VANGL1 Gene
protein-coding GIFtS : 59
GCID: GC01 P116184
vang-like 1 (van gogh, Drosophila) (Previous names: vang (van gogh, Drosophila)-like 1, vang, van gogh-like... )
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Aliasesfor VANGL1 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Vang-Like 1 (Van Gogh, Drosophila) 1 2 STBM22 5 STB21 2 3 Vang (Van Gogh, Drosophila)-Like 1, Vang, Van Gogh-Like 1 (Drosophila)1 Loop-Tail Protein 2 Homolog2 3 KITENIN2 Strabismus 22 3 KAI1 C-Terminal Interacting Tetraspanin2 Van Gogh-Like Protein 12 3 Vang-Like Protein 12 LPP22 3
Export aliases for VANGL1 gene to outside databases Previous GC identifers: GC01P116607 GC01P115067 GC01P115332 GC01P115531 GC01P115896 GC01P115986 GC01P114043
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Summariesfor VANGL1 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for VANGL1 : 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)
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Genomic Viewsfor VANGL1 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000001.10 NC_018912.1 NT_032977.9 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the VANGL1 gene promoter: c-Fos AP-1 Pax-5 JunB Fra-1 FosB POU3F2 E4BP4 Cdc5 c-Jun Other transcription factors Search SABiosciences Chromatin IP Primers for VANGL1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat VANGL1
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 1p13.1 Ensembl cytogenetic band: 1p13.1 HGNC cytogenetic band: 1p13.1 VANGL1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 1 GeneLoc Exon Structure
GeneLoc location for GC01P116184: view genomic region
(about GC identifiers )
Start:
116,184,574 bp from pter
End:
116,240,845 bp from pter
Size:
56,272 bases
Orientation:
plus strand
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Proteinsfor VANGL1 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: VANG1_HUMAN, Q8TAA9 (See
protein sequence )Recommended Name: Vang-like protein 1 Size : 524 amino acids; 59975 Da
Subunit : Interacts through its C-terminal region with the N-terminal half of DVL1, DVL2 and DVL3. The PDZ domain ofDVL1, DVL2 and DVL3 is required for the interaction (By similarity)
Subcellular location : Membrane; Multi-pass membrane protein (Potential)
Sequence caution : Sequence=AAH32773.1; Type=Erroneous initiation;
Secondary accessions : Q5T1D3 Q5T1D4 Q86WG8 Q8N559Alternative splicing : 2 isoforms : Q8TAA9-1 Q8TAA9-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for VANGL1: NX_Q8TAA9 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q8TAA9 VANGL1 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins (3 alternative transcripts):
NP_001165882.1 NP_001165883.1 NP_620409.1 ENSEMBL proteins: ENSP00000358523 ENSP00000310800 ENSP00000358522 ENSP00000347672 Human Recombinant Protein Products: Gene Ontology (GO): 1 cellular component term (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0016021 integral to membrane
IEA --
VANGL1 for ontologies About GeneDecksing VANGL1 Antibody Products: Assay Products for VANGL1:
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Protein
Domains / Familiesfor VANGL1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
VANGL1 for domains About GeneDecksing 1 InterPro domain/family :
Graphical View of Domain Structure for InterPro Entry Q8TAA9 ProtoNet protein and cluster: Q8TAA9
1 Blocks protein family : IPB009539 Strabismus UniProtKB/Swiss-Prot: VANG1_HUMAN, Q8TAA9 Similarity : Belongs to the Vang family
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Functionfor VANGL1 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for VANGL1 (see all 6 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for VANGL1 (see all 4 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 3 ): VANGL1 (NM_001172412 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for VANGL1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat VANGL1
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VANGL1
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view) : About this table
VANGL1 for ontologies About GeneDecksing 2 GenomeRNAi human phenotypes for VANGL1 :Animal Models: 10 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Vangl1) :
VANGL1 for phenotypes About GeneDecksing
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Pathways & Interactionsfor VANGL1 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways   About this table See pathways by source Super-pathway contained gene-specific pathways 1 Wnt Signaling Pathway
Pathway sources See GeneCards unified pathways Show all pathways 1
Kegg Pathway (Kegg details for VANGL1) :
VANGL1 for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for VANGL1 STRING Interaction
Network Preview (showing 5 interactants - click image to see 19)5/24 Interacting proteins for VANGL1 (Q8TAA9 1 , 3 ENSP00000310800 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 24 )About this table Gene Ontology (GO): 1 biological process term (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0007275 multicellular organismal development
IEA --
VANGL1 for ontologies About GeneDecksing
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Drugs & Compoundsfor VANGL1 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section Browse Tocris compounds for VANGL1 Search CenterWatch for drugs/clinical trials and news about VANGL1 / VANG1
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Transcriptsfor VANGL1 gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for VANGL1 gene (3 alternative transcripts): NM_001172411.1 NM_001172412.1 NM_138959.2 Unigene Cluster for VANGL1:
Vang-like 1 (van gogh, Drosophila) Hs.515130 [show with all ESTs ] Unigene Representative Sequence: NM_138959 6 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000369510 ENST00000310260 ENST00000369509 ENST00000478369 ENST00000474344 ENST00000355485 (uc009wgy.1 uc001efv.1 uc021ose.1 ) Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for VANGL1 (see all 6 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for VANGL1 (see all 4 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 3 ): VANGL1 (NM_001172412 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for VANGL1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat VANGL1
Additional cDNA sequence: AB057596.1 AB075805.1 AF481859.1 AK312087.1 BC000907.2 BC032773.1 BC065272.1 BC082967.1
7 DOTS entries : DT.97839634 DT.100022452
DT.91816078 DT.121455401 DT.410385 DT.109448 DT.86846279 24/140 AceView cDNA sequences (see all 140 ):
BF515852 BC065272 AI468303 AA470465 AA312696 AW674666 AW675002 BU161285 AI685010 AI805666 BQ576155 AF481859 AI681740 BC000907 AI874246 BQ687241 NM_138959 AA911207 AW452302 AA682679 AA463627 AA989033 CR609810 BE670545 GeneLoc Exon Structure 5 Alternative Splicing Database (ASD) splice patterns (SP) for VANGL1 About this scheme ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 SP1 :     -           -   -           SP2 :     -           -   -           SP3 :               -   -           SP4 :                           SP5 :                          
ECgene alternative splicing isoforms for VANGL1
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Expression for VANGL1 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section VANGL1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: ACCCCCAAGG
About this image VANGL1 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table Stem Cell Differentiation: 1 LifeMap Cell Name Category Definitive endoderm-like cells (A scalable, suspensi... )Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
See VANGL1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for VANGL1 SOURCE GeneReport for Unigene cluster: Hs.515130 UniProtKB/Swiss-Prot: VANG1_HUMAN, Q8TAA9 Tissue specificity : According to PubMed:11956595, ubiquitously expressed. According to PubMed:12011995, expressedspecifically in testis and ovary SABiosciences Custom PCR Arrays for VANGL1 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for VANGL1Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse / rat VANGL1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat VANGL1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat VANGL1 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VANGL1
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Orthologsfor VANGL1 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for VANGL1 gene from 5/20 species (see all 20 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
VANGL11
vang-like 1 (van gogh, Drosophila)
80.59(n) 88.51(a)
 
418337 XM_001232440.2 XP_001232441.2
lizard (Anolis carolinensis)
Reptilia
VANGL16
--
81(a)
1 ↔ 1
2(82768703-82822065)
zebrafish (Danio rerio)
Actinopterygii
AY279079.12
--
75.07(n)
 
AY279079.1
fruit fly (Drosophila melanogaster)
Insecta
Vang1 , 3
establishment and/or maintenance of cell polarity3 Van Gogh1
47(a) 3 54.03(n) 1 49.1(a) 1
 
35922 1 NM_057829.3 1 NP_477177.1 1
worm (Caenorhabditis elegans)
Secernentea
B0410.2a3 vang-11
Protein VANG-11
34(a) (best of 2)3 46.26(n) 1 36.65(a) 1
 
X(2921174-2925603)3 180579 1 NM_076099.2 1 NP_508500.1 1
ENSEMBL Gene Tree for VANGL1 (if available)TreeFam Gene Tree for VANGL1 (if available)
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Paralogsfor VANGL1 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for VANGL1 gene VANGL2 2 1 SIMAP similar gene for VANGL1 using alignment to 2 protein entries: VANG1_HUMAN (see all proteins ):VANGL2
VANGL1 for paralogs About GeneDecksing
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Genomic Variantsfor VANGL1 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 1 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for VANGL1 (116184574 - 116240845 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 7 variations for VANGL1 7 CNVs : 84483 74651 74650 64669 60873 2322 3306 Human Gene Mutation Database (HGMD) : VANGL1 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing VANGL1
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Disorders
/ Diseasesfor VANGL1 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
VANGL1 for disorders About GeneDecksing OMIM gene information: 610132 OMIM disorders : 600145 182940 UniProtKB/Swiss-Prot: VANG1_HUMAN, Q8TAA9
Defects in VANGL1 are a cause of neural tube defects (NTD) [MIM:182940]. NTD are congenital malformations. The most common forms of NTD are described as open defects (including anencephaly and myelomeningocele, or spina bifida), which result from the failure of fusion in the cranial and spinal region of the neural tube, respectively. Other open dysraphisms (including myeloschisis, hemimyelomeningocele, and hemimyelocele) are sometimes associated with a Chiari type 2 malformation. A number of skin-covered (closed) NTD are categorized clinically depending on the presence of a subcutaneous mass (lipomyeloschisis, lipomyelomeningocele, meningocele, and myelocystocele) or the absence of such a mass (complex dysraphic states, including split cord malformations, dermal sinus, caudal regression, and segmental spinal dysgenesis) Defects in VANGL1 are a cause of sacral defect with anterior meningocele (SDAM) [MIM:600145]. SDAM is a form of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant 17 diseases for VANGL1 : About MalaCards neural tube defect sacral defect with anterior meningocele strabismus caudal regression syndrome meningocele lipomyelomeningocele spina bifida myelomeningocele anencephaly hyperopia constipation meningitis hepatocellular carcinoma gastric cancer colorectal cancer carcinoma strabismus 1 2 diseases from the University of Copenhagen DISEASES database for VANGL1 :Hyperopia Spina bifida Human Genome Epidemiology (HuGE) Navigator: VANGL1 (2 documents) Export disorders for VANGL1 gene to outside databases
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Publicationsfor VANGL1 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for VANGL1 gene, integrated from 9 sources (see all 28 ): (articles sorted by number of sources associating them with VANGL1) Utopia : connect your pdf to the dynamic world of online information
Molecular cloning and characterization of Strabismus 2 (STB2). (PubMed id 11956595) 1 , 2 , 3, 9 Katoh M. (2002) Isolation and characterization of a novel human gene, VANGL1, as a therapeutic target for hepatocellular carcinoma. (PubMed id 12011995) 1 , 2 , 3 Yagyu R....Nakamura Y. (2002) Novel mutations in VANGL1 in neural tube defects. (PubMed id 19319979) 1 , 2 Kibar Z.... Gros P. (2009) Mutations in VANGL1 associated with neural-tube defects. (PubMed id 17409324) 1 , 2 Kibar Z.... Gros P. (2007) Analysis of the planar cell polarity gene Vangl2 and its co-expressed paralogue Vangl1 in neural tube defect patients. (PubMed id 15952208) 1 , 2 Doudney K.... Stanier P. (2005) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 1 , 2 Gerhard D.S....Malek J. (2004) Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724) 1 Udeshi N.D....Carr S.A. (2012) A protein complex of SCRIB, NOS1AP and VANGL1 regulate s cell polarity and migration, and is associated with breast cancer progression. (PubMed id 22179838) 1 Anastas J.N....Moon R.T. (2012) Transmembrane topology of mammalian planar cell polar ity protein Vangl1. (PubMed id 21291170) 1 Iliescu A....Gros P. (2011) A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473) 1 Wagner S.A....Choudhary C. (2011)
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
External Searches for VANGL1 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Genome Databases showing VANGL1 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Other Databases showing VANGL1 gene
(According to HUGE )
About This Section --
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Specialized Databases showing VANGL1 gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description
PharmGKB entry for VANGL1 Pharmacogenomics, SNPs, Pathways
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
About This Section Patent Information for VANGL1 gene: Search GeneIP for patents involving VANGL1 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Productsfor VANGL1 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
Browse OriGene Antibodies OriGene shRNA RFP for VANGL1 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for VANGL1 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for VANGL1 OriGene Protein Over-expression Lysate for VANGL1 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for VANGL1 OriGene 3'-UTR Clone for VANGL1 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for VANGL1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for VANGL1 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs OriGene Purified Protein for VANGL1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for VANGL1 OriGene Custom Protein Services for VANGL1 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat VANGL1 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing VANGL1 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat VANGL1 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat VANGL1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat VANGL1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat VANGL1
Search Tocris compounds for VANGL1
VANGL1 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VANGL1
ThermoFisher Antibodies for VANGL1
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat VANGL1
Jump to Section...
Aliases for VANGL1
Databases for VANGL1
Disorders / Diseases for VANGL1
Domains / Families for VANGL1
Drugs / Compounds for VANGL1
Expression for VANGL1
Function for VANGL1
Genomic Views for VANGL1
Intellectual Property for VANGL1
Orthologs for VANGL1
Paralogs for VANGL1
Pathways / Interactions for VANGL1
Products for VANGL1
Proteins for VANGL1
Publications for VANGL1
Search Box for VANGL1
Summaries for VANGL1
Transcripts for VANGL1
Variants for VANGL1
TOP
BOTTOM