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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CD207 Gene

protein-coding   GIFtS: 54
GCID: GC02M071057

CD207 Molecule, Langerin

(Previous names: CD207 antigen, langerin)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
CD207 Molecule, Langerin1 2     Langerhans Cell Specific C-Type Lectin2
CLEC4K2 3 5     Langerin3
CD207 Antigen, Langerin1 2     CD207 Antigen3
C-Type Lectin Domain Family 4 Member K2     LANGERIN5
C-Type Lectin Domain Family 4, Member K2     

External Ids:    HGNC: 179351   Entrez Gene: 504892   Ensembl: ENSG000001160317   OMIM: 6048625   UniProtKB: Q9UJ713   

Export aliases for CD207 gene to outside databases

Previous GC identifers: GC02M071015 GC02M071031 GC02M070969 GC02M070793


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CD207 Gene:
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)

GeneCards Summary for CD207 Gene: 
CD207 (CD207 molecule, langerin) is a protein-coding gene. Diseases associated with CD207 include histiocytosis, and langerhans cell sarcoma, and among its related super-pathways are ER-Phagosome pathway and Immune System. GO annotations related to this gene include carbohydrate binding and mannose binding. An important paralog of this gene is CLEC17A.

UniProtKB/Swiss-Prot: CLC4K_HUMAN, Q9UJ71
Function: Calcium-dependent lectin displaying mannose-binding specificity. Induces the formation of Birbeck
granules (BGs); is a potent regulator of membrane superimposition and zippering. Binds to sulfated as well as
mannosylated glycans, keratan sulfate (KS) and beta-glucans. Facilitates uptake of antigens and is involved in
the routing and/or processing of antigen for presentation to T cells. Major receptor on primary Langerhans cells
for Candida species, Saccharomyces species, and Malassezia furfur. Protects against human immunodeficiency
virus-1 (HIV-1) infection. Binds to high-mannose structures present on the envelope glycoprotein which is
followed by subsequent targeting of the virus to the Birbeck granules leading to its rapid degradation

Gene Wiki entry for CD207 (Langerin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CD207 gene promoter:
         AML1a   FOXD3   Nkx5-1   HNF-3beta   Meis-1b   SRY   Meis-1a   LyF-1   Pax-4a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCD207 promoter sequence
   Search SABiosciences Chromatin IP Primers for CD207

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CD207


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p13   Ensembl cytogenetic band:  2p13.3   HGNC cytogenetic band: 2p13

CD207 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CD207 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M071057:  view genomic region     (about GC identifiers)

Start:
71,057,343 bp from pter      End:
71,062,953 bp from pter
Size:
5,611 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CLC4K_HUMAN, Q9UJ71 (See protein sequence)
Recommended Name: C-type lectin domain family 4 member K  
Size: 328 amino acids; 36725 Da
Subunit: Homotrimer
Subcellular location: Membrane; Single-pass type II membrane protein. Note=Found in Birbeck granules (BGs), which
are organelles consisting of superimposed and zippered membranes
6/12 PDB 3D structures from and Proteopedia for CD207 (see all 12):
3C22 (3D)        3KQG (3D)        3P5D (3D)        3P5E (3D)        3P5F (3D)        3P5G (3D)    

Explore the universe of human proteins at neXtProt for CD207: NX_Q9UJ71

Explore proteomics data for CD207 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UJ71

  • CD207 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CD207 Protein Expression
    REFSEQ proteins: NP_056532.3  
    ENSEMBL proteins: 
     ENSP00000386378  
    Reactome Protein details: Q9UJ71
    Human Recombinant Protein Products for CD207: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for CD207 (Langerin/CD207)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for CD207
    OriGene Protein Over-expression Lysate for CD207
    OriGene MassSpec for CD207 
    OriGene Custom Protein Services for CD207
    GenScript Custom Purified and Recombinant Proteins Services for CD207
    Novus Biologicals CD207 Proteins
    Novus Biologicals CD207 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016021integral to membrane IEA--
    GO:0030139endocytic vesicle TAS10661407
    GO:0030669clathrin-coated endocytic vesicle membrane TAS--
    GO:0031901early endosome membrane TAS--

    CD207 for ontologies           About GeneDecksing



    CD207 Antibody Products: 
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    Cell Signaling Technology (CST) Antibodies for CD207  (langerin)
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    GenScript Custom Superior Antibodies Services for CD207
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    Abcam antibodies for CD207
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibodies for CD207
    LSBio Antibodies in human, mouse, rat for CD207 

    Assay Products for CD207: 
    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CD207
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CD: CD molecules
    CLEC: C-type lectin domain containing

    4 InterPro protein domains:
     IPR016187 C-type_lectin_fold
     IPR018378 C-type_lectin_CS
     IPR016186 C-type_lectin-like
     IPR001304 C-type_lectin

    Graphical View of Domain Structure for InterPro Entry Q9UJ71

    ProtoNet protein and cluster: Q9UJ71

    UniProtKB/Swiss-Prot: CLC4K_HUMAN, Q9UJ71
    Domain: The C-type lectin domain mediates dual recognition of both sulfated and mannosylated glycans
    Similarity: Contains 1 C-type lectin domain


    CD207 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CLC4K_HUMAN, Q9UJ71
    Function: Calcium-dependent lectin displaying mannose-binding specificity. Induces the formation of Birbeck
    granules (BGs); is a potent regulator of membrane superimposition and zippering. Binds to sulfated as well as
    mannosylated glycans, keratan sulfate (KS) and beta-glucans. Facilitates uptake of antigens and is involved in
    the routing and/or processing of antigen for presentation to T cells. Major receptor on primary Langerhans cells
    for Candida species, Saccharomyces species, and Malassezia furfur. Protects against human immunodeficiency
    virus-1 (HIV-1) infection. Binds to high-mannose structures present on the envelope glycoprotein which is
    followed by subsequent targeting of the virus to the Birbeck granules leading to its rapid degradation

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005537mannose binding TAS10661407
    GO:0030246carbohydrate binding IDA--
         
    CD207 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for CD207:
     Decreased Wnt reporter activit  Increased G1 DNA content  Increased HPV18 LCR reporter a  Low eccentricity cells 

         3 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Cd207):
     hematopoietic system  immune system  no phenotypic analysis 

    CD207 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CD207: Cd207tm1Mal Cd207tm1Psob Cd207tm1.1Cfg Cd207tm2Psob

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CD207 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CD207

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CD207 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CD207 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CD207
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate CD207:
    hsa-miR-146a* hsa-miR-4310 hsa-miR-107 hsa-miR-103a
    SwitchGear 3'UTR luciferase reporter plasmidCD207 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    OriGene ORF clones in mouse, rat for CD207
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    GenScript: all cDNA clones in your preferred vector: CD207 (NM_015717)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CD207
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    Sirion Biotech Customized lentivirus for stable overexpression of CD207 
                         Customized lentivirus expression plasmids for stable overexpression of CD207 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for CD207
    Search LifeMap BioReagents cell lines for CD207
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD207


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CD207 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1CDK-mediated phosphorylation and removal of Cdc6
    Cross-presentation of soluble exogenous antigens (endosomes)0.81
    Antigen processing-Cross presentation0.81
    2Immune System
    Immune System0.56
    Adaptive Immune System0.56
    3Antigen processing: Ubiquitination & Proteasome degradation
    Class I MHC mediated antigen processing & presentation0.83

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5        Reactome Pathways for CD207
        Antigen processing-Cross presentation
    Cross-presentation of soluble exogenous antigens (endosomes)
    Adaptive Immune System
    Class I MHC mediated antigen processing & presentation
    Immune System



    CD207 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CD207

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I TAS--
    GO:0002479antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS--
    GO:0042590antigen processing and presentation of exogenous peptide antigen via MHC class I TAS--
    GO:0051607defense response to virus IDA17334373

    CD207 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CD207 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CD207 (CLC4K)

    1 HMDB Compound for CD207    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    2 Novoseek inferred chemical compound relationships for CD207 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mannose 63.5 15 14722767 (2), 19363450 (1), 12960229 (1), 18061677 (1) (see all 13)
    polysaccharide 19.8 5 20026605 (3), 20181944 (1), 12626394 (1)

    Search CenterWatch for drugs/clinical trials and news about CD207 / CLC4K

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CD207 gene: 
    NM_015717.3  

    Unigene Cluster for CD207:

    CD207 molecule, langerin
    Hs.199731  [show with all ESTs]
    Unigene Representative Sequence: AJ242859
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000410009(uc002shg.3)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CD207
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate CD207:
    hsa-miR-146a* hsa-miR-4310 hsa-miR-107 hsa-miR-103a
    SwitchGear 3'UTR luciferase reporter plasmidCD207 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CD207
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CD207
    Clone
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    OriGene clones in human, mouse for CD207 (see all 7)
    OriGene ORF clones in mouse, rat for CD207
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CD207 (NM_015717)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CD207
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD207
    Sirion Biotech Customized lentivirus for stable overexpression of CD207 
                         Customized lentivirus expression plasmids for stable overexpression of CD207 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CD207
    OriGene qSTAR qPCR primer pairs in human, mouse for CD207
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CD207
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CD207
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CD207

    Additional mRNA sequence: 

    AJ242859.1 AK314927.1 BC022278.1 

    1 DOTS entry:

    DT.75170264 

    9 AceView cDNA sequences:

    BX104865 BC022278 NM_015717 AJ242859 BQ300473 AW293796 BF511185 AI669693 
    BG539681 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CD207 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATTCACCTT
    CD207 Expression
    About this image


    See CD207 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CD207

    SOURCE GeneReport for Unigene cluster: Hs.199731

    UniProtKB/Swiss-Prot: CLC4K_HUMAN, Q9UJ71
    Tissue specificity: Exclusively expressed by Langerhans cells. Expressed in astrocytoma and malignant ependymoma,
    but not in normal brain tissues

        SABiosciences Expression via Pathway-Focused PCR Array including CD207: 
              Antifungal Response in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD207

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CD207 gene from 2/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cd2071 , 5 CD207 antigen1, 5 75.26(n)1
    67.7(a)1
      6 (35.94 cM)5
    2462781  NM_144943.31  NP_659192.21 
     836712075 
    lizard
    (Anolis carolinensis)
    Reptilia CD2076
    CD207 molecule, langerin
    31(a)
    1 ↔ 1
    GL343540.1(119051-134906)


    ENSEMBL Gene Tree for CD207 (if available)
    TreeFam Gene Tree for CD207 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CD207 gene
    CLEC17A2  CLEC4E2  ASGR22  CLEC4M2  CLEC4F2  CD2092  CLEC4A2  FCER22  
    CLEC10A2  CLEC6A2  ASGR12  CLEC4C2  CLEC4D2  CLEC4G2  
    2 SIMAP similar genes for CD207 using alignment to 1 protein entry:     CLC4K_HUMAN:
    CLEC4F    CLEC4E

    CD207 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/260 SNPs in CD207 are shown (see all 260)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0638284
    Birbeck granule deficiency (BIRGD)4--see VAR_0638282 W R mis40--------
    rs2008372701,2
    Cpathogenic171058878(+) GGACCA/GGTCCC 2 R W mis11Minor allele frequency- G:0.00EU 569
    VAR_0547834
    ----see VAR_0547832 V A mis40--------
    rs15446501,2
    C,F,O,H--71056915(+) GGACCC/TTAATG 1 -- ds500120Minor allele frequency- T:0.13NS EA NA WA CSA 939
    rs15488931,2
    C,F,A,H--71056952(+) CTCCTC/GTCTGT 1 -- ds500114Minor allele frequency- G:0.37NS EA NA WA 926
    rs15446511,2
    C,F,O,H--71057081(+) AGCTAG/TAGACT 1 -- ds500129Minor allele frequency- T:0.27EA NA NS WA CSA 2692
    rs1391382811,2
    --71057092(+) AGAAGA/GTTGTG 1 -- ds50010--------
    rs1143517501,2
    C,F--71057206(+) GGACTG/AGAACT 1 -- ds50011Minor allele frequency- A:0.09WA 118
    rs1809144491,2
    --71057216(+) TTCCCC/TAGTCC 1 -- ds50010--------
    rs1436701781,2
    --71057224(+) TCCTTA/GTTATT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for CD207 (71057343 - 71062953 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CD207:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv874252CNV Loss21882294


    Human Gene Mutation Database (HGMD): CD207
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CD207
    DNA2.0 Custom Variant and Variant Library Synthesis for CD207

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604862   
    OMIM disorders: 613393  
    UniProtKB/Swiss-Prot: CLC4K_HUMAN, Q9UJ71
  • Birbeck granule deficiency (BIRGD) [MIM:613393]: A condition characterized by the absence of Birbeck
    granules in epidermal Langerhans cells. Despite the lack of Birbeck granules, Langerhans cells are present in
    normal numbers and have normal morphologic characteristics and antigen-presenting capacity. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 20/33 diseases for CD207 (see all 33):    About MalaCards
    histiocytosis    langerhans cell sarcoma    oral lichen planus    alk+ histiocytosis
    allergic conjunctivitis    malignant ependymoma    birbeck granule deficiency    langerhans-cell histiocytosis
    t cell deficiency    ependymoma    idiopathic pulmonary fibrosis    lichen planus
    conjunctivitis    measles    mycosis fungoides    pulmonary fibrosis
    diphtheria    papilloma    basal cell carcinoma    gingivitis

    2 diseases from the University of Copenhagen DISEASES database for CD207:
    Langerhans cell sarcoma     Langerhans-cell histiocytosis

    CD207 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    7 Novoseek inferred disease relationships for CD207 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    langerhans cell histiocytosis 78.7 17 18277880 (7), 14722767 (2), 17527085 (1), 18029555 (1) (see all 6)
    histiocytosis 66.9 1 17378241 (1)
    sarcoma 35.5 6 20439325 (3), 18029555 (1), 18277880 (1), 18360746 (1)
    infectious disease 0.852 3 17527085 (1), 18805593 (1), 14991068 (1)
    necrosis 0 2 12186835 (1)
    tumors 0 7 12186835 (1), 16243135 (1), 15914364 (1), 18805873 (1)
    immunodeficiency 0 2 20181944 (1), 19224860 (1)

    Human Genome Epidemiology (HuGE) Navigator: CD207 (1 document)

    Export disorders for CD207 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CD207 gene, integrated from 9 sources (see all 126):
    (articles sorted by number of sources associating them with CD207)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Langerin, a novel C-type lectin specific to Langerhans cells, is an endocytic receptor that induces the formation of Birbeck granules. (PubMed id 10661407)1, 2, 3, 9 Valladeau J.... Saeland S. (2000)
    2. Polymorphisms in human langerin affect stability and sugar binding activity. (PubMed id 16567809)1, 2, 9 Ward E.M....Taylor M.E. (2006)
    3. Dual specificity of Langerin to sulfated and mannosyl ated glycans via a single C-type carbohydrate recognition domain. (PubMed id 20026605)1, 2, 9 Tateno H....Hirabayashi J. (2010)
    4. C-type lectin Langerin is a beta-glucan receptor on h uman Langerhans cells that recognizes opportunistic and pathogenic fungi. (PubMed id 20097424)1, 2, 9 de Jong M.A....Geijtenbeek T.B. (2010)
    5. Langerin is a natural barrier to HIV-1 transmission by Langerhans cells. (PubMed id 17334373)1, 2, 9 de Witte L....Geijtenbeek T.B. (2007)
    6. Langerin/CD207 sheds light on formation of birbeck granules and their possible function in Langerhans cells. (PubMed id 14610287)1, 2, 9 Valladeau J.... Saeland S. (2003)
    7. A lack of Birbeck granules in Langerhans cells is associated with a naturally occurring point mutation in the human Langerin gene. (PubMed id 15816828)1, 2, 9 Verdijk P....Tensen C.P. (2005)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Toward a complete human genome sequence. (PubMed id 9847074)1, 3 Wilson R. (1998)
    10. Immunohistochemical expression of Langerin in Langerhans cell histiocytosis and non-Langerhans cell histiocytic disorders. (PubMed id 18277880)1, 9 Lau S.K....Weiss L.M. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 50489 HGNC: 17935 AceView: CD207 Ensembl:ENSG00000116031 euGenes: HUgn50489
    ECgene: CD207 H-InvDB: CD207

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CD207 Pharmacogenomics, SNPs, Pathways
    Functional Glycomics Gateway - Glycan Bindinghttp://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_00126

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CD207 gene:
    Search GeneIP for patents involving CD207

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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