Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23218
MIM: 614169
HGNC: 31928
Ensembl: ENSG00000160796
Variants:
dbSNP: 23218
ClinVar: 23218
TCGA: ENSG00000160796
COSMIC: NBEAL2
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Immune System | REACTOME | R-HSA-168256 |
| Innate Immune System | REACTOME | R-HSA-168249 |
| Neutrophil degranulation | REACTOME | R-HSA-6798695 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38272677 | 2024 | The Neurobeachin-like 2 protein (NBEAL2) controls the homeostatic level of the ribosomal protein RPS6 in mast cells. | 0 |
| 38272677 | 2024 | The Neurobeachin-like 2 protein (NBEAL2) controls the homeostatic level of the ribosomal protein RPS6 in mast cells. | 0 |
| 37349339 | 2023 | NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells. | 3 |
| 37349339 | 2023 | NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells. | 3 |
| 33300270 | 2021 | Gray platelet syndrome: NBEAL2 mutations are associated with pathology beyond megakaryocyte and platelet function defects. | 2 |
| 33300270 | 2021 | Gray platelet syndrome: NBEAL2 mutations are associated with pathology beyond megakaryocyte and platelet function defects. | 2 |
| 32384141 | 2020 | The endoplasmic reticulum protein SEC22B interacts with NBEAL2 and is required for megakaryocyte α-granule biogenesis. | 9 |
| 32384141 | 2020 | The endoplasmic reticulum protein SEC22B interacts with NBEAL2 and is required for megakaryocyte α-granule biogenesis. | 9 |
| 31171812 | 2019 | Defective Zn(2+) homeostasis in mouse and human platelets with α- and δ-storage pool diseases. | 14 |
| 31171812 | 2019 | Defective Zn(2+) homeostasis in mouse and human platelets with α- and δ-storage pool diseases. | 14 |
| 29187380 | 2018 | Nbeal2 interacts with Dock7, Sec16a, and Vac14. | 11 |
| 29869935 | 2018 | NBEAL2 mutations and bleeding in patients with gray platelet syndrome. | 14 |
| 30354215 | 2018 | NBEAL2 (Neurobeachin-Like 2) Is Required for Retention of Cargo Proteins by α-Granules During Their Production by Megakaryocytes. | 21 |
| 29187380 | 2018 | Nbeal2 interacts with Dock7, Sec16a, and Vac14. | 11 |
| 29869935 | 2018 | NBEAL2 mutations and bleeding in patients with gray platelet syndrome. | 14 |
Citation
Dessen P
NBEAL2 (neurobeachin like 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/70708/nbeal2-(neurobeachin-like-2)
