NBEAL2 Gene Summary [Human]
The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011]
Details
| Type | Protein Coding |
| Official Symbol | NBEAL2 |
| Official Name | neurobeachin like 2 [Source:HGNC Symbol;Acc:HGNC:31928] |
| Ensembl ID | ENSG00000160796 |
| Bio databases IDs | |
| Aliases | neurobeachin like 2 |
| Synonyms | 1110014F23Rik, BDPLT4, GPS, KIAA0540, mKIAA0540, Nbeal2-ps1, neurobeachin-like 2, RGD1306501 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NBEAL2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- WD40 repeats
- Domain of unknown function (DUF4800)
- Neurobeachin beta propeller domain
- WD domain, G-beta repeat
- WD40
- protein binding
- Pleckstrin homology-like domain
- Beach
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- gray platelet syndrome
- thrombocytopenia
- metastasis
- bleeding
- splenomegaly
- productive infection by HIV-1
role in cell
- activation in
- binding in
- aggregation
- expression in
- proliferation
- number
- formation
- quantity
- activation
- abnormal morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Plasma Membrane
- Endoplasmic Reticulum
- secretory granule membrane
- tertiary granule membrane
- recycling endosomes
- cytoplasmic vesicles
- lysosome-related organelle
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NBEAL2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein localization
- platelet formation
Cellular Component
Where in the cell the gene product is active
- membrane
- cytosol
- endoplasmic reticulum
- plasma membrane
- tertiary granule membrane
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- protein binding