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
- Involved in platelet formation. Predicted to localize to endoplasmic reticulum. 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