Identity
HGNC
LOCATION
10q25.3
LOCUSID
ALIAS
AMACO,CCSP-2,CCSP2,NET42
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 340706
MIM: 618281
HGNC: 24709
Ensembl: ENSG00000165816
Variants:
dbSNP: 340706
ClinVar: 340706
TCGA: ENSG00000165816
COSMIC: VWA2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000165816 | ENST00000392982 | Q5GFL6 |
| ENSG00000165816 | ENST00000603594 | Q5GFL6 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33023779 | 2021 | Contribution of homozygous and compound heterozygous missense mutations in VWA2 to Alzheimer's disease. | 3 |
| 33023779 | 2021 | Contribution of homozygous and compound heterozygous missense mutations in VWA2 to Alzheimer's disease. | 3 |
| 30038405 | 2018 | Epigenetic and transcriptional dysregulation of VWA2 associated with a MYC-driven oncogenic program in colorectal cancer. | 4 |
| 30038405 | 2018 | Epigenetic and transcriptional dysregulation of VWA2 associated with a MYC-driven oncogenic program in colorectal cancer. | 4 |
| 21385852 | 2011 | A novel calcium-binding site of von Willebrand factor A2 domain regulates its cleavage by ADAMTS13. | 29 |
| 21385852 | 2011 | A novel calcium-binding site of von Willebrand factor A2 domain regulates its cleavage by ADAMTS13. | 29 |
| 18434322 | 2008 | O-glucosylation and O-fucosylation occur together in close proximity on the first epidermal growth factor repeat of AMACO (VWA2 protein). | 9 |
| 18492952 | 2008 | Extensive contacts between ADAMTS13 exosites and von Willebrand factor domain A2 contribute to substrate specificity. | 56 |
| 18434322 | 2008 | O-glucosylation and O-fucosylation occur together in close proximity on the first epidermal growth factor repeat of AMACO (VWA2 protein). | 9 |
| 18492952 | 2008 | Extensive contacts between ADAMTS13 exosites and von Willebrand factor domain A2 contribute to substrate specificity. | 56 |
| 16385451 | 2006 | A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. | 83 |
| 16385451 | 2006 | A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. | 83 |
| 15580307 | 2005 | Colon cancer secreted protein-2 (CCSP-2), a novel candidate serological marker of colon neoplasia. | 7 |
| 15580307 | 2005 | Colon cancer secreted protein-2 (CCSP-2), a novel candidate serological marker of colon neoplasia. | 7 |
| 15699509 | 2004 | IDDM17: polymorphisms in the AMACO gene are associated with dominant protection against type 1A diabetes in a Bedouin Arab family. | 1 |
Citation
Dessen P
VWA2 (von Willebrand factor A domain containing 2)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/46548/vwa2
