Gene
nbeal2
- ID
- ZDB-GENE-100922-283
- Name
- neurobeachin-like 2
- Symbol
- nbeal2 Nomenclature History
- Previous Names
-
- si:ch211-32j10 (1)
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to enable protein kinase binding activity. Acts upstream of or within platelet formation. Predicted to be located in endoplasmic reticulum. Predicted to be active in cytosol and membrane. Human ortholog(s) of this gene implicated in gray platelet syndrome. Orthologous to human NBEAL2 (neurobeachin like 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Albers et al., 2011
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| gray platelet syndrome | Alliance | Gray platelet syndrome | 139090 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000409 | BEACH domain |
| Domain | IPR023362 | PH-BEACH domain |
| Domain | IPR031570 | Neurobeachin/BDCP, DUF4704 |
| Domain | IPR046851 | Neurobeachin, beta-propeller domain |
| Domain | IPR046852 | Neurobeachin, alpha-solenoid region |
| Family | IPR050865 | BEACH Domain-Containing |
| Homologous_superfamily | IPR011989 | Armadillo-like helical |
| Homologous_superfamily | IPR011993 | PH-like domain superfamily |
| Homologous_superfamily | IPR013320 | Concanavalin A-like lectin/glucanase domain superfamily |
| Homologous_superfamily | IPR015943 | WD40/YVTN repeat-like-containing domain superfamily |
| Homologous_superfamily | IPR016024 | Armadillo-type fold |
| Homologous_superfamily | IPR036322 | WD40-repeat-containing domain superfamily |
| Homologous_superfamily | IPR036372 | BEACH domain superfamily |
| Repeat | IPR001680 | WD40 repeat |
Domain Details Per Protein
| Protein | Length | Armadillo-like helical | Armadillo-type fold | BEACH domain | BEACH Domain-Containing | BEACH domain superfamily | Concanavalin A-like lectin/glucanase domain superfamily | Neurobeachin, alpha-solenoid region | Neurobeachin/BDCP, DUF4704 | Neurobeachin, beta-propeller domain | PH-BEACH domain | PH-like domain superfamily | WD40 repeat | WD40-repeat-containing domain superfamily | WD40/YVTN repeat-like-containing domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:E7FAW3
|
2801 | ||||||||||||||
|
UniProtKB:A0A8M9Q1W1
|
2800 | ||||||||||||||
|
UniProtKB:A0A8M3B1J9
|
2831 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
nbeal2-201
(1)
|
Ensembl | 8,367 nt | ||
| mRNA |
nbeal2-203
(1)
|
Ensembl | 8,456 nt | ||
| ncRNA |
nbeal2-002
(1)
|
Ensembl | 676 nt |
Interactions and Pathways
No data available
Plasmids
No data available