• Gene id: 57216

Gene Summary

• Gene Symbol: VANGL2   Gene   UCSC   Ensembl
• Aliases: LPP1, LTAP, STB1, STBM, STBM1
• Gene name: VANGL planar cell polarity protein 2
• Alternate names: vang-like protein 2, loop-tail protein 1 homolog, loop-tail-associated protein, strabismus 1, van Gogh-like protein 2, vang-like 2 (van gogh, Drosophila),
• Gene location: 1q23.2 (160400563: 160428673)     Exons: 6     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 600533

Protein Summary

• Protein general information: Q9ULK5  
  • Name: Vang like protein 2 (Loop tail protein 1 homolog) (Strabismus 1) (Van Gogh like protein 2)
  • Length: 521  
  • Mass: 59714
• Sequence:

  MDTESQYSGYSYKSGHSRSSRKHRDRRDRHRSKSRDGGRGDKSVTIQAPGEPLLDNESTRGDERDDNWGETTTVV
  TGTSEHSISHDDLTRIAKDMEDSVPLDCSRHLGVAAGATLALLSFLTPLAFLLLPPLLWREELEPCGTACEGLFI
  SVAFKLLILLLGSWALFFRRPKASLPRVFVLRALLMVLVFLLVVSYWLFYGVRILDARERSYQGVVQFAVSLVDA
  LLFVHYLAVVLLELRQLQPQFTLKVVRSTDGASRFYNVGHLSIQRVAVWILEKYYHDFPVYNPALLNLPKSVLAK
  KVSGFKVYSLGEENSTNNSTGQSRAVIAAAARRRDNSHNEYYYEEAEHERRVRKRRARLVVAVEEAFTHIKRLQE
  EEQKNPREVMDPREAAQAIFASMARAMQKYLRTTKQQPYHTMESILQHLEFCITHDMTPKAFLERYLAAGPTIQY
  HKERWLAKQWTLVSEEPVTNGLKDGIVFLLKRQDFSLVVSTKKVPFFKLSEEFVDPKSHKFVMRLQSETSV

• Structural information:
  • Interpro: IPR009539  
  • STRING: ENSP00000357040
• Other Databases: GeneCards:  VANGL2  Malacards:  VANGL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1904938	planar cell polarity pathway involved in axon guidance	IEA	biological process
GO:0090177	establishment of planar polarity involved in neural tube closure	IEA	biological process
GO:0071944	cell periphery	IEA	cellular component
GO:0060488	orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis	IEA	biological process
GO:0060187	cell pole	IEA	cellular component
GO:0060122	inner ear receptor cell stereocilium organization	IEA	biological process
GO:0060029	convergent extension involved in organogenesis	IEA	biological process
GO:0048105	establishment of body hair planar orientation	IEA	biological process
GO:0045176	apical protein localization	IEA	biological process
GO:0042060	wound healing	IEA	biological process
GO:0036515	serotonergic neuron axon guidance	IEA	biological process
GO:0036514	dopaminergic neuron axon guidance	IEA	biological process
GO:0036342	post-anal tail morphogenesis	IEA	biological process
GO:0035787	cell migration involved in kidney development	IEA	biological process
GO:0035567	non-canonical Wnt signaling pathway	IEA	biological process
GO:0032835	glomerulus development	IEA	biological process
GO:0016328	lateral plasma membrane	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0007266	Rho protein signal transduction	IEA	biological process
GO:0005911	cell-cell junction	IEA	cellular component
GO:0003402	planar cell polarity pathway involved in axis elongation	IEA	biological process
GO:0001947	heart looping	IEA	biological process
GO:0001942	hair follicle development	IEA	biological process
GO:1905515	non-motile cilium assembly	IEA	biological process
GO:0090179	planar cell polarity pathway involved in neural tube closure	IEA	biological process
GO:0090175	regulation of establishment of planar polarity	IEA	biological process
GO:0090103	cochlea morphogenesis	IEA	biological process
GO:0090102	cochlea development	IEA	biological process
GO:0061346	planar cell polarity pathway involved in heart morphogenesis	IEA	biological process
GO:0060993	kidney morphogenesis	IEA	biological process
GO:0060490	lateral sprouting involved in lung morphogenesis	IEA	biological process
GO:0060489	planar dichotomous subdivision of terminal units involved in lung branching morphogenesis	IEA	biological process
GO:0060119	inner ear receptor cell development	IEA	biological process
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	IEA	biological process
GO:0060028	convergent extension involved in axis elongation	IEA	biological process
GO:0048546	digestive tract morphogenesis	IEA	biological process
GO:0048103	somatic stem cell division	IEA	biological process
GO:0045197	establishment or maintenance of epithelial cell apical/basal polarity	IEA	biological process
GO:0043507	positive regulation of JUN kinase activity	IEA	biological process
GO:0035019	somatic stem cell population maintenance	IEA	biological process
GO:0032956	regulation of actin cytoskeleton organization	IEA	biological process
GO:0030134	COPII-coated ER to Golgi transport vesicle	IEA	cellular component
GO:0030111	regulation of Wnt signaling pathway	IEA	biological process
GO:0022007	convergent extension involved in neural plate elongation	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0003150	muscular septum morphogenesis	IEA	biological process
GO:0003149	membranous septum morphogenesis	IEA	biological process
GO:0001843	neural tube closure	IEA	biological process
GO:0001736	establishment of planar polarity	IEA	biological process
GO:0001725	stress fiber	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016324	apical plasma membrane	ISS	cellular component
GO:0001843	neural tube closure	ISS	biological process
GO:0001736	establishment of planar polarity	ISS	biological process
GO:0001947	heart looping	ISS	biological process
GO:0045176	apical protein localization	ISS	biological process
GO:0035787	cell migration involved in kidney development	ISS	biological process
GO:0016328	lateral plasma membrane	ISS	cellular component
GO:0005911	cell-cell junction	ISS	cellular component
GO:1905515	non-motile cilium assembly	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04310	Wnt signaling pathway

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq