Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	57216
Gene name	VANGL planar cell polarity protein 2
Gene symbol	VANGL2
Synonyms (NCBI Gene)	LPP1LTAPSTB1STBMSTBM1
Chromosome	1
Chromosome location	1q23.2
Summary	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

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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

262

Show/Hide all (262)

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
MIRT710126	hsa-miR-5008-5p	HITS-CLIP	19536157
MIRT710125	hsa-miR-3173-5p	HITS-CLIP	19536157
MIRT710124	hsa-miR-6799-3p	HITS-CLIP	19536157
MIRT710123	hsa-miR-874-5p	HITS-CLIP	19536157
MIRT710122	hsa-miR-1291	HITS-CLIP	19536157
MIRT710121	hsa-miR-6775-3p	HITS-CLIP	19536157
MIRT710120	hsa-miR-4313	HITS-CLIP	19536157
MIRT646070	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT646069	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT646068	hsa-miR-4733-5p	HITS-CLIP	23824327
MIRT646067	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT646066	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT663120	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT646065	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT646064	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT646063	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT646062	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT646061	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT646060	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT646070	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT646069	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT646068	hsa-miR-4733-5p	HITS-CLIP	23824327
MIRT646067	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT646066	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT646065	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT646064	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT646063	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT646062	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT646061	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT646060	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT060011	hsa-miR-1276	PAR-CLIP	20371350
MIRT544311	hsa-miR-4760-3p	PAR-CLIP	20371350
MIRT060018	hsa-miR-451b	PAR-CLIP	20371350
MIRT544310	hsa-miR-5697	PAR-CLIP	20371350
MIRT060009	hsa-miR-1297	PAR-CLIP	20371350
MIRT060004	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT029478	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT060013	hsa-miR-4465	PAR-CLIP	20371350
MIRT544308	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT060011	hsa-miR-1276	PAR-CLIP	20371350
MIRT544311	hsa-miR-4760-3p	PAR-CLIP	20371350
MIRT060018	hsa-miR-451b	PAR-CLIP	20371350
MIRT544310	hsa-miR-5697	PAR-CLIP	20371350
MIRT060009	hsa-miR-1297	PAR-CLIP	20371350
MIRT060004	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT029478	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT060013	hsa-miR-4465	PAR-CLIP	20371350
MIRT544308	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT060011	hsa-miR-1276	PAR-CLIP	21572407
MIRT544311	hsa-miR-4760-3p	PAR-CLIP	21572407
MIRT060018	hsa-miR-451b	PAR-CLIP	21572407
MIRT544310	hsa-miR-5697	PAR-CLIP	21572407
MIRT060005	hsa-miR-342-5p	PAR-CLIP	21572407
MIRT060016	hsa-miR-4664-5p	PAR-CLIP	21572407
MIRT060009	hsa-miR-1297	PAR-CLIP	21572407
MIRT060004	hsa-miR-26a-5p	PAR-CLIP	21572407
MIRT029478	hsa-miR-26b-5p	PAR-CLIP	21572407
MIRT060013	hsa-miR-4465	PAR-CLIP	21572407
MIRT544308	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT060011	hsa-miR-1276	PAR-CLIP	21572407
MIRT544311	hsa-miR-4760-3p	PAR-CLIP	21572407
MIRT060018	hsa-miR-451b	PAR-CLIP	21572407
MIRT544310	hsa-miR-5697	PAR-CLIP	21572407
MIRT060005	hsa-miR-342-5p	PAR-CLIP	21572407
MIRT060016	hsa-miR-4664-5p	PAR-CLIP	21572407
MIRT060009	hsa-miR-1297	PAR-CLIP	21572407
MIRT060004	hsa-miR-26a-5p	PAR-CLIP	21572407
MIRT029478	hsa-miR-26b-5p	PAR-CLIP	21572407
MIRT060013	hsa-miR-4465	PAR-CLIP	21572407
MIRT544308	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT710128	hsa-miR-6752-3p	HITS-CLIP	19536157
MIRT710127	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT710126	hsa-miR-5008-5p	HITS-CLIP	19536157
MIRT710125	hsa-miR-3173-5p	HITS-CLIP	19536157
MIRT710124	hsa-miR-6799-3p	HITS-CLIP	19536157
MIRT710123	hsa-miR-874-5p	HITS-CLIP	19536157
MIRT710122	hsa-miR-1291	HITS-CLIP	19536157
MIRT710121	hsa-miR-6775-3p	HITS-CLIP	19536157
MIRT710120	hsa-miR-4313	HITS-CLIP	19536157
MIRT646070	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT646069	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT646068	hsa-miR-4733-5p	HITS-CLIP	23824327
MIRT646067	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT646066	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT663120	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT646065	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT646064	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT646063	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT646062	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT646061	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT646060	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT646070	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT646069	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT646068	hsa-miR-4733-5p	HITS-CLIP	23824327
MIRT646067	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT646066	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT646065	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT646064	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT646063	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT646062	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT646061	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT646060	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT060011	hsa-miR-1276	PAR-CLIP	20371350
MIRT544311	hsa-miR-4760-3p	PAR-CLIP	20371350
MIRT060018	hsa-miR-451b	PAR-CLIP	20371350
MIRT544310	hsa-miR-5697	PAR-CLIP	20371350
MIRT060009	hsa-miR-1297	PAR-CLIP	20371350
MIRT060004	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT029478	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT060013	hsa-miR-4465	PAR-CLIP	20371350
MIRT544308	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT060011	hsa-miR-1276	PAR-CLIP	20371350
MIRT544311	hsa-miR-4760-3p	PAR-CLIP	20371350
MIRT060018	hsa-miR-451b	PAR-CLIP	20371350
MIRT544310	hsa-miR-5697	PAR-CLIP	20371350
MIRT060009	hsa-miR-1297	PAR-CLIP	20371350
MIRT060004	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT029478	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT060013	hsa-miR-4465	PAR-CLIP	20371350
MIRT544308	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT060011	hsa-miR-1276	PAR-CLIP	21572407
MIRT544311	hsa-miR-4760-3p	PAR-CLIP	21572407
MIRT060018	hsa-miR-451b	PAR-CLIP	21572407
MIRT544310	hsa-miR-5697	PAR-CLIP	21572407
MIRT060005	hsa-miR-342-5p	PAR-CLIP	21572407
MIRT060016	hsa-miR-4664-5p	PAR-CLIP	21572407
MIRT060009	hsa-miR-1297	PAR-CLIP	21572407
MIRT060004	hsa-miR-26a-5p	PAR-CLIP	21572407
MIRT029478	hsa-miR-26b-5p	PAR-CLIP	21572407
MIRT060013	hsa-miR-4465	PAR-CLIP	21572407
MIRT544308	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT060011	hsa-miR-1276	PAR-CLIP	21572407
MIRT544311	hsa-miR-4760-3p	PAR-CLIP	21572407
MIRT060018	hsa-miR-451b	PAR-CLIP	21572407
MIRT544310	hsa-miR-5697	PAR-CLIP	21572407
MIRT060005	hsa-miR-342-5p	PAR-CLIP	21572407
MIRT060016	hsa-miR-4664-5p	PAR-CLIP	21572407
MIRT060009	hsa-miR-1297	PAR-CLIP	21572407
MIRT060004	hsa-miR-26a-5p	PAR-CLIP	21572407
MIRT029478	hsa-miR-26b-5p	PAR-CLIP	21572407
MIRT060013	hsa-miR-4465	PAR-CLIP	21572407
MIRT544308	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT1482286	hsa-miR-1178	CLIP-seq
MIRT1482287	hsa-miR-1253	CLIP-seq
MIRT1482288	hsa-miR-1255a	CLIP-seq
MIRT1482289	hsa-miR-1255b	CLIP-seq
MIRT1482290	hsa-miR-140-3p	CLIP-seq
MIRT1482291	hsa-miR-188-5p	CLIP-seq
MIRT1482292	hsa-miR-1909	CLIP-seq
MIRT1482293	hsa-miR-1915	CLIP-seq
MIRT1482294	hsa-miR-22	CLIP-seq
MIRT1482295	hsa-miR-2682	CLIP-seq
MIRT1482296	hsa-miR-28-5p	CLIP-seq
MIRT1482297	hsa-miR-3139	CLIP-seq
MIRT1482298	hsa-miR-3150b-3p	CLIP-seq
MIRT1482299	hsa-miR-3157-3p	CLIP-seq
MIRT1482300	hsa-miR-3202	CLIP-seq
MIRT1482301	hsa-miR-3613-3p	CLIP-seq
MIRT1482302	hsa-miR-3614-5p	CLIP-seq
MIRT1482303	hsa-miR-362-5p	CLIP-seq
MIRT1482304	hsa-miR-3660	CLIP-seq
MIRT1482305	hsa-miR-3667-5p	CLIP-seq
MIRT1482306	hsa-miR-3714	CLIP-seq
MIRT1482307	hsa-miR-371b-5p	CLIP-seq
MIRT1482308	hsa-miR-4433	CLIP-seq
MIRT1482309	hsa-miR-4438	CLIP-seq
MIRT1482310	hsa-miR-4446-3p	CLIP-seq
MIRT1482311	hsa-miR-4475	CLIP-seq
MIRT1482312	hsa-miR-4492	CLIP-seq
MIRT1482313	hsa-miR-4498	CLIP-seq
MIRT1482314	hsa-miR-449c	CLIP-seq
MIRT1482315	hsa-miR-4505	CLIP-seq
MIRT1482316	hsa-miR-4513	CLIP-seq
MIRT1482317	hsa-miR-4526	CLIP-seq
MIRT1482318	hsa-miR-4533	CLIP-seq
MIRT1482319	hsa-miR-4640-5p	CLIP-seq
MIRT1482320	hsa-miR-4650-5p	CLIP-seq
MIRT1482321	hsa-miR-4685-5p	CLIP-seq
MIRT1482322	hsa-miR-4689	CLIP-seq
MIRT1482323	hsa-miR-4726-3p	CLIP-seq
MIRT1482324	hsa-miR-4726-5p	CLIP-seq
MIRT1482325	hsa-miR-4740-5p	CLIP-seq
MIRT1482326	hsa-miR-4749-3p	CLIP-seq
MIRT1482327	hsa-miR-4784	CLIP-seq
MIRT1482328	hsa-miR-485-3p	CLIP-seq
MIRT1482329	hsa-miR-500a	CLIP-seq
MIRT1482330	hsa-miR-500b	CLIP-seq
MIRT1482331	hsa-miR-502-5p	CLIP-seq
MIRT1482332	hsa-miR-5095	CLIP-seq
MIRT1482333	hsa-miR-545	CLIP-seq
MIRT1482334	hsa-miR-548an	CLIP-seq
MIRT1482335	hsa-miR-558	CLIP-seq
MIRT1482336	hsa-miR-645	CLIP-seq
MIRT1482337	hsa-miR-708	CLIP-seq
MIRT1482338	hsa-miR-762	CLIP-seq
MIRT1482339	hsa-miR-765	CLIP-seq
MIRT1482340	hsa-miR-877	CLIP-seq
MIRT1482341	hsa-miR-888	CLIP-seq
MIRT1482342	hsa-miR-890	CLIP-seq
MIRT2145163	hsa-miR-1225-5p	CLIP-seq
MIRT2145164	hsa-miR-216a	CLIP-seq
MIRT2145165	hsa-miR-3115	CLIP-seq
MIRT2145166	hsa-miR-3123	CLIP-seq
MIRT1482300	hsa-miR-3202	CLIP-seq
MIRT2145167	hsa-miR-3919	CLIP-seq
MIRT2145168	hsa-miR-4270	CLIP-seq
MIRT2145169	hsa-miR-4311	CLIP-seq
MIRT2145170	hsa-miR-4441	CLIP-seq
MIRT1482318	hsa-miR-4533	CLIP-seq
MIRT2145171	hsa-miR-4710	CLIP-seq
MIRT2145172	hsa-miR-4756-3p	CLIP-seq
MIRT2145173	hsa-miR-4768-3p	CLIP-seq
MIRT2365426	hsa-miR-1271	CLIP-seq
MIRT2365427	hsa-miR-1289	CLIP-seq
MIRT1482290	hsa-miR-140-3p	CLIP-seq
MIRT2365428	hsa-miR-146b-3p	CLIP-seq
MIRT2365429	hsa-miR-182	CLIP-seq
MIRT1482293	hsa-miR-1915	CLIP-seq
MIRT2365430	hsa-miR-214	CLIP-seq
MIRT2365431	hsa-miR-3619-5p	CLIP-seq
MIRT2365432	hsa-miR-3652	CLIP-seq
MIRT1482304	hsa-miR-3660	CLIP-seq
MIRT2145168	hsa-miR-4270	CLIP-seq
MIRT2365433	hsa-miR-4291	CLIP-seq
MIRT2365434	hsa-miR-4318	CLIP-seq
MIRT2365435	hsa-miR-4430	CLIP-seq
MIRT2145170	hsa-miR-4441	CLIP-seq
MIRT2365436	hsa-miR-4474-3p	CLIP-seq
MIRT1482315	hsa-miR-4505	CLIP-seq
MIRT1482317	hsa-miR-4526	CLIP-seq
MIRT1482323	hsa-miR-4726-3p	CLIP-seq
MIRT1482325	hsa-miR-4740-5p	CLIP-seq
MIRT2365437	hsa-miR-760	CLIP-seq
MIRT2365438	hsa-miR-761	CLIP-seq
MIRT1482339	hsa-miR-765	CLIP-seq
MIRT2365439	hsa-miR-874	CLIP-seq
MIRT2365440	hsa-miR-922	CLIP-seq
MIRT2365441	hsa-miR-96	CLIP-seq
MIRT2466327	hsa-miR-1207-5p	CLIP-seq
MIRT2466328	hsa-miR-124	CLIP-seq
MIRT1482288	hsa-miR-1255a	CLIP-seq
MIRT1482289	hsa-miR-1255b	CLIP-seq
MIRT1482292	hsa-miR-1909	CLIP-seq
MIRT1482294	hsa-miR-22	CLIP-seq
MIRT1482296	hsa-miR-28-5p	CLIP-seq
MIRT1482297	hsa-miR-3139	CLIP-seq
MIRT1482298	hsa-miR-3150b-3p	CLIP-seq
MIRT1482306	hsa-miR-3714	CLIP-seq
MIRT2466329	hsa-miR-3910	CLIP-seq
MIRT1482322	hsa-miR-4689	CLIP-seq
MIRT2466330	hsa-miR-4763-3p	CLIP-seq
MIRT1482327	hsa-miR-4784	CLIP-seq
MIRT2466331	hsa-miR-506	CLIP-seq
MIRT1482335	hsa-miR-558	CLIP-seq
MIRT1482337	hsa-miR-708	CLIP-seq
MIRT1482339	hsa-miR-765	CLIP-seq
MIRT2466332	hsa-miR-940	CLIP-seq

Show/Hide all (70)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001725	Component	Stress fiber	IEA
GO:0001736	Process	Establishment of planar polarity	IBA
GO:0001736	Process	Establishment of planar polarity	IEA
GO:0001736	Process	Establishment of planar polarity	ISS
GO:0001843	Process	Neural tube closure	IEA
GO:0001843	Process	Neural tube closure	ISS
GO:0001942	Process	Hair follicle development	IEA
GO:0001947	Process	Heart looping	IEA
GO:0001947	Process	Heart looping	ISS
GO:0003149	Process	Membranous septum morphogenesis	IEA
GO:0003150	Process	Muscular septum morphogenesis	IEA
GO:0005515	Function	Protein binding	IPI	22610794, 28330616, 28514442, 30126976, 33961781
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IEA
GO:0005911	Component	Cell-cell junction	ISS
GO:0007266	Process	Rho protein signal transduction	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0016328	Component	Lateral plasma membrane	ISS
GO:0022007	Process	Convergent extension involved in neural plate elongation	IEA
GO:0030111	Process	Regulation of Wnt signaling pathway	IEA
GO:0030134	Component	COPII-coated ER to Golgi transport vesicle	IEA
GO:0032835	Process	Glomerulus development	IEA
GO:0032956	Process	Regulation of actin cytoskeleton organization	IEA
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0035567	Process	Non-canonical Wnt signaling pathway	IEA
GO:0035787	Process	Cell migration involved in kidney development	IEA
GO:0035787	Process	Cell migration involved in kidney development	ISS
GO:0036342	Process	Post-anal tail morphogenesis	IEA
GO:0036514	Process	Dopaminergic neuron axon guidance	IEA
GO:0036514	Process	Dopaminergic neuron axon guidance	ISS
GO:0036515	Process	Serotonergic neuron axon guidance	IEA
GO:0036515	Process	Serotonergic neuron axon guidance	ISS
GO:0042060	Process	Wound healing	IEA
GO:0045176	Process	Apical protein localization	IEA
GO:0045176	Process	Apical protein localization	ISS
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	IEA
GO:0048103	Process	Somatic stem cell division	IEA
GO:0048105	Process	Establishment of body hair planar orientation	IEA
GO:0048546	Process	Digestive tract morphogenesis	IEA
GO:0060028	Process	Convergent extension involved in axis elongation	IEA
GO:0060029	Process	Convergent extension involved in organogenesis	IEA
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	IBA
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	IEA
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	ISS
GO:0060119	Process	Inner ear receptor cell development	IEA
GO:0060122	Process	Inner ear receptor cell stereocilium organization	IEA
GO:0060187	Component	Cell pole	IEA
GO:0060488	Process	Orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis	IEA
GO:0060489	Process	Planar dichotomous subdivision of terminal units involved in lung branching morphogenesis	IEA
GO:0060490	Process	Lateral sprouting involved in lung morphogenesis	IEA
GO:0060993	Process	Kidney morphogenesis	IEA
GO:0071944	Component	Cell periphery	IEA
GO:0090102	Process	Cochlea development	IEA
GO:0090103	Process	Cochlea morphogenesis	IEA
GO:0090175	Process	Regulation of establishment of planar polarity	IEA
GO:0090177	Process	Establishment of planar polarity involved in neural tube closure	IEA
GO:0090651	Component	Apical cytoplasm	IEA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:1905515	Process	Non-motile cilium assembly	ISS
GO:1905806	Process	Regulation of synapse pruning	IEA

MIM	HGNC	e!Ensembl
600533	15511	ENSG00000162738

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

MDTESQYSGYSYKSGHSRSSRKHRDRRDRHRSKSRDGGRGDKSVTIQAPGEPLLDNESTR
GDERDDNWGETTTVVTGTSEHSISHDDLTRIAKDMEDSVPLDCSRHLGVAAGATLALLSF
LTPLAFLLLPPLLWREELEPCGTACEGLFISVAFKLLILLLGSWALFFRRPKASLPRVFV
LRALLMVLVFLLVVSYWLFYGVRILDARERSYQGVVQFAVSLVDALLFVHYLAVVLLELR
QLQPQFTLKVVRSTDGASRFYNVGHLSIQRVAVWILEKYYHDFPVYNPALLNLPKSVLAK
KVSGFKVYSLGEENSTNNSTGQSRAVIAAAARRRDNSHNEYYYEEAEHERRVRKRRARLV
VAVEEAFTHIKRLQEEEQKNPREVMDPREAAQAIFASMARAMQKYLRTTKQQPYHTMESI
LQHLEFCITHDMTPKAFLERYLAAGPTIQYHKERWLAKQWTLVSEEPVTNGLKDGIVFLL
KRQDFSLVVSTKKVPFFKLSEEFVDPKSHKFVMRLQSETSV

Sequence length

521

Interactions

View interactions

	KEGG
	Wnt signaling pathway

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANENCEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAVES DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural tube defect	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECT, FOLATE-SENSITIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS X-LINKED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural tube defects, susceptibility to	Uncertain significance; risk factor	ClinVar ClinVar, GenCC, HPO ClinVar, GenCC, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VANGL2-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (79)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acrania	Acrania	CTD_human_DG	2373757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anencephaly	Anencephaly	ORPHANET_DG	20558380		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anencephaly	Anencephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	BEFREE	30414501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bohring syndrome	Bohring syndrome	Pubtator	37053013, 39614348	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26754771, 31534541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervical spina bifida aperta	Cervical spina bifida aperta	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervical spina bifida cystica	Cervical spina bifida cystica	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervicothoracic spina bifida aperta	Cervicothoracic Spina Bifida	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervicothoracic spina bifida cystica	Cervicothoracic Spina Bifida	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23579212		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23579212	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30127218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniorachischisis	Craniorachischisis	BEFREE	21674647, 23592378, 23760952, 25068569, 26368655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniorachischisis	Craniorachischisis	CTD_human_DG	2373757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	31068622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29806631		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diastematomyelia	Diastematomyelia	CTD_human_DG	2373757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	29499154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exencephaly	Anencephaly	CTD_human_DG	2373757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	30125361		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28698893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28698893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28481871		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28481871	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Iniencephaly	Anencephaly	CTD_human_DG	2373757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated anencephaly	Isolated Anencephaly	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated exencephaly	Isolated Exencephaly	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12060845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lumbosacral spina bifida aperta	Lumbosacral Spina Bifida Aperta	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lumbosacral spina bifida cystica	Lumbosacral Spina Bifida Cystica	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	32107851	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	29499154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26754771, 31534541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	12011999, 12060845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12011999, 12060845, 29107170, 31546971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	31534541		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	12011999, 12060845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	BEFREE	23024041		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple lipomata	Multiple Lipomata	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	12011999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	38232516	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12060845, 25210149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	30125361		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	20329788, 20738329, 21246654, 21840926, 23029439, 23359061, 24203697, 25068569, 25208524, 26227058, 26368655		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural tube defect	Pubtator	20738329, 33684218	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural Tube Defect	CTD_human_DG	2373757		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural Tube Defect	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurenteric Cyst	Neurenteric Cyst	CTD_human_DG	2373757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	27036398		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	29806631	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary craniopharyngioma	Papillary Craniopharyngioma	BEFREE	28599846, 28660073, 29784671, 30327324		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Recessive	Polycystic kidney disease	Pubtator	30414501	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rachischisis	Rachischisis	CTD_human_DG	21404367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	30125361		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	29499154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sacral agenesis	Sacral Agenesis	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sacral agenesis	Sacral Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic cerebral palsy	Spastic Cerebral Palsy	BEFREE	31189336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	CTD_human_DG	21404367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	26368655, 29590636, 30189017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina bifida aperta of cervical spine	Spina Bifida	ORPHANET_DG	20738329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Cord Myelodysplasia	Spinal Cord Myelodysplasia	CTD_human_DG	2373757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Dysraphicus	Status Dysraphicus	CTD_human_DG	21404367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	12011999, 12060845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	BEFREE	12011973, 12011999, 12060845, 21674647, 28384160, 28456546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tethered Cord Syndrome	Primary Tethered cord syndrome	CTD_human_DG	2373757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	18034999, 25200836		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thoracolumbosacral spina bifida aperta	Thoracolumbosacral spina bifida aperta	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thoracolumbosacral spina bifida cystica	Thoracolumbosacral spina bifida cystica	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Total spina bifida aperta	Spina Bifida Cystica	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Total spina bifida cystica	Spina Bifida Cystica	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Upper thoracic spina bifida aperta	Upper Thoracic Spina Bifida Aperta	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Upper thoracic spina bifida cystica	Upper Thoracic Spina Bifida Cystica	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only

VANGL2 (VANGL planar cell polarity protein 2)