CD207 (Langerin)
C-type lectin domain family 4 member K, langerin
Gene Information Card
| Symbol | CD207 |
|---|---|
| Full Name | CD207 molecule (langerin) |
| Gene Type | protein-coding |
| Chromosomal Location | 2p13.3 |
| NCBI Gene ID | 50489 ncbi.nlm.nih.gov/gene/50489 |
| Ensembl ID | ENSG00000116031 |
| UniProt ID | Q9UJ71 |
| OMIM ID | 604862 |
| HGNC ID | 17129 |
| Aliases | CLEC4K, Langerin |
Description
CD207, also known as langerin, is a C-type lectin receptor specifically expressed by Langerhans cells, a subset of dendritic cells in the epidermis and mucosa. It mediates the formation of Birbeck granules, which are involved in antigen capture and processing. CD207 plays a key role in the immune response to pathogens and has been implicated in HIV-1 transmission and Langerhans cell histiocytosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Langerhans cell histiocytosis | Aberrant activation of MAPK pathway; BRAF V600E mutations common in LCH lesions | PMID: 20436472, COSMIC |
| HIV-1 infection | CD207 binds HIV-1 gp120; internalization into Birbeck granules may promote or restrict viral transmission | PMID: 17277142 |
| Birbeck granule deficiency | Loss-of-function mutations in CD207 lead to absence of Birbeck granules in Langerhans cells | OMIM #604862 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 0.0 | Not detected (nTPM from GTEx; CD207 is specific to rare Langerhans cells, not bulk skin) |
| Lung | 0.0 | Not detected |
| Spleen | 0.0 | Not detected |
| Lymph node | 0.0 | Not detected |
| Bone marrow | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MUTZ-3 (Langerhans-like) | N/A | CD207 positive by flow cytometry; used as model for Langerhans cells |
| THP-1 (monocytic) | N/A | Low/negative; can be induced with GM-CSF/TGF-beta |
| HEK293 | N/A | Not expressed endogenously; used for recombinant expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.637C>T (p.Arg213*) | Nonsense | Rare | Loss of function; associated with Birbeck granule deficiency |
| c.571C>T (p.Arg191Trp) | Missense | Rare | Impaired ligand binding; reduced Birbeck granule formation |
| c.1048G>A (p.Gly350Arg) | Missense | Rare | Altered carbohydrate recognition domain; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg213*) lead to truncated protein lacking the carbohydrate recognition domain, abolishing Birbeck granule formation.
Gain of Function (GOF)
No gain-of-function mutations reported in CD207.
Dominant Negative (DN)
No dominant-negative mutations reported; CD207 functions as a homotrimer, but dominant effects have not been described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Antigen processing and presentation (Reactome: R-HSA-983170)
• C-type lectin receptors (CLRs) (KEGG: hsa04625)
• Endosomal/vacuolar pathway (Reactome: R-HSA-1236974)
Protein Summary
Langerin (CD207) is a 328-amino acid type II transmembrane C-type lectin. It forms homotrimers that recognize mannose, fucose, and GlcNAc residues on pathogens. Upon ligand binding, langerin induces receptor-mediated endocytosis and formation of Birbeck granules, which are rod-shaped organelles unique to Langerhans cells. The protein has a cytoplasmic domain, a transmembrane region, a neck domain mediating trimerization, and a C-type lectin-like domain (CTLD).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD207 Knockout HEK293 Cell Line | EDJ-KQ10045 | Human | 50489 | Details Get a Quote |
| CD207 Knockout HeLa Cell Line | EDJ-KQ56165 | Human | 50489 | Details Get a Quote |
| CD207 Knockout A-549 Cell Line | EDJ-KQ64654 | Human | 50489 | Details Get a Quote |
| CD207 Knockout HCT 116 Cell Line | EDJ-KQ73103 | Human | 50489 | Details Get a Quote |
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