| Tbio | Biogenesis of lysosome-related organelles complex 1 subunit 2 |
Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes (PubMed:15102850, PubMed:17182842). In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension (By similarity). As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor (PubMed:25898167). May play a role in cell proliferation (PubMed:15381421).
This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Liver Cirrhosis, Experimental | 769 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| juvenile dermatomyositis | 1187 | 2.8e-07 |
| ovarian cancer | 8520 | 2.3e-05 |
| medulloblastoma, large-cell | 6241 | 4.2e-05 |
| medulloblastoma | 720 | 3.1e-04 |
| primary pancreatic ductal adenocarcinoma | 1109 | 4.4e-03 |
| primary Sjogren syndrome | 735 | 5.6e-03 |
| pancreatic cancer | 2398 | 5.7e-03 |
| acute myeloid leukemia | 783 | 4.8e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Venous insufficiency | 9 | 8.476 | 4.0 |
| Varicose veins | 20 | 7.559 | 3.8 |
| Thrombophlebitis | 19 | 5.069 | 2.5 |
| Pulmonary embolism | 55 | 4.39 | 2.2 |
| Cellulitis | 20 | 3.655 | 1.8 |
| Klippel-Trenaunay syndrome | 13 | 3.274 | 1.6 |
| Disease | log2 FC | p |
|---|---|---|
| acute myeloid leukemia | 1.900 | 4.8e-02 |
| juvenile dermatomyositis | 1.063 | 2.8e-07 |
| medulloblastoma | -1.100 | 3.1e-04 |
| medulloblastoma, large-cell | -1.500 | 4.2e-05 |
| ovarian cancer | -1.300 | 2.3e-05 |
| pancreatic cancer | 1.200 | 5.7e-03 |
| primary pancreatic ductal adenocarcinoma | 1.172 | 4.4e-03 |
| primary Sjogren syndrome | 1.100 | 5.6e-03 |
| Accession | Q6QNY1 B4DQV2 Q5W040 Q8WUI8 BLOC-1 subunit 2 |
| Symbols |
CEAP BLOS2 BORCS2 CEAP11 |
