Gene Gene information from NCBI Gene database.
Entrez ID 81839
Gene name VANGL planar cell polarity protein 1
Gene symbol VANGL1
Synonyms (NCBI Gene)
KITENINLPP2STB2STBM2
Chromosome 1
Chromosome location 1p13.1
Summary 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.
4
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.
1173
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610132 15512 ENSG00000173218
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
414
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neural tube defects, susceptibility to Likely pathogenic rs121918219 RCV000001412
Sacral defect with anterior meningocele Pathogenic rs2101027831 RCV001645003
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Caudal regression sequence Uncertain significance; Likely benign; Conflicting classifications of pathogenicity rs121918218, rs3841008, rs138659832, rs886045118, rs752251154, rs886045144, rs886045147, rs886045148, rs886045116, rs746915495, rs886045124, rs75064936, rs762453158, rs778860160, rs144395099
View all (1 more)
RCV000001411
RCV002469106
RCV002469109
RCV002469102
RCV002469107
RCV002469111
RCV002469114
RCV002469115
RCV002469101
RCV002469104
RCV002469105
RCV002469112
RCV002469113
RCV002469103
RCV002469108
RCV002469110
Germ cell tumor of testis Benign rs12145661 RCV005923480
Glioma susceptibility 1 Uncertain significance rs770589524 RCV005930883
Keratoconus Uncertain significance rs1202230056 RCV000678665
Associations from Text MiningDisease 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