Basic information
- Full name
- torsin 1A interacting protein 2
- Ensembl
- ENSG00000169905.12
- Summary
- One of the two protein isoforms encoded by this gene is a type II integral membrane protein found in the endoplasmic reticulum (ER). The encoded protein is a cofactor for the ATPase TorsinA, regulating the amount of TorsinA present in the ER compared to that found in the nuclear envelope. Defects in this protein are a cause of early onset primary dystonia, a neuromuscular disease. The other isoform encoded by this gene is an interferon alpha responsive protein whose cellular role has yet to be determined. [provided by RefSeq, Mar 2017]
Protein product
- ENST00000367612.7 Primary ENSP00000356584.3 (13 phosphosites)
- ENST00000609928.5
- ENST00000482587.5 Secondary (UniProt) ENSP00000485355.1 (0 phosphosite)
Phosphosites on the primary protein product
Tumor and normal comparison
Signed p-values | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Data type | Meta P | BRCA | CCRCC | COAD | GBM | HNSCC | LSCC | LUAD | OV | PDAC | UCEC |
RNA | 2.2e-11 | - | 0.011 | - | - | 0.083 | -0.13 | 2.8e-15 | - | 1.8e-5 | - |
protein | 0.08 | - | 0.33 | -0.76 | - | 1.4e-11 | -0.17 | 1.1e-12 | -0.14 | -1.5e-6 | -0.051 |
mRNA expression at gene level
Protein expression
Phenotype and mutation association
Manhattan plot summarizing associations of phenotypes and mutations across all cohorts and omics data types
Associations of the protein abundance of TOR1AIP2 with phenotypes and mutations
Signed p-values | ||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Phenotype | Meta P | BRCA | CCRCC | COAD | GBM | HNSCC | LSCC | LUAD | OV | PDAC | UCEC | |
PROGENy: VEGF | 1.3e-5 | -0.3 | -0.69 | 0.039 | 0.57 | 0.012 | 0.62 | 3e-7 | 0.7 | 0.04 | 0.041 | |
PROGENy: JAK-STAT | 9.0e-5 | 0.17 | 0.013 | 0.82 | -0.28 | 0.73 | 0.004 | 8.6e-3 | 0.044 | 0.25 | 0.72 | |
SBS15 (defective DNA mismatch repair) | 2.4e-4 | 0.034 | - | 0.037 | - | 5.4e-3 | 0.96 | - | - | 0.87 | 0.074 | |
HALLMARK_INTERFERON_ALPHA_RESPONSE | 5.0e-4 | 0.21 | 0.011 | 0.74 | -0.83 | 0.98 | 9.3e-3 | 0.16 | 0.2 | 0.13 | 0.78 | |
HALLMARK_DNA_REPAIR | 6.3e-4 | 0.24 | 6.3e-5 | 0.9 | 0.036 | 0.019 | -0.44 | 0.24 | -0.45 | 0.18 | 0.96 | |
BAP1 mutation | 1.4e-3 | - | 1.4e-3 | - | - | - | - | - | - | - | - | |
CTNNB1 mutation | 1.6e-3 | - | - | 0.048 | - | - | - | - | - | - | 0.013 | |
xcell: T cell CD4+ Th1 | 1.7e-3 | 0.14 | 0.6 | -0.58 | 0.42 | 0.092 | -0.7 | 1.8e-4 | -0.36 | 0.032 | 0.16 | |
HALLMARK_GLYCOLYSIS | 2.3e-3 | 0.043 | 2.8e-3 | 0.012 | 0.55 | 0.54 | -0.72 | 0.33 | -0.77 | 0.87 | 0.68 | |
B2M mutation | 2.7e-3 | - | - | 2.7e-3 | - | - | - | - | - | - | - |
Cis-association
Associations between omics data of TOR1AIP2
Trans-association
Associations of the protein abundance of TOR1AIP2 and the protein abundance of other genes
Signed p-values | ||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Gene | Meta P | BRCA | CCRCC | COAD | GBM | HNSCC | LSCC | LUAD | OV | PDAC | UCEC | |
ZMPSTE24 | 3.1e-60 | 2.2e-16 | 3.5e-8 | 0.83 | 5.8e-6 | 1.2e-8 | 5.9e-5 | 2.2e-16 | 0.21 | 3.4e-9 | 2.2e-16 | |
SEC62 | 1e-51 | 2.2e-16 | 2.2e-16 | -0.99 | 0.03 | 0.072 | 6e-7 | 4.7e-8 | 0.55 | 2.2e-16 | 2.2e-16 | |
CANX | 3e-45 | 2.2e-16 | 8.2e-10 | 0.9 | 0.029 | 2.5e-3 | 6.3e-3 | 3.5e-7 | 0.47 | 2.2e-16 | 2.2e-16 | |
CLCC1 | 5.5e-44 | 2.2e-16 | 2.9e-8 | 0.17 | 8.2e-3 | 5.7e-3 | 0.22 | 3.9e-7 | 3.4e-3 | 2.2e-16 | 1.8e-9 | |
RER1 | 1.2e-43 | 2.3e-7 | 2.2e-16 | 0.31 | 3.1e-8 | 7.3e-4 | 0.027 | 1.8e-9 | 0.69 | 2.6e-4 | 2.2e-16 | |
TM9SF2 | 4.2e-42 | 2.2e-16 | 8.5e-11 | -0.5 | 3.0e-5 | 0.028 | 7.2e-5 | 0.019 | 0.075 | 3.2e-10 | 2.2e-16 | |
MLEC | 6.4e-42 | 1.3e-10 | 8.1e-7 | 0.73 | 1.1e-5 | 0.037 | 0.45 | 1.4e-9 | 0.14 | 2.2e-16 | 2.2e-16 | |
SPTLC1 | 8.1e-41 | 3.4e-9 | 1.8e-4 | 0.095 | 1.1e-6 | 4.7e-5 | 0.025 | 1.9e-7 | 0.077 | 4.1e-6 | 2.2e-16 | |
STT3A | 1.9e-40 | 2.2e-16 | 1.7e-6 | -0.64 | 3.9e-6 | 3.7e-3 | 0.11 | 8.8e-4 | 0.47 | 2.2e-16 | 2.2e-16 | |
CCDC47 | 2.4e-40 | 8.4e-8 | 1e-7 | 0.48 | 1.8e-3 | 0.054 | 0.008 | 2.2e-16 | 0.47 | 5.6e-9 | 2.2e-16 |
Gene set enrichment analysis
Submit genes and the common logarithm of the p-values of their association with to WebGestalt.