TOR2A (torsin family 2 member A)

2013-06-01  

Identity

HGNC
TOR2A
LOCATION
9q34.11
LOCUSID
27433
ALIAS
TORP1

Other Information

Locus ID:

NCBI: 27433
MIM: 608052
HGNC: 11996
Ensembl: ENSG00000160404

Variants:

dbSNP: 27433
ClinVar: 27433
TCGA: ENSG00000160404
COSMIC: TOR2A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160404ENST00000336067Q8N2E6
ENSG00000160404ENST00000373281Q5JU69
ENSG00000160404ENST00000373284Q5JU69
ENSG00000160404ENST00000463256Q5JU69
ENSG00000160404ENST00000463577Q5JU69
ENSG00000160404ENST00000493439Q5JU69
ENSG00000160404ENST00000496460Q5JU69

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
129102632003Salusins: newly identified bioactive peptides with hemodynamic and mitogenic activities.33
206848262010Chronic infusion of salusin-alpha and -beta exerts opposite effects on atherosclerotic lesion development in apolipoprotein E-deficient mice.20
240985532013Circulating levels of human salusin-β, a potent hemodynamic and atherogenesis regulator.13
184974652008Serum salusin-alpha levels are decreased and correlated negatively with carotid atherosclerosis in essential hypertensive patients.10
246215172014Salusin-β not salusin-α promotes vascular inflammation in ApoE-deficient mice via the I-κBα/NF-κB pathway.9
270048482016Salusin-β induces foam cell formation and monocyte adhesion in human vascular smooth muscle cells via miR155/NOX2/NFκB pathway.9
197618142009Mutant torsinA interacts with tyrosine hydroxylase in cultured cells.8
228849202012The bioactive peptides salusins and apelin-36 are produced in human arterial and venous tissues and the changes of their levels during cardiopulmonary bypass.6
236112552013Serum salusin-α levels are inversely correlated with the presence and severity of coronary artery disease.6
252107302014Salusin-β, but not salusin-α, promotes human umbilical vein endothelial cell inflammation via the p38 MAPK/JNK-NF-κB pathway.6

Citation

Dessen P

TOR2A (torsin family 2 member A)

Atlas Genet Cytogenet Oncol Haematol. 2013-06-01

Online version: http://atlasgeneticsoncology.org/gene/53373/tor2a