Entity Details
| Primary name |
ZN469_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q96JG9 |
| EntryName | ZN469_HUMAN |
| FullName | Zinc finger protein 469 |
| TaxID | 9606 |
| Evidence | evidence at transcript level |
| Length | 3925 |
| SequenceStatus | complete |
| DateCreated | 2003-10-24 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Nucleus |
Domains
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| Domain | Name | Category | Type |
| IPR013087 | Zinc finger C2H2-type | Domain | Domain |
| IPR036236 | Zinc finger C2H2 superfamily | Family | Homologous superfamily |
| IPR039270 | Zinc finger protein 469 | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 229200 | OMIM | Brittle cornea syndrome 1 (BCS1) | A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints. It shares some features with, but is much less severe than, the ocular form of Ehlers-Danlos syndrome (EDS6). The disease is caused by variants affecting the gene represented in this entry. |
Interactions
2 interactions