Entity Details
| Primary name |
PCD19_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q8TAB3 |
| EntryName | PCD19_HUMAN |
| FullName | Protocadherin-19 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 1148 |
| SequenceStatus | complete |
| DateCreated | 2004-01-16 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cell membrane |
Domains
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| Domain | Name | Category | Type |
| IPR002126 | Cadherin-like | Domain | Domain |
| IPR013164 | Cadherin, N-terminal | Domain | Domain |
| IPR015919 | Cadherin-like superfamily | Family | Homologous superfamily |
| IPR020894 | Cadherin conserved site | Site | Conserved site |
| IPR030716 | Protocadherin-19 | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 300088 | OMIM | Developmental and epileptic encephalopathy 9 (DEE9) | A condition characterized by seizure with onset in infancy or early childhood, cognitive impairment, and delayed development of variable severity in some patients. Additional features include autistic signs and psychosis. The disorder is sex-limited, with the phenotype being restricted to females. The disease is caused by variants affecting the gene represented in this entry. |
Drugs
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| Drug | Name | Source | Type |
| DB01373 | Calcium | Drugbank | small molecule |
Interactions
0 interactions
| Interactor | Partner | Sources | Publications | Link |