TOR1B (torsin family 1 member B)

2014-11-01  

Identity

HGNC
LOCATION
9q34.11
LOCUSID
ALIAS
DQ1
FUSION GENES

Other Information

Locus ID:

NCBI: 27348
MIM: 608050
HGNC: 11995
Ensembl: ENSG00000136816

Variants:

dbSNP: 27348
ClinVar: 27348
TCGA: ENSG00000136816
COSMIC: TOR1B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136816ENST00000259339O14657
ENSG00000136816ENST00000427860H0Y7C8

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Cargo recognition for clathrin-mediated endocytosisREACTOMER-HSA-8856825

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
242756472014Arresting a Torsin ATPase reshapes the endoplasmic reticulum.22
171304242006Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia.15
206692762010Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.7
169382752006TorsinB expression in the developing human brain.3

Citation

Dessen P

TOR1B (torsin family 1 member B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75063/tor1b