VWA8 (von Willebrand factor A domain containing 8)

2014-11-01  

Identity

HGNC
VWA8
LOCATION
13q14.11
LOCUSID
23078
ALIAS
KIAA0564,P7BP2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23078
MIM: 617509
HGNC: 29071
Ensembl: ENSG00000102763

Variants:

dbSNP: 23078
ClinVar: 23078
TCGA: ENSG00000102763
COSMIC: VWA8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102763ENST00000281496A3KMH1
ENSG00000102763ENST00000379310A3KMH1

Expression (GTEx)

0
5
10
15
20
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
370120522023Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation.2
370120522023Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation.2
320273552020A novel dynein-type AAA+ protein with peroxisomal targeting signal type 2.0
320273552020A novel dynein-type AAA+ protein with peroxisomal targeting signal type 2.0
302048802018A newly isolated Pex7-binding, atypical PTS2 protein P7BP2 is a novel dynein-type AAA+ protein.0
302048802018A newly isolated Pex7-binding, atypical PTS2 protein P7BP2 is a novel dynein-type AAA+ protein.0
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
205289572010A genome-wide association study of bipolar disorder and comorbid migraine.21
206639232010A genome-wide scan for common alleles affecting risk for autism.288
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
205289572010A genome-wide association study of bipolar disorder and comorbid migraine.21
206639232010A 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/favicon/js/hgnc