Aliases &
Descriptions
for VANGL1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| vang-like 1 (van gogh, Drosophila)1 2 | | vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)1 | | STB21 2 3 | | vang-like protein 12 | | Van Gogh-like protein 12 3 | | KAI1 C-terminal interacting tetraspanin2 | | Loop-tail protein 2 homolog2 3 | | OTTHUMP000000137512 | | Strabismus 22 3 | | MGC53382 | | LPP22 3 | | OTTHUMP000000137522 | | STBM22 5 | | KITENIN2 |
Export aliases for VANGL1 gene to outside databasesPrevious GC identifers: GC01P116607 GC01P115067 GC01P115332 GC01P115531 GC01P115896 GC01P115986 GC01P116184 |
Summaries
for VANGL1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
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 intestinaltrefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tubedefects. Alternate splicing results in multiple transcript variants. (provided by RefSeq)
|
Genomic Views
for 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 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the VANGL1 gene promoter:
POU3F2 POU3F2 (N-Oct-5a) POU3F2 (N-Oct-5b) Cart-1 Chx10 FOXC1 FOXO3a FOXO3b IRF-1 FOXD3
Other transcription factors
Search SABiosciences Chromatin IP Primers for VANGL1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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: 1p13.1VANGL1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P114043: view genomic region
(about GC identifiers)
Start:
|
114,043,513 bp from pter |
End:
|
114,098,933 bp from pter |
Size:
|
55,421 bases |
Orientation:
|
plus strand |
1 alternative location:
| Chr1+ 116,184,574-116,240,845 |
RefSeq DNA sequence:- NC_000001.10 NT_032977.9
|
Proteins
for VANGL1 gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
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 Explore the universe of human proteins at neXtProt for VANGL1: NX_Q8TAA9
Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins (3 alternative transcripts):
NP_001165882.1 NP_001165883.1 NP_620409.1
ENSEMBL proteins: ENSP00000358523 ENSP00000310800 ENSP00000358522 ENSP00000347672
Human Recombinant Proteins
2 Gene Ontology (GO) cellular component terms (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016020 | membrane |
IEA | -- | | GO:0016021 | integral to membrane |
IEA | -- |
About this table
VANGL1 for ontologies About GeneDecksing
Antibodies for VANGL1:
Assays for VANGL1: |
Protein
Domains/
Families
for 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 Q8TAA9ProtoNet protein and cluster: Q8TAA9 1 Blocks protein family: IPB009539 Strabismus
UniProtKB/Swiss-Prot: VANG1_HUMAN, Q8TAA9Similarity: Belongs to the Vang family |
Gene Function
for VANGL1 gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
1 Gene Ontology (GO) molecular function term (GO ID links to tree view): About this table
VANGL1 for ontologies About GeneDecksing
Animal Models: 9 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Vangl1):
VANGL1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for VANGL1 gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
VANGL1 for pathways About GeneDecksing
1  Kegg Pathway (Kegg details for VANGL1):
SABiosciences Custom Pathway-Focused PCR Arrays for VANGL1
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for VANGL1
5/7 Interacting proteins for VANGL1 (Q8TAA91 ENSP000003585223) via UniProtKB, MINT, and/or STRING (see all 7)About this table
1 Gene Ontology (GO) biological process term (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0007275 | multicellular organismal development |
IEA | -- |
About this table
VANGL1 for ontologies About GeneDecksing
|
Drugs & Compounds
for VANGL1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
 Browse Tocris compounds for VANGL1
|
Transcripts
for VANGL1 gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for VANGL1 gene (3 alternative transcripts): NM_001172411.1 NM_001172412.1 NM_138959.2 Additional cDNA sequence: AB057596.1 AB075805.1 AF481859.1 AK312087.1 BC000907.2 BC032773.1 BC065272.1 BC082967.1 CR609810.1 7 DOTS entries: DT.97839634 DT.100022452 DT.91816078 DT.86846279 DT.121455401 DT.410385 DT.109448 24/140 AceView cDNA sequences (see all 140): AI026622 AI802003 AA463627 AA312696 AW674666 AW675002 AW294459 AI468303 BF968983 AF481859 AI159934 AI681740 AI685010 BU161285 AA470465 AB075805 BU617790 AW452302 NM_138959 CR609810 AI805666 BF726413 CA419348 BQ576155
 highest scoring ESTs for VANGL1:AA311661 AA603110 H27345 AA311917 AA336623 AA336635 AA336636 AA347877 AA463627 AA789332 Unigene Cluster for VANGL1: Vang-like 1 (van gogh, Drosophila) Hs.515130 [show with all ESTs]Unigene Representative Sequence: NM_138959
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for VANGL1
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 |
|---|
|
| SP1: | | | | | - | | | | | | | | | | - | | - | | | | | | | | | | |
| SP2: | | | | | - | | | | | | | | | | - | | - | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | - | | - | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | |
About this scheme
ECgene alternative splicing isoforms for VANGL1
6 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000369510 ENST00000310260 ENST00000369509 ENST00000478369 ENST00000474344
ENST00000355485(uc001efw.1 uc001efv.1 uc009wgy.1)
|
Expression
for VANGL1 gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| VANGL1 expression in normal and diseased human tissues
1 / 2 / 3 14 probe-sets matching VANGL1 gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 50855_at2, 3
|
U95-B |
1 |
0.94 |
1.00 |
0.77 |
0.56 |
AA789332 |
0.80 |
1.00 |
0.91 |
1 |
| 56095_at2, 3
|
U95-B |
1 |
0.94 |
1.00 |
0.82 |
0.94 |
AA603110 |
1.00 |
1.00 |
1.00 |
1 |
| 76954_at2, 3
|
U95-E |
1 |
0.81 |
1.00 |
0.92 |
0.90 |
R85437 |
0.40 |
1.00 |
0.76 |
1 |
| 46136_at2, 3
|
U95-B |
1 |
0.75 |
1.00 |
0.74 |
1.11 |
W68637 |
0.60 |
1.00 |
0.82 |
1 |
| 80950_r_at2, 3
|
U95-E |
1 |
0.69 |
1.00 |
0.92 |
1.01 |
H27345 |
1.00 |
1.00 |
1.00 |
1 |
| 80582_at2, 3
|
U95-D |
1 |
0.62 |
1.00 |
-0.02 |
1.53 |
AA311661 |
1.00 |
1.00 |
1.00 |
1 |
| 229492_at2, 3
|
U133-B |
1 |
0.82 |
1.00 |
-- |
-- |
R85437 |
0.40 |
1.00 |
0.76 |
1 |
| 219330_at2, 3
|
U133-A |
1 |
0.82 |
1.00 |
-- |
-- |
NM_024062 |
0.20 |
1.00 |
0.72 |
1 |
| 229134_at2, 3
|
U133-B |
1 |
0.73 |
1.00 |
-- |
-- |
BF509230 |
0.40 |
1.00 |
0.76 |
1 |
| 229997_at2, 3
|
U133-B |
1 |
0.55 |
1.00 |
-- |
-- |
AA789332 |
0.80 |
1.00 |
0.91 |
1 |
| 229492_at2
|
U133Plus2 |
1 |
0.82 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 219330_at2
|
U133Plus2 |
1 |
0.82 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 229134_at2
|
U133Plus2 |
1 |
0.73 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 229997_at2
|
U133Plus2 |
1 |
0.55 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
VANGL1 for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: ACCCCCAAGG
SOURCE GeneReport for Unigene cluster: Hs.515130
UniProtKB/Swiss-Prot: VANG1_HUMAN, Q8TAA9Tissue specificity: Accordiing to PubMed:11956595, ubiquitously expressed. According to PubMed:12011995, expressedspecifically in testis and ovary
SABiosciences Custom PCR Arrays for VANGL1
|
Orthologs
for VANGL1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for VANGL1 gene from 5/10 species (see all 10)
About this table Species with no ortholog for VANGL1
ENSEMBL Gene Tree for VANGL1 (if available) |
Paralogs
for VANGL1 gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for VANGL1 gene
- VANGL22
VANGL1 for paralogs About GeneDecksing
|
Genomic Variants
for VANGL1 gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 1 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for VANGL1 (up to first 250kb)
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 | | QIAGEN SeqTarget long-range PCR primers for resequencing VANGL1 |
|
Disorders & Mutations
for VANGL1 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
VANGL1 for disorders About GeneDecksing
OMIM: 610132 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. Themost 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 opendysraphisms (including myeloschisis, hemimyelomeningocele, and hemimyelocele) are sometimes associated with a Chiaritype 2 malformation. A number of skin-covered (closed) NTD are categorized clinically depending on the presence of asubcutaneous mass (lipomyeloschisis, lipomyelomeningocele, meningocele, and myelocystocele) or the absence of such amass (complex dysraphic states, including split cord malformations, dermal sinus, caudal regression, and segmentalspinal dysgenesis) Defects in VANGL1 are a cause of sacral defect with anterior meningocele (SDAM) [MIM:600145]. SDAM is a formof caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructivelabor in females, chronic constipation, or meningitis. Inheritance is autosomal dominantHuman Gene Mutation Database (HGMD): VANGL1
Human Genome Epidemiology (HuGE) Navigator: VANGL1 (1 document)
Export disorders and mutations for VANGL1 gene to outside databases
|
Medical News
for VANGL1 gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for VANGL1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
10/17 PubMed articles for VANGL1 gene, integrated from 7 sources (see all 17):
(articles sorted by number of sources associating them with VANGL1)- Molecular cloning and characterization of Strabismus 2 (STB2). (PubMed id 11956595)1, 2, 3, 7 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)
- Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (2010)
- KITENIN is associated with tumor progression in human gastric cancer. (PubMed id 20944126)1 Ryu H.S....Joo Y.E. (2010)
- KITENIN increases invasion and migration of mouse squamous cancer cells and promotes pulmonary metastasis in a mouse squamous tumor model. (PubMed id 19166844)1 Lee J.K....Kim K.K. (2009)
- Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)2 Daub H.... Mann M. (2008)
|
External Searches for VANGL1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing VANGL1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing VANGL1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing VANGL1 gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
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
|
Products
for VANGL1 gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
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| |  | Search Tocris compounds for VANGL1 |
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