TOR1AIP2 (torsin 1A interacting protein 2)

2014-11-01  

Identity

HGNC
TOR1AIP2
LOCATION
1q25.2
LOCUSID
163590
ALIAS
IFRG15,LULL1,NET9
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 163590
MIM: 614513
HGNC: 24055
Ensembl: ENSG00000169905

Variants:

dbSNP: 163590
ClinVar: 163590
TCGA: ENSG00000169905
COSMIC: TOR1AIP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169905ENST00000367612Q8NFQ8
ENSG00000169905ENST00000367612A0A024R957
ENSG00000169905ENST00000482587Q9H496
ENSG00000169905ENST00000495650A0A096LNM1
ENSG00000169905ENST00000609928Q8NFQ8
ENSG00000169905ENST00000609928A0A024R957

Expression (GTEx)

0
5
10
15
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
N/A

References

Pubmed IDYearTitleCitations
157674592005The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein.90
193392782009LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation.56
235692232013Regulation of Torsin ATPases by LAP1 and LULL1.54
253526672014The mechanism of Torsin ATPase activation.30
260412882015The Torsin Activator LULL1 Is Required for Efficient Growth of Herpes Simplex Virus 1.22
274904832016Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia.17

Citation

Dessen P

TOR1AIP2 (torsin 1A interacting protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75062/tor1aip2