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    CD207 CD207 molecule [ Homo sapiens (human) ]

    Gene ID: 50489, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CD207provided by HGNC
    Official Full Name
    CD207 moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:17935
    See related
    Ensembl:ENSG00000116031 MIM:604862; AllianceGenome:HGNC:17935
    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
    mouse all
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    Genomic context

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    See CD207 in Genome Data Viewer
    Location:
    2p13.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (70824130..70835816, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (70835151..70871919, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (71057342..71062946, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 21 Neighboring gene C-type lectin domain family 4 member F Neighboring gene MOB4 pseudogene 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:71057644-71058843 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71091695-71092194 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:71114858-71115508 Neighboring gene long intergenic non-protein coding RNA 1143 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71128841-71129734 Neighboring gene ventral anterior homeobox 2 Neighboring gene uncharacterized LOC124906188

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. The C-type Lectin Langerin Functions as a Receptor for Attachment and Infectious Entry of Influenza A Virus. Ng WC, et al. J Virol, 2016 Jan 1. PMID 26468543, Free PMC Article
    2. Polymorphisms in human langerin affect stability and sugar binding activity. Ward EM, et al. J Biol Chem, 2006 Jun 2. PMID 16567809
    3. Common polymorphisms in human langerin change specificity for glycan ligands. Feinberg H, et al. J Biol Chem, 2013 Dec 27. PMID 24217250, Free PMC Article
    4. Genetic characterisation of Langerin gene in human immunodeficiency virus-1-infected women from Bahia, Brazil. Costa GC, et al. Mem Inst Oswaldo Cruz, 2014 Apr. PMID 24676666, Free PMC Article
    5. Origin of langerin (CD207)-expressing antigen presenting cells in the normal oral mucosa and in oral lichen planus lesions. Solhaug MB, et al. Eur J Oral Sci, 2022 Feb. PMID 34935212

    See all (70) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Origin of langerin (CD207)-expressing antigen presenting cells in the normal oral mucosa and in oral lichen planus lesions.
      Title: Origin of langerin (CD207)-expressing antigen presenting cells in the normal oral mucosa and in oral lichen planus lesions.
    2. The molecular basis for the pH-dependent calcium affinity of the pattern recognition receptor langerin.
      Title: The molecular basis for the pH-dependent calcium affinity of the pattern recognition receptor langerin.
    3. Langerin (CD207) represents a novel interferon-stimulated gene in Langerhans cells.
      Title: Langerin (CD207) represents a novel interferon-stimulated gene in Langerhans cells.
    4. A Common Genetic Variation in Langerin (CD207) Compromises Cellular Uptake of Staphylococcus aureus.
      Title: A Common Genetic Variation in Langerin (CD207) Compromises Cellular Uptake of Staphylococcus aureus.
    5. Binding analysis between purified long and short forms of langerin and a series of keratin sulfate disaccharide components shows that the binding critically requires the 6-sulfation of Gal and that the long form of langerin displays higher affinity than the short form.
      Title: High affinity sugar ligands of C-type lectin receptor langerin.
    6. CD207(+)CD1a(+) cells are circulating in patients with active Langerhans cell histiocytosis, and TSLP and TGF-beta are potential drivers of Langerhans-like cells in vivo.
      Title: CD207(+)CD1a(+) cells circulate in pediatric patients with active Langerhans cell histiocytosis.
    7. the data provide evidence that human Langerhans cells are able to cross-present antigens after langerin-mediated internalization.
      Title: Langerin-mediated internalization of a modified peptide routes antigens to early endosomes and enhances cross-presentation by human Langerhans cells.
    8. Calcium-independent activation of an allosteric network in langerin by heparin oligosaccharides has been reported.
      Title: Calcium-Independent Activation of an Allosteric Network in Langerin by Heparin Oligosaccharides.
    9. Bacterial Polysaccharide Specificity of the Pattern Recognition Receptor Langerin Is Highly Species-dependent
      Title: Bacterial Polysaccharide Specificity of the Pattern Recognition Receptor Langerin Is Highly Species-dependent.
    10. Kinetic and Structural Studies of Interactions between Glycosaminoglycans and Langerin
      Title: Kinetic and Structural Studies of Interactions between Glycosaminoglycans and Langerin.
    Submit: New GeneRIF Correction See all GeneRIFs (48)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

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

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables D-mannose binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables carbohydrate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables carbohydrate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables pattern recognition receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in defense response to virus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in clathrin-coated endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in early endosome membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in endocytic vesicle TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    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)

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    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
      5008..10613
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015717.5 → NP_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
      UniProtKB/TrEMBL
      B2RC37
      Related
      ENSP00000386378.3, ENST00000410009.5
      Conserved Domains (1) summary
      cd03590
      Location:196 → 321
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      70824130..70835816 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532876.3 → XP_011531178.1  C-type lectin domain family 4 member K isoform X2

      UniProtKB/TrEMBL
      B2RC37
      Conserved Domains (1) summary
      cd03590
      Location:196 → 277
      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_011532875.3 → XP_011531177.1  C-type lectin domain family 4 member K isoform X1

      UniProtKB/TrEMBL
      B2RC37
      Conserved Domains (2) summary
      cd03590
      Location:196 → 283
      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:125 → 175
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      70835151..70871919 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342315.1 → XP_054198290.1  C-type lectin domain family 4 member K isoform X2

    2. XM_054342313.1 → XP_054198288.1  C-type lectin domain family 4 member K isoform X3

    3. XM_054342314.1 → XP_054198289.1  C-type lectin domain family 4 member K isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UJ71.2 GenPept UniProtKB/Swiss-Prot:Q9UJ71

    Gene LinkOut

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