SVIL (supervillin)

2013-06-01  

Identity

HGNC
SVIL
LOCATION
10p11.23
LOCUSID
6840
ALIAS
MFM10
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6840
MIM: 604126
HGNC: 11480
Ensembl: ENSG00000197321

Variants:

dbSNP: 6840
ClinVar: 6840
TCGA: ENSG00000197321
COSMIC: SVIL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197321ENST00000355867O95425
ENSG00000197321ENST00000375398O95425
ENSG00000197321ENST00000375400O95425
ENSG00000197321ENST00000632315A0A0J9YWY6

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
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
190471282008Single nucleotide polymorphisms of microRNA machinery genes modify the risk of renal cell carcinoma.99
256842062015A specific LSD1/KDM1A isoform regulates neuronal differentiation through H3K9 demethylation.77
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
191094202009Supervillin reorganizes the actin cytoskeleton and increases invadopodial efficiency.32
203315342010The membrane-associated protein, supervillin, accelerates F-actin-dependent rapid integrin recycling and cell motility.32
203099632010Novel interactors and a role for supervillin in early cytokinesis.26
117928402002Supervillin associates with androgen receptor and modulates its transcriptional activity.25
127116992003Archvillin, a muscle-specific isoform of supervillin, is an early expressed component of the costameric membrane skeleton.24
233823812013Supervillin-mediated suppression of p53 protein enhances cell survival.15

Citation

Dessen P

SVIL (supervillin)

Atlas Genet Cytogenet Oncol Haematol. 2013-06-01

Online version: http://atlasgeneticsoncology.org/gene/53334/svil