Entity Details
| Primary name |
DSG4_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q86SJ6 |
| EntryName | DSG4_HUMAN |
| FullName | Desmoglein-4 |
| TaxID | 9606 |
| Evidence | evidence at transcript level |
| Length | 1040 |
| SequenceStatus | complete |
| DateCreated | 2005-03-01 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cell junction |
| Cell membrane |
Domains
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| Domain | Name | Category | Type |
| IPR000233 | Cadherin, cytoplasmic domain | Domain | Domain |
| IPR002126 | Cadherin-like | Domain | Domain |
| IPR009122 | Desmosomal cadherin | Family | Family |
| IPR009123 | Desmoglein | Family | Family |
| IPR015919 | Cadherin-like superfamily | Family | Homologous superfamily |
| IPR020894 | Cadherin conserved site | Site | Conserved site |
| IPR027397 | Catenin binding domain superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 607903 | OMIM | Hypotrichosis 6 (HYPT6) | A condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed. HYPT6 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
0 interactions
| Interactor | Partner | Sources | Publications | Link |