| + |
NBEAL2 | up-regulates 
|
Platelet_morphogenesis |
0.7 |
| Identifier |
Residue |
Sequence |
Organism |
Cell Line |
| SIGNOR-261882 |
|
|
Homo sapiens |
Blood Platelet |
| pmid |
sentence |
| 28082341 |
We compared platelet size and number of α-granules for two NBEAL2 and two GATA1-deficient patients and found reduced numbers of α-granules for all, with the defect being more pronounced for NBEAL2 deficiency. |
|
| Publications: |
1 |
Organism: |
Homo Sapiens |
| + |
NBEAL2 | up-regulates
|
Platelet_alpha_granule_formation |
0.7 |
| Identifier |
Residue |
Sequence |
Organism |
Cell Line |
| SIGNOR-261883 |
|
|
Homo sapiens |
Blood Platelet |
| pmid |
sentence |
| 28082341 |
We compared platelet size and number of α-granules for two NBEAL2 and two GATA1-deficient patients and found reduced numbers of α-granules for all, with the defect being more pronounced for NBEAL2 deficiency. |
|
| Publications: |
1 |
Organism: |
Homo Sapiens |
| + |
NBEAL2 | up-regulates
|
VWF |
0.276 |
| Identifier |
Residue |
Sequence |
Organism |
Cell Line |
| SIGNOR-261884 |
|
|
Homo sapiens |
Blood Platelet |
| pmid |
sentence |
| 28082341 |
Recent in vitro megakaryopoiesis studies using HSCs from GPS patients with NBEAL2 mutations showed normal MK differentiation with defective proplatelet formation and reduced α-granule proteins such as von Willebrand factor (VWF), thrombospondin and P-selectin. |
|
| Publications: |
1 |
Organism: |
Homo Sapiens |
| + |
GATA1 | up-regulates quantity by expression
transcriptional regulation
|
NBEAL2 |
0.385 |
| Identifier |
Residue |
Sequence |
Organism |
Cell Line |
| SIGNOR-261881 |
|
|
Homo sapiens |
Blood Platelet |
| pmid |
sentence |
| 28082341 |
In conclusion, we herein show a long-distance regulatory region with GATA1 binding sites as being a strong enhancer for NBEAL2 expression. |
|
| Publications: |
1 |
Organism: |
Homo Sapiens |
| + |
NBEAL2 | down-regulates 
|
IQGAP1 |
0.2 |
| Identifier |
Residue |
Sequence |
Organism |
Cell Line |
| SIGNOR-261890 |
|
|
Mus musculus |
Blood Platelet |
| pmid |
sentence |
| 29187380 |
We found that the level of Iqgap1, a protein that stabilizes the active forms of Cdc42 and Rac1, was also significantly higher in Nbeal2−/− platelets |
|
| Publications: |
1 |
Organism: |
Mus Musculus |
| + |
NBEAL2 | up-regulates activity 
binding
|
DOCK7 |
0.39 |
| Identifier |
Residue |
Sequence |
Organism |
Cell Line |
| SIGNOR-261891 |
|
|
Mus musculus |
Blood Platelet |
| pmid |
sentence |
| 29187380 |
In summary, from 129 binding partners of Nbeal2 identified by mass spectrometry, we have confirmed the interaction of 3, Dock7, Sec16a, and Vac14, by different biochemical and cellular approaches|Given the significant reduction of Dock7 levels and its altered localization in Nbeal2−/− platelets, we postulated that this canonical signaling pathway may be disrupted and set out to test this using control and Nbeal2−/− platelets. |
|
| Publications: |
1 |
Organism: |
Mus Musculus |
| + |
NBEAL2 | up-regulates
|
SELP |
0.302 |
| Identifier |
Residue |
Sequence |
Organism |
Cell Line |
| SIGNOR-261885 |
|
|
Homo sapiens |
Blood Platelet |
| pmid |
sentence |
| 28082341 |
Recent in vitro megakaryopoiesis studies using HSCs from GPS patients with NBEAL2 mutations showed normal MK differentiation with defective proplatelet formation and reduced α-granule proteins such as von Willebrand factor (VWF), thrombospondin and P-selectin. |
|
| Publications: |
1 |
Organism: |
Homo Sapiens |
| + |
NBEAL2 |
binding
|
VAC14 |
0.304 |
| Identifier |
Residue |
Sequence |
Organism |
Cell Line |
| SIGNOR-261892 |
|
|
Mus musculus |
Blood Platelet |
| pmid |
sentence |
| 29187380 |
In summary, from 129 binding partners of Nbeal2 identified by mass spectrometry, we have confirmed the interaction of 3, Dock7, Sec16a, and Vac14, by different biochemical and cellular approaches|Given the significant reduction of Dock7 levels and its altered localization in Nbeal2−/− platelets, we postulated that this canonical signaling pathway may be disrupted and set out to test this using control and Nbeal2−/− platelets. |
|
| Publications: |
1 |
Organism: |
Mus Musculus |
3.0
NBEAL2
- 
- 