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, 28330616
GO:0005886 Component Plasma membrane IBA 21873635
GO:0007275 Process Multicellular organism development IEA
GO:0016021 Component Integral component of membrane IEA
GO:0016328 Component Lateral plasma 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anencephaly Anencephaly, Iniencephaly, Exencephaly rs773607884 19319979, 17409324
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Hydrocephalus Hydrocephalus rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Hypertension Hypertensive disease rs13306026
Unknown
Disease term Disease name Evidence References Source
Ambiguous genitalia Ambiguous Genitalia ClinVar
Pulmonary hypoplasia Congenital hypoplasia of lung ClinVar
Sacral defect with anterior meningocele Sacral defect and anterior sacral meningocele 17409324 ClinVar
Neural Tube Defect neural tube defects, susceptibility to GenCC
Associations from Text Mining
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