Entity Details
| Primary name |
VWA3B_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q502W6 |
| EntryName | VWA3B_HUMAN |
| FullName | von Willebrand factor A domain-containing protein 3B |
| TaxID | 9606 |
| Evidence | evidence at transcript level |
| Length | 1294 |
| SequenceStatus | complete |
| DateCreated | 2008-05-20 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cytoplasm |
Domains
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| Domain | Name | Category | Type |
| IPR002035 | von Willebrand factor, type A | Domain | Domain |
| IPR002999 | Tudor domain | Domain | Domain |
| IPR032770 | Domain of unknown function DUF4537 | Domain | Domain |
| IPR036465 | von Willebrand factor A-like domain superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 616948 | OMIM | Spinocerebellar ataxia, autosomal recessive, 22 (SCAR22) | A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR22 patients manifest variable severity of intellectual disability associated with adult-onset cerebellar ataxia. The disease may be caused by variants affecting the gene represented in this entry. |
Interactions
0 interactions
| Interactor | Partner | Sources | Publications | Link |