VANGL2 - VANGL planar cell polarity protein 2 Gene

Homo sapiens

Also known as LPP1; LTAP; STB1; STBM; STBM1

Gene ID: 57216 | Gene type: protein coding

About VANGL2

Cytogenetic location: 1q23.2 Genomic coordinates (GRCh38): 1:160,400,564-160,428,670 (from NCBI)

This gene has 3 transcripts (splice variants), 257 orthologues, 1 paralogue and is associated with 15 phenotypes. Broad expression in skin (RPKM 17.0), brain (RPKM 6.7) and 20 other tissues.

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 epithelial sheets. This protein is also involved in the development of the neural plate. [provided by RefSeq, Sep 2011]

VANGL2 Products(1)

mRNA	Protein	Name
NM_020335.3	NP_065068.1	vang-like protein 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22610794	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

VANGL2 Protein Structure

Strabismus

0
100
200
300
400
521 a.a.

Protein Preferred Names

Protein Names

vang-like protein 2

loop-tail protein 1 homolog

VANGL2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	VANGL2	Q9ULK5	HSPA8	Homo sapiens	P11142	Anti Tag CoIP	33961781
Intra	VANGL2	Q9ULK5	HSPA8	Homo sapiens	P11142	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Neural Tube Defects

Spina Bifida	Neural Tube Defect
NTD	Neural Tube Defects, Susceptibility To
Spinal Dysraphism	Spina Bifida, Susceptibility To
Rachischisis	Cleft Spine
Open Spine	Hydrocele Spinalis
Neural Tube Defect Nos	Sb - [Spina Bifida]
Spinal Hernia Nos	Spinal Fissure Nos

Isolated Exencephaly

Isolated Anencephaly

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

Upper Thoracic Spina Bifida Cystica

Cervicothoracic Spina Bifida Cystica

Cervical Spina Bifida Cystica

Lumbosacral Spina Bifida Cystica

Thoracolumbosacral Spina Bifida Cystica

Total Spina Bifida Cystica

Upper Thoracic Spina Bifida Aperta

Thoracolumbosacral Spina Bifida Aperta

Lumbosacral Spina Bifida Aperta

Cervical Spina Bifida Aperta

Spina Bifida Aperta Of Cervical Spine

Cervicothoracic Spina Bifida Aperta

Total Spina Bifida Aperta

Craniorachischisis

Anencephaly With Rachischisis

Myelomeningocele

Meningomyelocele

Anencephaly

Aprosencephaly	Anencephalus
Congenital Absence Of Brain	Absence Of A Large Part Of The Brain And The Skull
Anencephalia	Anencephalic Monster
Brain Absence	Brain Agenesis
Brain Aplasia	Absent Brain
Anencephalic	Congenital Absence Of Cerebrum
Congenital Hemicrania	Incomplete Anencephaly

Ocular Motility Disease

Ocular Motility Disorders	Abnormality Of Eye Movement
Disorder Of Eye Movements	Eye Movement Disorder
Eye Movement Disorders

Brachydactyly, Type B1

Brachydactyly Type B1	Brachydactyly Type B
BDB1	Brachydactyly, Type B
Bdb	Brachydactyly B1

Robinow Syndrome

Acral Dysostosis With Facial And Genital Abnormalities	Fetal Face Syndrome
Robinow Dwarfism	Mesomelic Dwarfism-Small Genitalia Syndrome
Robinow-Silverman-Smith Syndrome	Costovertebral Segmentation Defect With Mesomelia
Covesdem Syndrome	Robinow'S Syndrome
Robinow-Silverman Syndrome

Spinal Cord Lipoma

Lipoma Of Spinal Cord

Tetralogy Of Fallot

TOF	Fallot Tetralogy
Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle	Tetrad Of Fallot
Fallot Tetrad	Fallot Disease
Fallot Complex	Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy
Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle	Interventricular Septal Defect, In Tetralogy Of Fallot
Ventricular Septal Defect With Obstructed Right Ventricular Outflow	Tof - [Tetralogy Of Fallot]
Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]	Pulmonary Atresia, Ventricular Septal Defect And Mapcas
Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Bardet-Biedl Syndrome 8

BBS8	Bardet-Biedl Syndrome, Type 8

Spina Bifida Occulta

Tethered Spinal Cord Syndrome

Spinal Dysraphism	Tethered Cord Syndrome
Occult Spinal Dysraphism	Occult Spinal Dysraphism Sequence
Segmental Vertebral Anomalies	Tethered Spinal Cord Disease
Tethered Cord	Spina Bifida Occulta
Cryptomerorachischisis	Spina Bifida Occulta With Tethered Spinal Cord
Sbo - [Spina Bifida Occulta]

Refractive Error

Refractive Errors

Meckel Syndrome, Type 1

Meckel-Gruber Syndrome	Meckel Syndrome
Dysencephalia Splanchnocystica	Meckel Syndrome 1
MKS1	Mks
Gruber Syndrome	Meckel-Gruber Syndrome, Type 1
Mes	Dysencephalia Splachnocystica
Meckel Gruber Syndrome	Meckel Syndrome Type 1

Atrial Septal Defect 2

ASD2	Atrial Heart Septal Defect 2
Atrial Septal Defect-2	Asd Ii
Septal Defect, Atrial, Type 2

Double Outlet Right Ventricle

Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect	Taussig-Bing Syndrome
Dextrotransposition Of Aorta	Taussig-Bing Syndrome Or Defect
Dorv	Dorv With Subpulmonary Vsd
Dorv-Tga	Double Outlet Right Ventricle With Transposition Of The Great Arteries
Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type	Taussig-Bing Heart
Taussig-Bing Malformation	Taussig-Bing Complex
Taussig-Bing Defect	Taussig-Bing
Double Outlet Right Ventricle With Remote Ventricular Septal Defect	Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect
Double Outlet Right Ventricle With Non-Committed Interventricular Communication	Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis
Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis

Robinow Syndrome, Autosomal Recessive 1

Robinow Syndrome, Autosomal Recessive	Autosomal Recessive Robinow Syndrome
Covesdem Syndrome	RRS1
Costovertebral Segmentation Defect-Mesomelia Syndrome	Rrs
Costovertebral Segmentation Defect With Mesomelia, Formerly	Covesdem Syndrome, Formerly
Costovertebral Segmentation Defect With Mesomelia	Robinow Syndrome Autosomal Recessive With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals
Robinow Syndrome Autosomal Recessive With Brachy-Syn-Polydactyly	Robinow Syndrome, Autosomal Recessive, With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals
Robinow Syndrome, Autosomal Recessive, With Brachy-Syn-Polydactyly	Robinow, Autosomal Recessive Syndrome, Type 1

Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease

Autosomal Recessive Polycystic Kidney Disease	Arpkd
Polycystic Kidney Disease, Autosomal Recessive	Polycystic Kidney And Hepatic Disease 1
Pkhd1	PKD4
Polycystic Kidney Disease 4 With Or Without Hepatic Disease	Polycystic Kidney Disease, Infantile, Type I
Polycystic Kidney Disease, Infantile Type	Polycystic Kidney, Autosomal Recessive
Pkd3, Formerly	Polycystic Kidney Disease 4, With Or Without Hepatic Disease
Arpkd/Chf	Ar-Pkd
Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease	Infantile Polycystic Kidney Disease Type I
Pkd3	Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease
Polycystic Kidney Disease 3, Autosomal Dominant

Visceral Heterotaxy

Situs Ambiguus	Heterotaxia
Heterotaxy Syndrome	Heterotaxy
Lateralization Defect	Situs Ambiguous
Left Isomerism	Htx
Ivemark Syndrome	Right Isomerism
Situs Ambiguus Viscerum	Incomplete Situs Inversus
Partial Situs Inversus	Heterotaxy, Visceral
Asplenia Syndrome	Bilateral Left-Sidedness
Polysplenia Syndrome	Moller Syndrome

Nephronophthisis

Medullary Cystic Disease	Medullary Cystic Kidney
Nph	Nphp
Kidney Disease, Cystic, Medullary

Polycystic Kidney Disease

Polycystic Kidney Diseases	Pkd
Polycystic Renal Disease	Kidney Disease, Polycystic
Polycystic Kidney, Autosomal Dominant

Joubert Syndrome 1

Joubert Syndrome	Jbts
Cerebellooculorenal Syndrome 1	JBTS1
Joubert-Boltshauser Syndrome	Cerebelloparenchymal Disorder Iv
Cpd4	Cors1
Joubert Syndrome And Related Disorders	Jsrd
Familial Aplasia Of The Vermis	Joubert Syndrome Related Disorders
Js	Cerebellar Vermis Agenesis
Cerebelloparenchymal Disorder 4	Agenesis Of Cerebellar Vermis
Cerebello-Oculo-Renal Syndrome	Cors
Joubert-Bolthauser Syndrome	Cpd Iv
Classic Joubert Syndrome	Joubert Syndrome Type A
Pure Joubert Syndrome	Cerebello-Oculo-Renal Syndrome 1
Joubert Syndrome-1	Joubert Syndrome, Type 1
Joubert'S Syndrome

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome	Kartagener Syndrome
Dextrocardia Bronchiectasis And Sinusitis	Pcd
Ciliary Motility Disorders	Ciliary Motility Disorder
Immotile Ciliary Syndrome	Ciliary Dyskinesia Primary
Ics	Polynesian Bronchiectasis
Dextrocardia-Bronchiectasis-Sinusitis Syndrome	Immotile Cilia Syndrome, Kartagener Type
Primary Ciliary Dyskinesia And Situs Inversus	Primary Ciliary Dyskinesia, Kartagener Type
Siewert Syndrome	Dyskinesia, Ciliary, Primary

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15601	VANGL2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	VANGL2	VGNC	VGNC:78975
Bos taurus	VANGL2	VGNC	VGNC:36762
Felis catus	VANGL2	VGNC	VGNC:66916
Mus musculus	VANGL2	MGD	MGI:2135272
Rattus norvegicus	VANGL2	RGD	RGD:1309442