Gene: CD207

Alternate names for this Gene: CLEC4K

Gene Summary: The protein encoded by this gene is expressed only in Langerhans cells which are immature dendritic cells of the epidermis and mucosa. It is localized in the Birbeck granules, organelles present in the cytoplasm of Langerhans cells and consisting of superimposed and zippered membranes. It is a C-type lectin with mannose binding specificity, and it has been proposed that mannose binding by this protein leads to internalization of antigen into Birbeck granules and providing access to a nonclassical antigen-processing pathway. Mutations in this gene result in Birbeck granules deficiency or loss of sugar binding activity.

Gene is located in Chromosome: 2

Location in Chromosome : 2p13.3

Description of this Gene: CD207 molecule

Type of Gene: protein-coding

rs200837270 in CD207 gene and BIRBECK GRANULE DEFICIENCY PMID 15816828 2005 A lack of Birbeck granules in Langerhans cells is associated with a naturally occurring point mutation in the human Langerin gene.

PMID 16567809 2006 Polymorphisms in human langerin affect stability and sugar binding activity.

rs17006471 in CD207 gene and Dermatitis, Atopic PMID 23886662 2013 A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.