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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neural tube defects, susceptibility to Likely pathogenic rs121918219 RCV000001412
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sacral defect with anterior meningocele Pathogenic rs2101027831 RCV001645003
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Caudal regression sequence Uncertain significance; Likely benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CAUDAL REGRESSION SYNDROME Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1 Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acrania Acrania CTD_human_DG 17409324, 19319979
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 26527747
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 26527747
★☆☆☆☆
Found in Text Mining only
Ambiguous Genitalia Ambiguous Genitalia HPO_DG
★☆☆☆☆
Found in Text Mining only
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 27755493
★☆☆☆☆
Found in Text Mining only
Anencephaly Anencephaly HPO_DG
★☆☆☆☆
Found in Text Mining only
Anus, Imperforate Imperforate anus HPO_DG
★☆☆☆☆
Found in Text Mining only
Arhinencephaly Arrhinencephaly HPO_DG
★☆☆☆☆
Found in Text Mining only
Arnold Chiari Malformation Arnold-Chiari malformation HPO_DG
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 30146736, 31758655
★☆☆☆☆
Found in Text Mining only