VANGL1 - VANGL planar cell polarity protein 1 Gene

Homo sapiens

Also known as LPP2; STB2; STBM2; KITENIN

Gene ID: 81839 | Gene type: protein coding

About VANGL1

Cytogenetic location: 1p13.1 Genomic coordinates (GRCh38): 1:115,641,970-115,698,221 (from NCBI)

This gene has 6 transcripts (splice variants), 267 orthologues, 1 paralogue and is associated with 16 phenotypes. Ubiquitous expression in esophagus (RPKM 4.2), thyroid (RPKM 3.8) and 25 other tissues.

Summary

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 splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]

VANGL1 Products(3)

mRNA	Protein	Name
NM_001172411.2	NP_001165882.1	vang-like protein 1 isoform 2
NM_001172412.2	NP_001165883.1	vang-like protein 1 isoform 1
NM_138959.3	NP_620409.1	vang-like protein 1 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15205336	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

VANGL1 Protein Structure

Strabismus

0
100
200
300
400
524 a.a.

Protein Preferred Names

Protein Names

vang-like protein 1

KAI1 C-terminal interacting tetraspanin

VANGL1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	VANGL1	Q8TAA9	CREB3	Homo sapiens	O43889-2	Validated Y2H	25910212
Intra	VANGL1	Q8TAA9	CREB3	Homo sapiens	O43889-2	Y2H Array	25910212
Intra	VANGL1	Q8TAA9	CREB3	Homo sapiens	O43889-2	Y2H Bait-Prey Pool	25910212
Intra	VANGL1	Q8TAA9	CD82	Homo sapiens	P27701	IF	15205336
Intra	VANGL1	Q8TAA9	CD82	Homo sapiens	P27701	Y2H	15205336

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Sacral Defect With Anterior Meningocele

Caudal Regression Syndrome	Caudal Regression Sequence
Sacral Agenesis	Caudal Dysgenesis Syndrome
SDAM	Caudal Dysplasia Sequence
Caudal Dysplasia	Sacral Agenesis Syndrome
Sacral Regression Syndrome	Sacral Defect And Anterior Sacral Meningocele
Rudd Klimek Syndrome	Sirenomelia

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

Myelomeningocele

Meningomyelocele

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

Strabismus

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

Meningocele

Isolated Spina Bifida	Spina Bifida
Cleft Spine	Open Spine
Rachischisis	Spinal Dysraphism
Spinal Meningocele	Congenital Meningocele

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

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]

Spinal Cord Lipoma

Lipoma Of Spinal Cord

Currarino Syndrome

Currarino Triad	Partial Sacral Agenesis With Intact First Sacral Vertebra, Presacral Mass And Anorectal Malformation
CURRAS

Brachydactyly, Type B1

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

Ocular Motility Disease

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

Scoliosis

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

Hepatocellular Carcinoma

Liver Cancer	Primary Liver Cancer
HCC	Hepatoma
Malignant Neoplasm Of Liver	Liver Neoplasms
Cancer, Hepatocellular	Liver Cell Carcinoma
Lcc	Hepatoblastoma, Somatic
Hepatic Cancer	Primary Malignant Neoplasm Of Liver
Rare Tumor Of Liver And Intrahepatic Biliary Tract	Hepatocellular Carcinoma, Somatic
Hepatocellular Carcinoma, Childhood Type, Somatic	Hepatocellular Cancer, Somatic
Ca Liver - Primary	Hepatic Neoplasm
Malignant Hepato-Biliary Neoplasm	Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary
Malignant Neoplasm Of Liver, Primary	Malignant Tumor Of Liver
Neoplasm Of Liver	Non-Resectable Primary Hepatic Malignant Neoplasm
Resectable Malignant Neoplasm Of Liver	Resectable Malignant Neoplasm Of The Liver
Primary Liver Carcinoma	Primary Malignant Liver Neoplasm
Primary Cancer Of Liver	Primary Tumor Of The Liver
Rare Tumor Of Liver And Ibt	Hepatocellular Cancer
Neoplasm Of The Liver	Carcinoma, Hepatocellular
Hepatomas	Liver Neoplasm
Liver Carcinoma	Liver And Intrahepatic Biliary Tract Carcinoma
Malignant Hepatobiliary Neoplasm	Adult Primary Hepatocellular Carcinoma
Hepatoblastoma	Carcinoma Of Liver
Malignant Liver Tumour	Malignant Hepatic Tumour

Constipation

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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-RS15600	VANGL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	VANGL1	VGNC	VGNC:48228
Mus musculus	VANGL1	MGD	MGI:2159344
Macaca mulatta	VANGL1	VGNC	VGNC:78976
Rattus norvegicus	VANGL1	RGD	RGD:1597324
Felis catus	VANGL1	VGNC	VGNC:66915
Bos taurus	VANGL1	VGNC	VGNC:36761

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