NBEAL2
Neurobeachin-like 2: A key regulator of platelet biogenesis and dense granule formation
Gene Information Card
| Symbol | NBEAL2 |
|---|---|
| Full Name | Neurobeachin-like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 23218 ncbi.nlm.nih.gov/gene/23218 |
| Ensembl ID | ENSG00000163946 |
| UniProt ID | Q6ZN04 |
| OMIM ID | 614169 |
| HGNC ID | 31937 |
| Aliases | BDPLT4, GPS, KIAA0539, MGC138207 |
Description
NBEAL2 encodes neurobeachin-like 2, a BEACH domain-containing protein involved in vesicle trafficking and platelet dense granule biogenesis. Loss-of-function mutations cause gray platelet syndrome (GPS), characterized by thrombocytopenia, large platelets, and absence of platelet dense granules.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gray platelet syndrome (GPS) | Loss-of-function mutations in NBEAL2 impair platelet dense granule formation and release, leading to bleeding diathesis. | Multiple studies; OMIM #139090 |
| Bleeding disorder, platelet-type 4 (BDPLT4) | Same mechanism as GPS; NBEAL2 mutations cause autosomal recessive macrothrombocytopenia with reduced dense granules. | ClinVar; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.3 | Medium |
| Whole blood | 8.7 | Low |
| Spleen | 6.2 | Low |
| Lung | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Megakaryocytes | 25.6 | High expression; key for platelet production |
| Platelets | 18.4 | High expression; essential for dense granule function |
| HEK 293 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.349C>T (p.Arg117*) | Nonsense | Rare | Loss of function; truncation of NBEAL2 protein |
| c.1246_1247del (p.Leu416Glufs*2) | Frameshift | Rare | Loss of function; premature stop codon |
| c.2332C>T (p.Arg778Trp) | Missense | Rare | Loss of function; disrupts BEACH domain |
Mutation functional classification
Loss of Function (LOF)
Most NBEAL2 mutations are loss-of-function, leading to gray platelet syndrome.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Platelet degranulation (Reactome: R-HSA-114608)
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
Protein Summary
NBEAL2 is a 2,754-amino acid protein containing a BEACH domain and WD40 repeats. It localizes to the Golgi and vesicular structures in megakaryocytes and platelets, facilitating dense granule maturation and cargo loading. Loss of NBEAL2 results in empty platelet dense granules and impaired platelet function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NBEAL2 Knockout HEK293 Cell Line | EDJ-KQ7889 | Human | 23218 | Details Get a Quote |
| NBEAL2 Knockout A-549 Cell Line | EDJ-KQ33483 | Human | 23218 | Details Get a Quote |
| NBEAL2 Knockout HCT 116 Cell Line | EDJ-KQ33484 | Human | 23218 | Details Get a Quote |
| NBEAL2 Knockout HeLa Cell Line | EDJ-KQ33485 | Human | 23218 | Details Get a Quote |
