VANGL2 (VANGL planar cell polarity protein 2)
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Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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57216 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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VANGL2 |
SynonymsGene synonyms aliases
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LPP1, LTAP, STB1, STBM, STBM1 |
ChromosomeChromosome number
|
1 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1q23.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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 |
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Sequence |
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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.
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Associated diseases
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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 |
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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 |
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Cervical spina bifida aperta |
Cervical spina bifida aperta |
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Cervical spina bifida cystica |
Cervical spina bifida cystica |
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Cervicothoracic spina bifida |
Cervicothoracic spina bifida cystica, Cervicothoracic spina bifida aperta |
|
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Craniorachischisis |
Craniorachischisis |
|
2373757 |
Diastematomyelia |
Diastematomyelia |
|
2373757 |
Isolated anencephaly |
Isolated anencephaly |
|
|
Isolated exencephaly |
Isolated exencephaly |
|
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Lipoma |
Lipoma |
|
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Lumbosacral spina bifida aperta |
Lumbosacral spina bifida aperta |
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Lumbosacral spina bifida cystica |
Lumbosacral spina bifida cystica |
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Meningomyelocele |
Meningomyelocele |
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Multiple lipomata |
Multiple lipomata |
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Neurenteric cyst |
Neurenteric Cyst |
|
2373757 |
Primary tethered cord syndrome |
Tethered Cord Syndrome |
|
2373757 |
Rachischisis |
Rachischisis |
|
21404367 |
Sacral agenesis |
Sacral agenesis |
|
|
Spina bifida |
Spina Bifida, Spina bifida aperta of cervical spine |
|
21404367, 20738329 |
Spina bifida cystica |
Total spina bifida cystica, Total spina bifida aperta |
|
|
Spina bifida occulta |
Spina Bifida Occulta |
|
|
Spinal cord myelodysplasia |
Spinal Cord Myelodysplasia |
|
2373757 |
Status dysraphicus |
Status Dysraphicus |
|
21404367 |
Thoracolumbosacral spina bifida aperta |
Thoracolumbosacral spina bifida aperta |
|
|
Thoracolumbosacral spina bifida cystica |
Thoracolumbosacral spina bifida cystica |
|
|
Upper thoracic spina bifida aperta |
Upper thoracic spina bifida aperta |
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Upper thoracic spina bifida cystica |
Upper thoracic spina bifida cystica |
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