
MIRT023046 hsa-miR-124-3p Microarray 18668037
MIRT026871 hsa-miR-192-5p Microarray 19074876
MIRT027805 hsa-miR-98-5p Microarray 19088304
MIRT030158 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15205336, 25910212, 27880917, 28330616
GO:0005576 Component Extracellular region IEA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0016020 Component Membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610132 15512 ENSG00000173218
Protein
UniProt ID Q8TAA9
Protein name Vang-like protein 1 (Loop-tail protein 2 homolog) (LPP2) (Strabismus 2) (Van Gogh-like protein 1)
PDB 8ZXD , 9JK6 , 9JK8 , 9JK9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06638 Strabismus 25 524 Strabismus protein Family
Tissue specificity TISSUE SPECIFICITY: According to PubMed:11956595, ubiquitously expressed. According to PubMed:12011995, expressed specifically in testis and ovary. {ECO:0000269|PubMed:11956595, ECO:0000269|PubMed:12011995}.
Sequence
Sequence length 524
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Wnt signaling pathway  
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Keratoconus keratoconus N/A N/A ClinVar
neural tube defect Neural tube defect N/A N/A ClinVar
Neural Tube Defect Neural tube defects, susceptibility to, neural tube defects, susceptibility to N/A N/A ClinVar, GenCC
sacral defect with anterior meningocele Sacral defect with anterior meningocele N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 33228740
Adenoma Associate 27245242
Breast Neoplasms Associate 31755218
Carcinoma Hepatocellular Associate 25874746
Carcinoma Non Small Cell Lung Associate 31076544
Carcinoma Squamous Cell Associate 21488189
Colonic Neoplasms Associate 27245242
Colorectal Neoplasms Associate 21488189
Death Sudden Cardiac Associate 21685173
Extranodal Extension Associate 35028618