VANGL1 (VANGL planar cell polarity protein 1)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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81839 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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VANGL1 |
SynonymsGene synonyms aliases
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KITENIN, LPP2, STB2, STBM2 |
ChromosomeChromosome number
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1 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1p13.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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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 |
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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
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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
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF06638 |
Strabismus |
25 → 524 |
Strabismus protein |
Family |
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Sequence |
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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.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Anencephaly |
Anencephaly, Iniencephaly, Exencephaly |
rs773607884 |
19319979, 17409324, 17409324, 19319979 |
Cryptorchidism |
Cryptorchidism |
rs121912555, rs104894697, rs104894698, rs398122886 |
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Hydrocephalus |
Hydrocephalus |
rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546 |
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Hypertension |
Hypertensive disease |
rs13306026, rs13333226 |
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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 |
17409324, 19319979 |
Renal insufficiency |
Renal Insufficiency |
rs1596536873 |
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Scoliosis |
Scoliosis, unspecified |
rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085 |
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Vesicoureteral reflux |
Vesico-Ureteral Reflux |
rs587777684, rs148731211 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Acrania |
Acrania |
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19319979, 17409324 |
Ambiguous genitalia |
Ambiguous Genitalia |
rs782562963 |
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Arnold-chiari malformation |
Arnold Chiari Malformation |
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Arrhinencephaly |
Arhinencephaly |
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Bowel incontinence |
Fecal Incontinence |
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Caudal regression sequence |
Caudal Regression Syndrome, Caudal dysplasia syndrome, Caudal regression sequence |
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17409324 |
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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Congenital clubfoot |
Congenital clubfoot |
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Pulmonary hypoplasia |
Congenital hypoplasia of lung |
rs1569032634 |
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Congenital meningocele |
Congenital meningocele |
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Craniorachischisis |
Craniorachischisis |
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17409324, 19319979 |
Dermoid cyst |
Dermoid Cyst |
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Diastematomyelia |
Diastematomyelia |
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19319979, 17409324 |
Double ureter |
Double ureter |
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Ectopic kidney |
Ectopic kidney |
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Imperforate anus |
Anus, Imperforate |
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Lipoma |
Lipoma |
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Lumbosacral agenesis |
Lumbosacral agenesis |
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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 |
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19319979, 17409324 |
Neurogenic urinary bladder |
Neurogenic Urinary Bladder |
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Oral cleft |
Oral cleft |
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Primary tethered cord syndrome |
Tethered Cord Syndrome |
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17409324, 19319979 |
Renal agenesis |
Congenital absence of kidneys syndrome |
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Sacral agenesis |
Sacral agenesis |
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17409324 |
Sacral defect with anterior meningocele |
Sacral defect and anterior sacral meningocele |
rs142594314, rs34768472, rs761123443, rs116216703, rs368722418, rs370321176, rs193075321, rs886045122, rs886045123, rs117337677, rs886045130, rs146730302, rs540290490, rs114921471, rs886045135, rs10923204, rs886045136, rs76160883, rs74117023, rs886045145, rs886045146, rs10801933, rs886045150, rs181588954, rs559438343, rs201840785, rs4839469, rs190792695, rs41310108, rs3811012, rs75277108, rs546423374, rs150705915, rs886045126, rs114033235, rs886045129, rs41299571, rs3811008, rs61732170, rs187286147, rs886045138, rs886045142, rs17034226, rs75064936, rs142497673, rs4548441, rs886045149, rs536289395, rs77318780, rs17034249, rs191609592, rs34059106, rs886045121, rs3811011, rs6700610, rs41312690, rs546932643, rs3204955, rs886045127, rs886045128, rs3811010, rs746455152, rs74117021, rs188964296, rs148944333, rs12121158, rs886045134, rs143712039, rs4839472, rs886045139, rs17034228, rs868558700, rs762453158, rs4348723, rs868196412, rs886045117, rs181583261, rs4595366, rs867892644, rs781010619, rs561312836, rs886045119, rs140485834, rs3811013, rs41299565, rs562969850, rs886045125, rs6428677, rs3811006, rs149888685, rs886045152, rs886045153, rs886045131, rs886045132, rs886045133, rs746958675, rs886045143, rs751663783, rs549041171, rs17034230, rs10494179, rs192325588, rs184708484, rs3811007, rs886045151, rs143196463, rs141673853, rs200389969, rs41275546, rs79828493, rs186509771, rs140451005, rs563855412, rs575493003, rs61734296, rs78535164, rs146723580, rs759094384, rs577862345, rs771534557, rs201698322, rs555914402, rs868487713, rs145309218, rs543050989, rs147220426, rs1198149468, rs775571796, rs145137292, rs200739468, rs375459125, rs577473121, rs1460622785, rs1653840369, rs768206672, rs142123586, rs1653892014, rs752428680, rs756347879, rs146512242, rs143344734, rs181543393, rs531884184, rs1653939278, rs1653943896, rs565246095, rs900018260, rs1653955779, rs1040113254, rs148126079, rs1457146079, rs551091101, rs1378359750, rs140931431, rs544552151, rs555833838, rs146435279, rs757056873, rs1368816704, rs115376031, rs528983735, rs755509900, rs1028169993, rs961390698, rs777221691, rs138485279, rs148437823, rs1027382711, rs117347999, rs1432374941, rs968357183, rs1654092548, rs562835629, rs1056160668 |
17409324 |
Sacral lipoma |
Sacral lipoma |
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Spina bifida |
Spina bifida aperta of cervical spine |
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19319979, 17409324 |
Spina bifida cystica |
Total spina bifida cystica, Total spina bifida aperta |
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Spina bifida occulta |
Spina Bifida Occulta |
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Spinal cord myelodysplasia |
Spinal Cord Myelodysplasia |
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19319979, 17409324 |
Thoracolumbosacral spina bifida aperta |
Thoracolumbosacral spina bifida aperta |
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Thoracolumbosacral spina bifida cystica |
Thoracolumbosacral spina bifida cystica |
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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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