VWA2 (von Willebrand factor A domain containing 2)

2007-02-01  

Identity

HGNC
VWA2
LOCATION
10q25.3
LOCUSID
340706
ALIAS
AMACO,CCSP-2,CCSP2,NET42
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 340706
MIM: 618281
HGNC: 24709
Ensembl: ENSG00000165816

Variants:

dbSNP: 340706
ClinVar: 340706
TCGA: ENSG00000165816
COSMIC: VWA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165816ENST00000392982Q5GFL6
ENSG00000165816ENST00000603594Q5GFL6

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
184929522008Extensive contacts between ADAMTS13 exosites and von Willebrand factor domain A2 contribute to substrate specificity.48
213858522011A novel calcium-binding site of von Willebrand factor A2 domain regulates its cleavage by ADAMTS13.21
184343222008O-glucosylation and O-fucosylation occur together in close proximity on the first epidermal growth factor repeat of AMACO (VWA2 protein).7
156995092004IDDM17: polymorphisms in the AMACO gene are associated with dominant protection against type 1A diabetes in a Bedouin Arab family.1
300384052018Epigenetic and transcriptional dysregulation of VWA2 associated with a MYC-driven oncogenic program in colorectal cancer.1
145062752003Identification and characterization of AMACO, a new member of the von Willebrand factor A-like domain protein superfamily with a regulated expression in the kidney.0
155803072005Colon cancer secreted protein-2 (CCSP-2), a novel candidate serological marker of colon neoplasia.0

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