CD207 Gene Summary [Human]

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. [provided by RefSeq, Aug 2010]

Details

Type
Protein Coding
Official Symbol
CD207
Official Name
CD207 molecule [Source:HGNC Symbol;Acc:HGNC:17935]
Ensembl ID
ENSG00000116031
Bio databases IDs NCBI: 50489 Ensembl: ENSG00000116031
Aliases CD207 molecule
Synonyms CD207 antigen, CD207 molecule, CLEC4K, LANGERIN, LOC686223, RGD1565913
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CD207 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • C-type lectin (CTL)/C-type lectin-like (CTLD) domain
  • prefoldin
  • Lectin C-type domain
  • protein binding
  • carbohydrate binding
  • mannose binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • Langerhans cell histiocytosis
  • Birbeck granule deficiency
  • Erdheim-Chester disease
  • EGFR mutation positive adenocarcinoma of the lung
  • EGFR mutation positive non-small cell lung cancer
  • lung adenocarcinoma formation
  • EGFR expression positive non-squamous non-small cell lung cancer
  • skin neoplasia
  • skin basal cell carcinoma
  • basal cell skin cancer
regulated by
regulates
  • IgG3
  • IgM
  • IgG2a
  • IgA
  • IgG1
role in cell
  • quantity
  • formation
  • migration
  • abnormal morphology
  • depletion

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • endocytic vesicle membrane
  • cell surface
  • intracellular space
  • pericentriolar regions
  • cellular membrane
  • endosomal membrane
  • Birbeck granules
  • recycling endosomes
  • early endosomes
  • endocytotic vesicle

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human CD207 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • interspecies interaction between organisms
  • defense response to virus

Cellular Component

Where in the cell the gene product is active
  • early endosome membrane
  • endocytic vesicle
  • clathrin-coated endocytic vesicle membrane
  • external side of plasma membrane
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • mannose binding
  • protein binding
  • carbohydrate binding

Gene-Specific Assays for Results You Can Trust

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