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    CD207 CD207 molecule [ Homo sapiens (human) ]

    Gene ID: 50489, updated on 9-Dec-2018

    Summary

    Official Symbol
    CD207provided by HGNC
    Official Full Name
    CD207 moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:17935
    See related
    Ensembl:ENSG00000116031 MIM:604862
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CLEC4K
    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. [provided by RefSeq, Aug 2010]
    Expression
    Biased expression in skin (RPKM 26.1), esophagus (RPKM 6.2) and 1 other tissue See more
    Orthologs

    Genomic context

    See CD207 in Genome Data Viewer
    Location:
    2p13.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (70825248..70860787, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (71057343..71062953, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 21 Neighboring gene MOB family member 4, phocein pseudogene Neighboring gene C-type lectin domain family 4 member F Neighboring gene long intergenic non-protein coding RNA 1143 Neighboring gene ventral anterior homeobox 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Birbeck granule deficiency
    MedGen: C3150657 OMIM: 613393 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    NHGRI GWA Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 binds to B cells through mannose C-type lectin receptors (MCLRs), such as DC-SIGN, mannose receptor, and langerin PubMed
    Envelope surface glycoprotein gp160, precursor env Purified HIV-1 gp140 binds to langerin trimers on the surface of epidermal Langerhans cells via the carbohydrate recognition domain (amino-acid residues 250-310) in a Ca2+-dependent manner PubMed
    capsid gag HIV-1 CA co-localizes with langerin and caveolin-1 at the cell membrane of human Langerhans cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Antigen processing-Cross presentation, organism-specific biosystem (from REACTOME)
      Antigen processing-Cross presentation, organism-specific biosystemMHC class I molecules generally present peptide antigens derived from proteins synthesized by the cell itself to CD8+ T cells. However, in some circumstances, antigens from extracellular environment ...
    • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
      Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
    • Cross-presentation of soluble exogenous antigens (endosomes), organism-specific biosystem (from REACTOME)
      Cross-presentation of soluble exogenous antigens (endosomes), organism-specific biosystemExogenous soluble antigens are cross-presented by dendritic cells, albeit with lower efficiency than for particulate substrates. Soluble antigens destined for cross-presentation are taken up by disti...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    carbohydrate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mannose binding TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    clathrin-coated endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    early endosome membrane TAS
    Traceable Author Statement
    more info
     
    endocytic vesicle TAS
    Traceable Author Statement
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    C-type lectin domain family 4 member K
    Names
    C-type lectin domain family 4, member K
    CD207 antigen, langerin
    CD207 molecule, langerin
    Langerhans cell specific c-type lectin

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033914.1 RefSeqGene

      Range
      5001..10612
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015717.5NP_056532.4  C-type lectin domain family 4 member K

      See identical proteins and their annotated locations for NP_056532.4

      Status: REVIEWED

      Source sequence(s)
      AC007395, AJ242859, BX104865
      Consensus CDS
      CCDS74520.1
      UniProtKB/Swiss-Prot
      Q9UJ71
      Related
      ENSP00000386378.3, ENST00000410009.4
      Conserved Domains (1) summary
      cd03590
      Location:196321
      CLECT_DC-SIGN_like; C-type lectin-like domain (CTLD) of the type found in human dendritic cell (DC)-specific intercellular adhesion molecule 3-grabbing non-integrin (DC-SIGN) and the related receptor, DC-SIGN receptor (DC-SIGNR)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      70825248..70860787 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532876.2XP_011531178.1  C-type lectin domain family 4 member K isoform X3

      Conserved Domains (1) summary
      cd03590
      Location:196277
      CLECT_DC-SIGN_like; C-type lectin-like domain (CTLD) of the type found in human dendritic cell (DC)-specific intercellular adhesion molecule 3-grabbing non-integrin (DC-SIGN) and the related receptor, DC-SIGN receptor (DC-SIGNR)
    2. XM_011532875.2XP_011531177.1  C-type lectin domain family 4 member K isoform X2

      Conserved Domains (2) summary
      cd03590
      Location:196283
      CLECT_DC-SIGN_like; C-type lectin-like domain (CTLD) of the type found in human dendritic cell (DC)-specific intercellular adhesion molecule 3-grabbing non-integrin (DC-SIGN) and the related receptor, DC-SIGN receptor (DC-SIGNR)
      cl09111
      Location:125175
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
    3. XM_011532874.1XP_011531176.1  C-type lectin domain family 4 member K isoform X1

      See identical proteins and their annotated locations for XP_011531176.1

      UniProtKB/Swiss-Prot
      Q9UJ71
      Conserved Domains (1) summary
      cd03590
      Location:196321
      CLECT_DC-SIGN_like; C-type lectin-like domain (CTLD) of the type found in human dendritic cell (DC)-specific intercellular adhesion molecule 3-grabbing non-integrin (DC-SIGN) and the related receptor, DC-SIGN receptor (DC-SIGNR)
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