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CD207 CD207 molecule [ Homo sapiens (human) ]

Gene ID: 50489, updated on 17-Jun-2019

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
109.20190607 current GRCh38.p13 (GCF_000001405.39) 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
not available

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, ENST00000410009.5
    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.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 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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