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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]
VANGL1 (VANGL Planar Cell Polarity Protein 1) is a Protein Coding gene. Diseases associated with VANGL1 include Neural Tube Defects and Sacral Defect With Anterior Meningocele. Among its related pathways are Wnt signaling pathway and Wnt / Hedgehog / Notch. An important paralog of this gene is VANGL2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 15205336 |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Wnt / Hedgehog / Notch | ||
2 | Wnt signaling pathway |
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 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||
SP5: |
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 |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708510 | Likely Benign: not provided | 115,664,230(+) | C/T | SYNONYMOUS_VARIANT | |
720994 | Benign/Likely Benign: Neural tube defect; Caudal regression sequence; not provided | 115,663,801(+) | C/T | SYNONYMOUS_VARIANT | |
722035 | Likely Benign: not provided | 115,664,096(+) | C/T | MISSENSE_VARIANT | |
722253 | Likely Benign: not provided | 115,664,170(+) | C/T | SYNONYMOUS_VARIANT | |
722311 | Likely Benign: not provided | 115,663,762(+) | C/T | SYNONYMOUS_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
neural tube defects |
|
|
sacral defect with anterior meningocele |
|
|
meningocele |
|
|
upper thoracic spina bifida cystica |
|
|
cervicothoracic spina bifida cystica |
|
|