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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] See more...
Aliases for VANGL1 Gene
Aliases for VANGL1 Gene
External Ids for VANGL1 Gene
- HGNC: 15512
- NCBI Entrez Gene: 81839
- Ensembl: ENSG00000173218
- OMIM®: 610132
- UniProtKB/Swiss-Prot: Q8TAA9
Previous GeneCards Identifiers for VANGL1 Gene
- GC01P116607
- GC01P115067
- GC01P115332
- GC01P115531
- GC01P115896
- GC01P115986
- GC01P116184
- GC01P114043
Summaries for VANGL1 Gene
-
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]
GeneCards Summary for VANGL1 Gene
VANGL1 (VANGL Planar Cell Polarity Protein 1) is a Protein Coding gene. Diseases associated with VANGL1 include Sacral Defect With Anterior Meningocele and Neural Tube Defects. Among its related pathways are Wnt / Hedgehog / Notch and Wnt signaling pathway. An important paralog of this gene is VANGL2.
Additional gene information for VANGL1 Gene
- HGNC (15512)
- NCBI Entrez Gene (81839)
- Ensembl (ENSG00000173218)
- OMIM® (610132)
- UniProtKB/Swiss-Prot (Q8TAA9)
- Open Targets Platform(ENSG00000173218)
- Monarch Initiative
- Search for VANGL1 at DataMed
- Search for VANGL1 at HumanCyc
No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for VANGL1 Gene
Genomics for VANGL1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for VANGL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around VANGL1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VANGL1
- Top Transcription factor binding sites by QIAGEN in the VANGL1 gene promoter:
-
- AP-1
- c-Fos
- c-Jun
- Cdc5
- E4BP4
- FosB
- Fra-1
- JunB
- Pax-5
- POU3F2
Genomic Locations for VANGL1 Gene
Latest Assembly
- chr1:115,641,970-115,698,224
- (GRCh38/hg38)
- Size:
- 56,255 bases
- Orientation:
- Plus strand
Previous Assembly
- chr1:116,184,591-116,240,842
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 56,252 bases
- Orientation:
- Plus strand
- chr1:116,184,574-116,240,845
- (GRCh37/hg19 by Ensembl)
- Size:
- 56,272 bases
- Orientation:
- Plus strand
Genomic View for VANGL1 Gene
Genes around VANGL1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p13.1 by HGNC
- 1p13.1 by Entrez Gene
- 1p13.1 by Ensembl
VANGL1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for VANGL1 Gene
Proteins for VANGL1 Gene
-
Protein details for VANGL1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8TAA9-VANG1_HUMAN
- Recommended name:
- Vang-like protein 1
- Protein Accession:
- Q8TAA9
- Q5T1D3
- Q5T1D4
- Q86WG8
- Q8N559
Protein attributes for VANGL1 Gene
- Size:
- 524 amino acids
- Molecular mass:
- 59975 Da
- Quaternary structure:
-
- Heterodimer with VANGL2. Interacts through its C-terminal region with the N-terminal half of DVL1, DVL2 and DVL3. The PDZ domain of DVL1, DVL2 and DVL3 is required for the interaction (By similarity).
- SequenceCaution:
-
- Sequence=AAH32773.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for VANGL1 Gene
Post-translational modifications for VANGL1 Gene
Other Protein References for VANGL1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ VANGL1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for VANGL1
- Novus Biologicals Antibodies for VANGL1
-
Abcam antibodies for VANGL1
- Invitrogen Antibodies for VANGL1 (AFLGC-VANGL1)
-
Biorbyt antibodies for VANGL1
-
Santa Cruz Biotechnology (SCBT) Antibodies for VANGL1
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for VANGL1
- Origene Custom Protein Services for VANGL1
- antibodies-online: Show 8 available Vangl1 Proteins ranked by validation data
- Compare Top Vangl1 Proteins
-
Quality Products:
-
Abcam proteins for VANGL1
Assay products for research
- antibodies-online: Show 4 available Vangl1 Elisa Kits ranked by validation data
- Compare Top Vangl1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for VANGL1 Gene
Domains & Families for VANGL1 Gene
Gene Families for VANGL1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted membrane proteins
Suggested Antigen Peptide Sequences for VANGL1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA, FLJ92368 (Q96J52_HUMAN)
- Van Gogh-like protein 1 (VANG1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8TAA9- Family:
-
- Belongs to the Vang family.
Function for VANGL1 Gene
Phenotypes From GWAS Catalog for VANGL1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 15205336 |
Phenotypes for VANGL1 Gene
- MGI mutant phenotypes for VANGL1:
-
inferred from 3 alleles
- normal phenotype
- nervous system phenotype
- growth/size/body region phenotype
- cellular phenotype
- cardiovascular system phenotype
- respiratory system phenotype
- mortality/aging
- hematopoietic system phenotype
- reproductive system phenotype
- limbs/digits/tail phenotype
- hearing/vestibular/ear phenotype
- skeleton phenotype
- integument phenotype
- embryo phenotype
- pigmentation phenotype
- GenomeRNAi human phenotypes for VANGL1:
Animal Models for VANGL1 Gene
- MGI Knock Outs for VANGL1:
-
- Vangl1 Vangl1<tm1e(KOMP)Wtsi>
Animal Models for research
-
Taconic Biosciences Mouse Models for VANGL1
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for VANGL1 - Starting at $85 >
- * VANGL1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for VANGL1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for VANGL1
-
Santa Cruz Biotechnology (SCBT) CRISPR for VANGL1
miRNA for VANGL1 Gene
- miRTarBase miRNAs that target VANGL1
-
- hsa-miR-155-5p (MIRT020963)
- hsa-miR-124-3p (MIRT023046)
- hsa-miR-192-5p (MIRT026871)
- hsa-miR-98-5p (MIRT027805)
- hsa-miR-26b-5p (MIRT030158)
- hsa-miR-615-3p (MIRT040383)
- hsa-miR-324-5p (MIRT043138)
- hsa-miR-365a-3p (MIRT044026)
- hsa-miR-873-5p (MIRT058856)
- hsa-miR-940 (MIRT058857)
- hsa-miR-3654 (MIRT058858)
- hsa-miR-3714 (MIRT058859)
- hsa-miR-548an (MIRT058860)
- hsa-miR-6808-5p (MIRT058861)
- hsa-miR-6893-5p (MIRT058862)
- hsa-miR-20a-3p (MIRT058863)
- hsa-miR-524-5p (MIRT058865)
- hsa-miR-520d-5p (MIRT058866)
- hsa-miR-6892-5p (MIRT464293)
- hsa-miR-4455 (MIRT464294)
- hsa-miR-6747-5p (MIRT464295)
- hsa-miR-7110-5p (MIRT464296)
- hsa-miR-6842-5p (MIRT464297)
- hsa-miR-6752-5p (MIRT464298)
- hsa-miR-8064 (MIRT464299)
- hsa-miR-6732-5p (MIRT464300)
- hsa-miR-4789-3p (MIRT464301)
- hsa-miR-4475 (MIRT464302)
- hsa-miR-3936 (MIRT464303)
- hsa-miR-525-3p (MIRT500570)
- hsa-miR-524-3p (MIRT500571)
- hsa-miR-6071 (MIRT533269)
- hsa-miR-3941 (MIRT533270)
- hsa-miR-7160-5p (MIRT533271)
- hsa-miR-4663 (MIRT533272)
- hsa-miR-222-3p (MIRT533273)
- hsa-miR-221-3p (MIRT533274)
- hsa-miR-548v (MIRT533275)
- hsa-miR-187-5p (MIRT533276)
- hsa-miR-610 (MIRT533277)
- hsa-miR-3692-5p (MIRT533278)
- hsa-miR-93-3p (MIRT533279)
- hsa-miR-1228-3p (MIRT533280)
- hsa-miR-4686 (MIRT533281)
- hsa-miR-603 (MIRT533282)
- hsa-miR-362-3p (MIRT533283)
- hsa-miR-329-3p (MIRT533284)
- hsa-miR-8485 (MIRT533285)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for VANGL1
- Browse OriGene Inhibitory RNA Products For VANGL1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VANGL1
Clone products for research
- Applied Biological Materials (abm): Clones for VANGL1 - Starting at $45 >
- * VANGL1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG225510
- MG225512
- MR225510
- MR225510L3
- MR225510L4
- MR225512
- MR225512L3
- MR225512L4
- RC209024
- RC209024L1
- RC209024L2
- RC209024L3
- RC209024L4
- RC230221
- RC230221L3
- RC230221L4
- RC230228
- RC230228L3
- RC230228L4
- RG209024
- RG230221
- RG230228
- RR200958
- RR200958L3
- RR200958L4
- MR225510L3V
- MR225510L4V
- MR225512L3V
- MR225512L4V
- RC209024L1V
- RC209024L2V
- RC209024L3V
- RC209024L4V
- RC230221L3V
- RC230221L4V
- RC230228L3V
- RC230228L4V
- RR200958L3V
- RR200958L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for VANGL1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for VANGL1
Cell Lines for research
-
Horizon Cell Lines for VANGL1
No data available for Molecular function , Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for VANGL1 Gene
Localization for VANGL1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for VANGL1 Gene
- Cell membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytoskeleton | 3 |
| nucleus | 3 |
| extracellular | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | IBA | 21873635 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0016328 | lateral plasma membrane | IEA | -- |
Pathways & Interactions for VANGL1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Wnt / Hedgehog / Notch | ||
| 2 | Wnt signaling pathway | ||
Pathways by source for VANGL1 Gene
1 KEGG pathway for VANGL1 Gene
1 Cell Signaling Technology pathway for VANGL1 Gene
Interacting Proteins for VANGL1 Gene
Selected Interacting proteins:
Q8TAA9-VANG1_HUMAN
ENSP00000347672
for VANGL1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for VANGL1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007275 | multicellular organism development | IEA | -- |
| GO:0043473 | pigmentation | IEA | -- |
| GO:0060071 | Wnt signaling pathway, planar cell polarity pathway | NAS | 24431302 |
No data available for SIGNOR curated interactions for VANGL1 Gene
Transcripts for VANGL1 Gene
mRNA/cDNA for VANGL1 Gene
- 3 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000310260 2265 nts (view in UCSC)
- ENST00000355485 8671 nts (view in UCSC)
- ENST00000369509 2062 nts (view in UCSC)
- ENST00000369510 8647 nts (view in UCSC)
- ENST00000474344 461 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for VANGL1 - Starting at $85 >
- * VANGL1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for VANGL1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for VANGL1
-
Santa Cruz Biotechnology (SCBT) CRISPR for VANGL1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for VANGL1
- Browse OriGene Inhibitory RNA Products For VANGL1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VANGL1
Clone products for research
- Applied Biological Materials (abm): Clones for VANGL1 - Starting at $45 >
- * VANGL1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG225510
- MG225512
- MR225510
- MR225510L3
- MR225510L4
- MR225512
- MR225512L3
- MR225512L4
- RC209024
- RC209024L1
- RC209024L2
- RC209024L3
- RC209024L4
- RC230221
- RC230221L3
- RC230221L4
- RC230228
- RC230228L3
- RC230228L4
- RG209024
- RG230221
- RG230228
- RR200958
- RR200958L3
- RR200958L4
- MR225510L3V
- MR225510L4V
- MR225512L3V
- MR225512L4V
- RC209024L1V
- RC209024L2V
- RC209024L3V
- RC209024L4V
- RC230221L3V
- RC230221L4V
- RC230228L3V
- RC230228L4V
- RR200958L3V
- RR200958L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for VANGL1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for VANGL1
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||
| SP5: |
Relevant External Links for VANGL1 Gene
- GeneLoc Exon Structure for
- VANGL1
Expression for VANGL1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Proerythroblasts Hematopoietic Bone Marrow
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
- Thyroid (Endocrine System)
- Neural Tube (Nervous System)
- Intestine (Gastrointestinal Tract)
- Ovary (Reproductive System)
This gene is overexpressed in Lung (55.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for VANGL1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VANGL1
SOURCE GeneReport for Unigene cluster for VANGL1 Gene:
Hs.515130mRNA Expression by UniProt/SwissProt for VANGL1 Gene:
Q8TAA9-VANG1_HUMAN
Tissue specificity:
According to PubMed:11956595, ubiquitously expressed. According to PubMed:12011995, expressed specifically in testis and ovary.
Evidence on tissue expression from TISSUES for VANGL1 Gene
- Skin(4.4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for VANGL1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- ear
- eye
- head
- meninges
- neck
Thorax:
- aorta
- esophagus
- heart
- lung
- rib
- rib cage
- trachea
Abdomen:
- intestine
- kidney
- large intestine
- pancreas
- small intestine
- stomach
Pelvis:
- anus
- ovary
- pelvis
- penis
- placenta
- rectum
- ureter
- urethra
- urinary bladder
- uterus
- vagina
- vulva
Limb:
- ankle
- arm
- digit
- elbow
- finger
- foot
- forearm
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- blood
- blood vessel
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
- white blood cell
Primer products for research
-
OriGene qPCR primer pairs for VANGL1
-
OriGene qPCR primer pairs and template standards for VANGL1
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues for VANGL1 Gene
Orthologs for VANGL1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | VANGL1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | VANGL1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | VANGL1 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | VANGL1 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Vangl1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Vangl1 30 |
|
||
| Chicken (Gallus gallus) |
Aves | VANGL1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | VANGL1 31 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | vangl1 30 31 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012288 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Vang 30 31 32 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | vang-1 30 31 |
|
OneToMany | |
| B0410.2a 32 |
|
|
|||
| B0410.2b 32 |
|
|
|||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10649 31 |
|
OneToMany |
- Species where no ortholog for VANGL1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Platypus (Ornithorhynchus anatinus)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
Evolution for VANGL1 Gene
- ENSEMBL:
- Gene Tree for VANGL1 (if available)
- TreeFam:
- Gene Tree for VANGL1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for VANGL1: view image
Paralogs for VANGL1 Gene
Variants for VANGL1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VANGL1 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 873558 | Uncertain Significance: Neural tube defect; Caudal regression sequence | 115,663,909(+) |
G/A NM_138959.3(VANGL1):c.453G>A (p.Gly151=) |
SYNONYMOUS | |
| 873609 | Conflicting Interpretations: Neural tube defect; Caudal regression sequence | 115,682,419(+) |
T/C NM_138959.3(VANGL1):c.868T>C (p.Tyr290His) |
MISSENSE | |
| 873610 | Conflicting Interpretations: Neural tube defect; Caudal regression sequence | 115,684,020(+) |
C/T NM_138959.3(VANGL1):c.1023C>T (p.Asn341=) |
SYNONYMOUS | |
| 873611 | Conflicting Interpretations: Neural tube defect; Caudal regression sequence | 115,684,047(+) |
T/C NM_138959.3(VANGL1):c.1050T>C (p.His350=) |
SYNONYMOUS | |
| 873669 | Uncertain Significance: Neural tube defect; Caudal regression sequence | 115,691,608(+) |
T/A NM_138959.3(VANGL1):c.*229T>A |
THREE_PRIME_UTR |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv146n106 | CNV | deletion | 24896259 |
| dgv293n100 | CNV | loss | 25217958 |
| dgv517n54 | CNV | loss | 21841781 |
| dgv518n54 | CNV | loss | 21841781 |
| dgv519n54 | CNV | loss | 21841781 |
| dgv69n67 | CNV | loss | 20364138 |
| dgv84e212 | CNV | loss | 25503493 |
| esv2716596 | CNV | deletion | 23290073 |
| esv2760632 | CNV | gain | 21179565 |
| esv27976 | CNV | loss | 19812545 |
| esv2850124 | CNV | deletion | 24192839 |
| esv3539878 | CNV | deletion | 23714750 |
| esv3587290 | CNV | loss | 21293372 |
| esv7661 | CNV | loss | 19470904 |
| esv994532 | CNV | deletion | 20482838 |
| nsv1000760 | CNV | gain | 25217958 |
| nsv1077565 | CNV | deletion | 25765185 |
| nsv2509 | CNV | deletion | 18451855 |
| nsv524619 | CNV | gain | 19592680 |
| nsv547571 | CNV | loss | 21841781 |
| nsv547580 | CNV | gain+loss | 21841781 |
| nsv547585 | CNV | gain | 21841781 |
| nsv831115 | CNV | gain | 17160897 |
Residual Variation Intolerance Score:
17.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.14;
75.69% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for VANGL1 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VANGL1 Gene
Disorders for VANGL1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| sacral defect with anterior meningocele |
|
|
| neural tube defects |
|
|
| meningocele |
|
|
| upper thoracic spina bifida cystica |
|
|
| cervicothoracic spina bifida cystica |
|
|
Search VANGL1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
VANG1_HUMAN- Neural tube defects (NTD) [MIM:182940]: Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components. {ECO:0000269 PubMed:17409324, ECO:0000269 PubMed:19319979}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Sacral defect with anterior meningocele (SDAM) [MIM:600145]: 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. {ECO:0000269 PubMed:17409324}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for VANGL1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for VANGL1 Gene
Publications for VANGL1 Gene
- Molecular cloning and characterization of Strabismus 2 (STB2). (PMID: 11956595) Katoh M (International journal of oncology 2002) 2 3 4 23
- Novel mutations in VANGL1 in neural tube defects. (PMID: 19319979) Kibar Z … Gros P (Human mutation 2009) 3 4 41
- Mutations in VANGL1 associated with neural-tube defects. (PMID: 17409324) Kibar Z … Gros P (The New England journal of medicine 2007) 3 4 74
- Isolation and characterization of a novel human gene, VANGL1, as a therapeutic target for hepatocellular carcinoma. (PMID: 12011995) Yagyu R … Nakamura Y (International journal of oncology 2002) 2 3 4
- Independent mutations at Arg181 and Arg274 of Vangl proteins that are associated with neural tube defects in humans decrease protein stability and impair membrane targeting. (PMID: 25068569) Iliescu A … Gros P (Biochemistry 2014) 3 74
ExternalLinks
Products for VANGL1 Gene
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Sources for VANGL1 Gene
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