Entity Details
| Primary name |
CL16A_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q2KHT3 |
| EntryName | CL16A_HUMAN |
| FullName | Protein CLEC16A |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 1053 |
| SequenceStatus | complete |
| DateCreated | 2007-02-06 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Endosome membrane |
| Lysosome membrane |
Domains
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| Domain | Name | Category | Type |
| IPR019155 | CLEC16A/TT9, N-terminal | Domain | Domain |
| IPR039272 | CLEC16A/TT9 | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 222100 | OMIM | Diabetes mellitus, insulin-dependent (IDDM) | A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. Disease susceptibility is associated with variants affecting the gene represented in this entry. Three common non-coding variants of CLEC16A in strong linkage disequilibrium reach genome-wide significance for association with the disease (PubMed:17632545). The non-coding variant rs12708716 is associated with reduced expression of CLEC16A in beta cells and reduced beta cell function (PubMed:24949970). |
Interactions
0 interactions
| Interactor | Partner | Sources | Publications | Link |