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CD207 CD207 molecule [ Homo sapiens (human) ]

Gene ID: 50489, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (70824130..70835816, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (70835151..70871919, complement)
105.20220307 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
  • 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. 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
  2. The molecular basis for the pH-dependent calcium affinity of the pattern recognition receptor langerin. Joswig JO, et al. J Biol Chem, 2021 Jan-Jun. PMID 33989634, Free PMC Article
  3. Langerin (CD207) represents a novel interferon-stimulated gene in Langerhans cells. Maarifi G, et al. Cell Mol Immunol, 2020 May. PMID 31607745, Free PMC Article
  4. A Common Genetic Variation in Langerin (CD207) Compromises Cellular Uptake of Staphylococcus aureus. van Dalen R, et al. J Innate Immun, 2020. PMID 31141812, Free PMC Article
  5. Calcium-Independent Activation of an Allosteric Network in Langerin by Heparin Oligosaccharides. Hanske J, et al. Chembiochem, 2017 Jul 4. PMID 28198086

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 carbohydrate binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables carbohydrate binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables mannose binding TAS
Traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological process involved in interspecies interaction between organisms IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in defense response to virus IDA
Inferred from Direct Assay
more info
 PubMed 
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_2023_10

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

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