VWA5A (von Willebrand factor A domain containing 5A)

2003-02-01  

Identity

HGNC
VWA5A
LOCATION
11q24.2
LOCUSID
4013
ALIAS
BCSC-1,BCSC1,LOH11CR2A
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4013
MIM: 602929
HGNC: 6658
Ensembl: ENSG00000110002

Variants:

dbSNP: 4013
ClinVar: 4013
TCGA: ENSG00000110002
COSMIC: VWA5A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110002ENST00000361352O00534
ENSG00000110002ENST00000392744B4DHS6
ENSG00000110002ENST00000392748O00534
ENSG00000110002ENST00000392748A0A024R3H3
ENSG00000110002ENST00000449321O00534
ENSG00000110002ENST00000456829O00534
ENSG00000110002ENST00000456829A0A024R3H3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
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
218030082011Frequent alterations of LOH11CR2A, PIG8 and CHEK1 genes at chromosomal 11q24.1-24.2 region in breast carcinoma: clinical and prognostic implications.8
196561572009Tumor suppressor function of BCSC-1 in nasopharyngeal carcinoma.6
225947922012Breast cancer suppressor candidate-1 (BCSC-1) is a melanoma tumor suppressor that down regulates MITF.6

Citation

Dessen P

VWA5A (von Willebrand factor A domain containing 5A)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41188/vwa5a