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VANGL1 (VANGL planar cell polarity protein 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
81839
Gene nameGene Name - the full gene name approved by the HGNC.
VANGL planar cell polarity protein 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
VANGL1
SynonymsGene synonyms aliases
KITENIN, LPP2, STB2, STBM2
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p13.1
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
Sequence length 524
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
  Wnt signaling pathway  
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Anencephaly Anencephaly, Iniencephaly, Exencephaly rs773607884 19319979, 17409324, 17409324, 19319979
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, rs13333226
Unknown
Disease name Disease term dbSNP ID References
Acrania Acrania 19319979, 17409324
Ambiguous genitalia Ambiguous Genitalia rs782562963
Arnold-chiari malformation Arnold Chiari Malformation
Arrhinencephaly Arhinencephaly

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