Identity
HGNC
LOCATION
13q14.11
LOCUSID
ALIAS
KIAA0564,P7BP2
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: 23078
MIM: 617509
HGNC: 29071
Ensembl: ENSG00000102763
Variants:
dbSNP: 23078
ClinVar: 23078
TCGA: ENSG00000102763
COSMIC: VWA8
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000102763 | ENST00000281496 | A3KMH1 |
| ENSG00000102763 | ENST00000379310 | A3KMH1 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37012052 | 2023 | Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation. | 2 |
| 37012052 | 2023 | Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation. | 2 |
| 32027355 | 2020 | A novel dynein-type AAA+ protein with peroxisomal targeting signal type 2. | 0 |
| 32027355 | 2020 | A novel dynein-type AAA+ protein with peroxisomal targeting signal type 2. | 0 |
| 30204880 | 2018 | A newly isolated Pex7-binding, atypical PTS2 protein P7BP2 is a novel dynein-type AAA+ protein. | 0 |
| 30204880 | 2018 | A newly isolated Pex7-binding, atypical PTS2 protein P7BP2 is a novel dynein-type AAA+ protein. | 0 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20528957 | 2010 | A genome-wide association study of bipolar disorder and comorbid migraine. | 21 |
| 20663923 | 2010 | A genome-wide scan for common alleles affecting risk for autism. | 288 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20528957 | 2010 | A genome-wide association study of bipolar disorder and comorbid migraine. | 21 |
| 20663923 | 2010 | A genome-wide scan for common alleles affecting risk for autism. | 288 |
Citation
Dessen P
VWA8 (von Willebrand factor A domain containing 8)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/75667/vwa8-(von-willebrand-factor-a-domain-containing-8)
