CLEC16A
C-type lectin domain containing 16A
Gene Information Card
| Symbol | CLEC16A |
|---|---|
| Full Name | C-type lectin domain containing 16A |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.13 |
| NCBI Gene ID | 23274 ncbi.nlm.nih.gov/gene/23274 |
| Ensembl ID | ENSG00000038532 |
| UniProt ID | Q2KHT3 |
| OMIM ID | 611303 |
| HGNC ID | 29013 |
| Aliases | KIAA0350, Gop-1, MSTP104 |
Description
CLEC16A encodes a protein containing a C-type lectin-like domain, which is involved in intracellular trafficking and autophagy regulation. The gene is strongly associated with susceptibility to several autoimmune diseases, including multiple sclerosis, type 1 diabetes, and primary biliary cirrhosis. CLEC16A is widely expressed, with highest levels in immune cells and the central nervous system.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple sclerosis | Risk variant in intronic region alters expression; affects immune regulation | GWAS (PMID: 17660818) |
| Type 1 diabetes | Intronic SNP rs12708716 associated with disease risk; modulates CLEC16A expression in immune cells | GWAS (PMID: 17632545) |
| Primary biliary cirrhosis | CLEC16A variant rs12924729 increases risk; involved in antigen presentation | GWAS (PMID: 22561528) |
| Rheumatoid arthritis | Association with CLEC16A locus; potential role in T-cell activation | GWAS (PMID: 24390342) |
| Crohn's disease | CLEC16A polymorphisms linked to inflammatory bowel disease susceptibility | GWAS (PMID: 21102463) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Whole blood | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Lymph node | 9.2 | Medium |
| Brain - cerebellum | 8.1 | Medium |
| Lung | 7.5 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (lymphoblast) | 15.2 | High expression |
| HEK 293 (embryonic kidney) | 6.8 | Moderate expression |
| HeLa (cervical carcinoma) | 5.1 | Low expression |
| HepG2 (hepatocellular carcinoma) | 3.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs12708716 | SNP (intronic) | 0.35 (European) | Associated with type 1 diabetes risk; alters CLEC16A expression |
| rs12924729 | SNP (intronic) | 0.28 (European) | Associated with primary biliary cirrhosis |
| rs7200786 | SNP (intronic) | 0.40 (European) | Associated with multiple sclerosis |
Mutation functional classification
Loss of Function (LOF)
Rare loss-of-function variants in CLEC16A are associated with altered autophagy and increased susceptibility to autoimmune disease.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • C-type lectin-like domain | • autophagy |
| • intracellular protein transport | • immune system process |
| • endosome to lysosome transport |
Pathways
• Autophagy (KEGG hsa04140)
• Endocytosis (KEGG hsa04144)
Protein Summary
The CLEC16A protein contains a C-type lectin-like domain and is involved in endosomal trafficking and autophagy. It interacts with the VPS15/VPS34 complex to regulate autophagosome formation. CLEC16A is highly expressed in immune cells and plays a role in antigen presentation and immune tolerance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLEC16A Knockout HEK293 Cell Line | EDJ-KQ7937 | Human | 23274 | Details Get a Quote |
| CLEC16A Knockout A-549 Cell Line | EDJ-KQ33595 | Human | 23274 | Details Get a Quote |
| CLEC16A Knockout HCT 116 Cell Line | EDJ-KQ33596 | Human | 23274 | Details Get a Quote |
| CLEC16A Knockout HeLa Cell Line | EDJ-KQ33597 | Human | 23274 | Details Get a Quote |
