Entity Details
| Primary name |
NBEL2_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q6ZNJ1 |
| EntryName | NBEL2_HUMAN |
| FullName | Neurobeachin-like protein 2 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 2754 |
| SequenceStatus | complete |
| DateCreated | 2008-05-20 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Endoplasmic reticulum |
Domains
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| Domain | Name | Category | Type |
| IPR000409 | BEACH domain | Domain | Domain |
| IPR001680 | WD40 repeat | Repeat | Repeat |
| IPR013320 | Concanavalin A-like lectin/glucanase domain superfamily | Family | Homologous superfamily |
| IPR016024 | Armadillo-type fold | Family | Homologous superfamily |
| IPR023362 | PH-BEACH domain | Domain | Domain |
| IPR026916 | Neurobeachin-like protein 2 | Family | Family |
| IPR031570 | Domain of unknown function DUF4704 | Domain | Domain |
| IPR036322 | WD40-repeat-containing domain superfamily | Family | Homologous superfamily |
| IPR036372 | BEACH domain superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 139090 | OMIM | Gray platelet syndrome (GPS) | A rare platelet disorder characterized by a selective deficiency in the number and contents of platelet alpha-granules. It is associated with mild to moderate bleeding tendency and moderate thrombocytopenia. The platelets are enlarged and have a gray appearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
4 interactions