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VANGL2 (VANGL planar cell polarity protein 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57216
Gene nameGene Name - the full gene name approved by the HGNC.
VANGL planar cell polarity protein 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
VANGL2
SynonymsGene synonyms aliases
LPP1, LTAP, STB1, STBM, STBM1
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q23.2
SummarySummary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a membrane protein involved in the regulation of planar cell polarity, especially in the stereociliary bundles of the cochlea. The encoded protein transmits directional signals to individual cells or groups of cells in
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs267607167 C>G,T Risk-factor Missense variant, coding sequence variant, genic downstream transcript variant
rs267607168 T>C Risk-factor Missense variant, coding sequence variant, genic downstream transcript variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017700 hsa-miR-335-5p Microarray 18185580
MIRT029478 hsa-miR-26b-5p Sequencing 20371350
MIRT049626 hsa-miR-92a-3p CLASH 23622248
MIRT710128 hsa-miR-6752-3p HITS-CLIP 19536157
MIRT710127 hsa-miR-6747-3p HITS-CLIP 19536157
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001736 Process Establishment of planar polarity IBA 21873635
GO:0001736 Process Establishment of planar polarity ISS
GO:0001843 Process Neural tube closure ISS
GO:0001947 Process Heart looping ISS
GO:0005515 Function Protein binding IPI 22610794, 28330616, 30126976
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q9ULK5
Protein name Vang-like protein 2 (Loop-tail protein 1 homolog) (Strabismus 1) (Van Gogh-like protein 2)
Protein function Involved in the control of early morphogenesis and patterning of both axial midline structures and the development of neural plate. Plays a role in the regulation of planar cell polarity, particularly in the orientation of stereociliary bundles
PDB 6XA6 , 6XA7 , 6XA8 , 7R2M , 7R2T , 9JK7 , 9JKA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06638 Strabismus
20 521
Strabismus protein
Family
Sequence
Sequence length 521
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 20558380, 2373757
Hydrocephalus Hydrocephalus rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Neural tube defect Neural Tube Defects rs121918220, rs121434297, rs137853061, rs137853062, rs3127334, rs267607167, rs267607168, rs387907204, rs139365610, rs137955120, rs786201015, rs786201016, rs768434408, rs777661576, rs747846362, rs200137991, rs780014899, rs574132670, rs786204013, rs147257424, rs763539350, rs776483190, rs757259023, rs781461462, rs762921297, rs1114167354, rs557643577, rs147277149, rs765586205, rs377443637, rs1563593163, rs1303000329, rs1565818580, rs986604359, rs1293600145, rs114727354, rs146357218, rs768980918, rs140277700, rs139645527, rs750323424, rs368321176, rs1579619636, rs893229476, rs754990692, rs763079713, rs1593037878, rs747100389, rs372056091, rs1593083585, rs778121031, rs748778907, rs776969786, rs1189298981, rs375908206, rs1734858651, rs778738842 2373757
Unknown
Disease name Disease term dbSNP ID References
Acrania Acrania 2373757
Addison`s disease Addison Disease
Cervical spina bifida aperta Cervical spina bifida aperta
Cervical spina bifida cystica Cervical spina bifida cystica

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