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

CD207 Gene

protein-coding   GIFtS: 52
GCID: GC02M071057

CD207 molecule, langerin

(Previous names: CD207 antigen, langerin )
 Explore 37 diseases affiliated with
CD207 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CD207    

Aliases
for CD207 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
CD207 Molecule, Langerin1 2     C-Type Lectin Domain Family 4, Member K2
CLEC4K1 2 3 5     Langerhans Cell Specific C-Type Lectin2
CD207 Antigen, Langerin1 2     CD207 Antigen3
Langerin1 3     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


Summaries
for CD207 gene

(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:
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)

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)


Genomic Views
for CD207 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  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 plasmid: CD207 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:
 71,057,347 bp from pter      End:
 71,062,953 bp from pter
Size:
 5,607 bases      Orientation:
 minus strand

Proteins
for CD207 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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
6/11 PDB 3D structures from and Proteopedia for CD207 (see all 11):
3C22 (3D)        3KQG (3D)        3P5D (3D)        3P5E (3D)        3P5F (3D)        3P5G (3D)    

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UJ71

    • CD207 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_056532.3  
    ENSEMBL proteins: 
     ENSP00000386378  
    Reactome Protein details: Q9UJ71
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for CD207 (Langerin/CD207)
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    OriGene Purified Protein: CD207
    OriGene Protein Over-expression Lysate: CD207
    OriGene Custom Protein Services for CD207 
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    Novus Biologicals CD207 Proteins
    Novus Biologicals CD207 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CD207

    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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    Novus Biologicals CD207 Antibodies
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    Uscn Antibodies for CD207
    Search ThermoFisher Antibodies for CD207

    Assay Products for CD207: 
    Browse Kits and Assays available from EMD Millipore
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    Uscn ELISAs and CLIAs for CD207

    Protein Domains /
    Families
    for CD207 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CD207 for domains           About GeneDecksing

    4 InterPro domains/families:
     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


    Function
    for CD207 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: CD207
    Browse MicroRNA Expression Plasmids
    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 plasmid: CD207 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CD207 (see all 4)
    OriGene shRNA RFP: CD207
    OriGene siRNA: CD207
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CD207

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for CD207

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CD207 (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, 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)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD207 

    Cell Line
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    Search LifeMap BioReagents cell lines for CD207

    In Situ Assay
    Products:       
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    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


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

    Animal Models:
         Mouse knock-outs for CD207: Cd207tm1Mal Cd207tm1Psob Cd207tm1.1Cfg Cd207tm2Psob
         3 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Cd207):
     hematopoietic system  immune system  no phenotypic analysis 

    CD207 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CD207 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Immune System
    		Immune System1.00
    		Adaptive Immune System0.59
    2Ubiquitinated Orc1 is degraded by the proteasome
    		Cross-presentation of soluble exogenous antigens (endosomes)0.81
    		Antigen processing-Cross presentation0.60
    3Antigen processing: Ubiquitination & Proteasome degradation
    		Class I MHC mediated antigen processing & presentation0.83

    Pathway sources
    See GeneCards unified pathways
    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



    Drugs & Compounds
    for CD207 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

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

    Transcripts
    for CD207 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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)

    miRNA
    Products:             		 OriGene 3'-UTR Clone: CD207
    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: CD207 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CD207 (see all 4)
    OriGene shRNA RFP: CD207
    OriGene siRNA: CD207
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CD207
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, 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 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    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 cDNA sequence: 

    AJ242859.1 AK314927.1 BC022278.1 

    1 DOTS entry:

    DT.75170264 

    9 AceView cDNA sequences:

    BX104865 AJ242859 BC022278 NM_015717 AW293796 BQ300473 BF511185 AI669693 
    BG539681 

    GeneLoc Exon Structure


    Expression
    for CD207 gene

    (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
    CGAP TAG: AATTCACCTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene 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
    for CD207 gene

    (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 2/9 species (see all 9)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    (see all 3)    		 --
    		 41(a)
    29(a)
    (see all 3)    		 many ↔ many
    many ↔ many
    (see all 3)    		 GL343540.1(119657-124514)
    GL343540.1(490540-494917)
    zebrafish
    (Danio rerio)    		 Actinopterygii si:ch211-170d8.86
    si:ch211-170d8.56
    		 si:ch211-170d8.5
    		 22(a)
    19(a)
    		 possible ortholog
    possible ortholog
    		 8(41695385-41707267)
    8(41685924-41692286)


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

    Paralogs
    for CD207 gene

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

    CD207 for paralogs           About GeneDecksing



    Genomic Variants
    for CD207 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/187 NCBI SNPs in CD207 are shown (see all 187)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs2008372701,2
    		Cpathogenic71058878(+) GGACCA/GGTCCC 2 R W mis11Minor allele frequency- G:0.00EU 569
    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--------
    rs1872182971,2
    		C,--71057461(+) GAGGAA/GGAGGT 1 -- ut310--------
    rs1919741801,2
    		--71057586(+) AAGGAA/GATACA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for CD207 (71057347 - 71062953 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CD207: --
    Human Gene Mutation Database (HGMD): CD207

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CD207
    DNA2.0 Custom Variant and Variant Library Synthesis for CD207

    Disorders / Diseases
    for CD207 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    CD207 for disorders           About GeneDecksing

    OMIM gene information: 604862   
    OMIM disorders: 613393  
    UniProtKB/Swiss-Prot: CLC4K_HUMAN, Q9UJ71
  • Defects in CD207 are the cause of Birbeck granule deficiency (BIRGD) [MIM:613393]. It is 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

    20/37 diseases for CD207 (see all 37):    About MalaCards
    birbeck granule deficiency    langerhans-cell histiocytosis    alk+ histiocytosis    lichen planus
    oral lichen planus    histiocytosis    mycosis fungoides    langerhans cell sarcoma
    idiopathic pulmonary fibrosis    malignant ependymoma    allergic conjunctivitis    pulmonary fibrosis
    inflammatory bowel disease    ependymoma    basal cell carcinoma    conjunctivitis
    diphtheria    sarcoma    fibrosis    papilloma

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

    7 Novoseek 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

    Publications
    for CD207 gene

    (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 124):
    (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)

    External Searches for CD207 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Genome Databases showing CD207 gene

    (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

    Other Databases showing CD207 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CD207 gene

    (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

    Intellectual Property
    for CD207 gene

    (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

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