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Aliases for CD207 Gene

Aliases for CD207 Gene

  • CD207 Molecule, Langerin 2 3
  • CLEC4K 3 4 6
  • CD207 Antigen, Langerin 2 3
  • LANGERIN 4 6
  • C-Type Lectin Domain Family 4, Member K 3
  • C-Type Lectin Domain Family 4 Member K 3
  • Langerhans Cell Specific C-Type Lectin 3
  • CD207 Antigen 4

External Ids for CD207 Gene

Summaries for CD207 Gene

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 birbeck granule deficiency and langerhans-cell histiocytosis. Among its related pathways are Class I MHC mediated antigen processing and presentation and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include carbohydrate binding and mannose binding. An important paralog of this gene is CLEC4D.

UniProtKB/Swiss-Prot for CD207 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CD207 Gene

Genomics for CD207 Gene

Genomic Location for CD207 Gene

Start:
70,830,212 bp from pter
End:
70,835,823 bp from pter
Size:
5,612 bases
Orientation:
Minus strand

Genomic View for CD207 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CD207 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD207 Gene

Regulatory Elements for CD207 Gene

Proteins for CD207 Gene

  • Protein details for CD207 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJ71-CLC4K_HUMAN
    Recommended name:
    C-type lectin domain family 4 member K
    Protein Accession:
    Q9UJ71
    Secondary Accessions:

    Protein attributes for CD207 Gene

    Size:
    328 amino acids
    Molecular mass:
    36725 Da
    Quaternary structure:
    • Homotrimer.

    Three dimensional structures from OCA and Proteopedia for CD207 Gene

neXtProt entry for CD207 Gene

Proteomics data for CD207 Gene at MOPED

Post-translational modifications for CD207 Gene

  • Glycosylation at Asn87, Asn113, and Asn180

Other Protein References for CD207 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CD207 Gene

Domains for CD207 Gene

Gene Families for CD207 Gene

HGNC:
  • CD :CD molecules
  • CLEC :C-type lectin domain containing

Protein Domains for CD207 Gene

UniProtKB/Swiss-Prot:

CLC4K_HUMAN
Domain:
  • The C-type lectin domain mediates dual recognition of both sulfated and mannosylated glycans.:
    • Q9UJ71
  • Contains 1 C-type lectin domain.:
    • Q9UJ71
genes like me logo Genes that share domains with CD207: view

Function for CD207 Gene

Molecular function for CD207 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for CD207 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005537 mannose binding TAS 10661407
GO:0030246 carbohydrate binding IDA 20026605
genes like me logo Genes that share ontologies with CD207: view
genes like me logo Genes that share phenotypes with CD207: view

Animal Models for CD207 Gene

MGI Knock Outs for CD207:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for CD207 Gene

Localization for CD207 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD207 Gene

Membrane; Single-pass type II membrane protein. Note=Found in Birbeck granules (BGs), which are organelles consisting of superimposed and zippered membranes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CD207 Gene COMPARTMENTS Subcellular localization image for CD207 gene
Compartment Confidence
endosome 4
plasma membrane 4
cytosol 2
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CD207 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016021 integral component of membrane IEA --
GO:0030139 endocytic vesicle TAS 10661407
GO:0030669 clathrin-coated endocytic vesicle membrane TAS --
GO:0031901 early endosome membrane TAS --
genes like me logo Genes that share ontologies with CD207: view

Pathways for CD207 Gene

genes like me logo Genes that share pathways with CD207: view

Interacting Proteins for CD207 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000386378%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000447173%0d%0a
Selected Interacting proteins: ENSP00000386378 for CD207 Gene via STRING

Gene Ontology (GO) - Biological Process for CD207 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS --
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0042590 antigen processing and presentation of exogenous peptide antigen via MHC class I TAS --
GO:0051607 defense response to virus IDA 17334373
genes like me logo Genes that share ontologies with CD207: view

Compounds for CD207 Gene

(1) HMDB Compounds for CD207 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(2) Novoseek inferred chemical compound relationships for CD207 Gene

Compound -log(P) Hits PubMed IDs
mannose 63.5 14
polysaccharide 19.8 5
genes like me logo Genes that share compounds with CD207: view

Transcripts for CD207 Gene

mRNA/cDNA for CD207 Gene

(4) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CD207 Gene

CD207 molecule, langerin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CD207 Gene

No ASD Table

Relevant External Links for CD207 Gene

GeneLoc Exon Structure for
CD207
ECgene alternative splicing isoforms for
CD207

Expression for CD207 Gene

mRNA expression in normal human tissues for CD207 Gene

mRNA differential expression in normal tissues according to GTEx for CD207 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (18.2), Skin - Sun Exposed (Lower leg) (17.5), and Esophagus - Mucosa (4.5).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for CD207 Gene

SOURCE GeneReport for Unigene cluster for CD207 Gene Hs.199731

mRNA Expression by UniProt/SwissProt for CD207 Gene

Q9UJ71-CLC4K_HUMAN
Tissue specificity: Exclusively expressed by Langerhans cells. Expressed in astrocytoma and malignant ependymoma, but not in normal brain tissues.
genes like me logo Genes that share expressions with CD207: view

Orthologs for CD207 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CD207 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CD207 36
  • 99.09 (n)
  • 98.48 (a)
CD207 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CD207 36
  • 79.31 (n)
  • 69.42 (a)
CD207 37
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CD207 37
  • 55 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cd207 36
  • 75.26 (n)
  • 67.7 (a)
Cd207 16
Cd207 37
  • 66 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CD207 37
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 42 (a)
ManyToMany
-- 37
  • 43 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Cd207 36
  • 74.04 (n)
  • 64.17 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 20 (a)
ManyToMany
-- 37
  • 37 (a)
ManyToMany
-- 37
  • 28 (a)
ManyToMany
-- 37
  • 30 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101730984 36
  • 51.91 (n)
  • 45.08 (a)
zebrafish
(Danio rerio)
Actinopterygii CD207 37
  • 21 (a)
OneToMany
Species with no ortholog for CD207:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CD207 Gene

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

Paralogs for CD207 Gene

Selected SIMAP similar genes for CD207 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CD207: view

Variants for CD207 Gene

Sequence variations from dbSNP and Humsavar for CD207 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs741326 - 70,831,704(-) AAGTG(C/T)GAGGT missense, reference
rs1544650 -- 70,829,784(+) GGACC(C/T)TAATG downstream-variant-500B
rs1544651 -- 70,829,950(+) AGCTA(G/T)AGACT downstream-variant-500B
rs1548893 -- 70,829,821(+) CTCCT(C/G)TCTGT downstream-variant-500B
rs2075225 -- 70,835,936(+) CTCCC(A/G)TCCTC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CD207 Gene

Variant ID Type Subtype PubMed ID
nsv874252 CNV Loss 21882294

Relevant External Links for CD207 Gene

HapMap Linkage Disequilibrium report
CD207
Human Gene Mutation Database (HGMD)
CD207

Disorders for CD207 Gene

(1) OMIM Diseases for CD207 Gene (604862)

UniProtKB/Swiss-Prot

CLC4K_HUMAN
  • 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. {ECO:0000269 PubMed:15816828}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for CD207 Gene

(7) Novoseek inferred disease relationships for CD207 Gene

Disease -log(P) Hits PubMed IDs
langerhans cell histiocytosis 78.7 13
histiocytosis 66.9 1
sarcoma 35.5 6
infectious disease 0.852 3
necrosis 0 1

Relevant External Links for CD207

Human Genome Epidemiology (HuGE) Navigator
CD207
genes like me logo Genes that share disorders with CD207: view

Publications for CD207 Gene

  1. Langerin, a novel C-type lectin specific to Langerhans cells, is an endocytic receptor that induces the formation of Birbeck granules. (PMID: 10661407) Valladeau J. … Saeland S. (Immunity 2000) 2 3 4 23
  2. A lack of Birbeck granules in Langerhans cells is associated with a naturally occurring point mutation in the human Langerin gene. (PMID: 15816828) Verdijk P. … Tensen C.P. (J. Invest. Dermatol. 2005) 3 4 23
  3. Polymorphisms in human langerin affect stability and sugar binding activity. (PMID: 16567809) Ward E.M. … Taylor M.E. (J. Biol. Chem. 2006) 3 4 23
  4. Langerin is a natural barrier to HIV-1 transmission by Langerhans cells. (PMID: 17334373) de Witte L. … Geijtenbeek T.B. (Nat. Med. 2007) 3 4 23
  5. Langerin/CD207 sheds light on formation of Birbeck granules and their possible function in Langerhans cells. (PMID: 14610287) Valladeau J. … Saeland S. (Immunol. Res. 2003) 3 4 23

Products for CD207 Gene

Sources for CD207 Gene

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