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CD207 CD207 molecule, langerin [ Homo sapiens (human) ]

Gene ID: 50489, updated on 15-Dec-2014
Official Symbol
CD207provided by HGNC
Official Full Name
CD207 molecule, langerinprovided by HGNC
Primary source
HGNC:HGNC:17935
See related
Ensembl:ENSG00000116031; HPRD:07278; MIM:604862; Vega:OTTHUMG00000153176
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]
See CD207 in Epigenomics, MapViewer
Location:
2p13
Exon count:
6
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (70830212..70835823, 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 MOB family member 4, phocein pseudogene Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 21 Neighboring gene C-type lectin domain family 4, member F Neighboring gene ventral anterior homeobox 2 Neighboring gene ATP6V1B1 antisense RNA 1 Neighboring gene ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

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

Go to the HIV-1, Human Interaction Database

  • 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...
Products Interactant Other Gene Complex Source Pubs Description

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

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 

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

mRNA and Protein(s)

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

    See proteins identical to NP_056532.4

    Status: REVIEWED

    Source sequence(s)
    AC007395, AJ242859, BX104865
    Consensus CDS
    CCDS74520.1
    UniProtKB/Swiss-Prot
    Q9UJ71
    Related
    ENSP00000386378, OTTHUMP00000203299, ENST00000410009, OTTHUMT00000329959
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

    Range
    70830212..70835823
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

    Range
    70986667..70992278
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    70793731..70799342
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)