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Aliases for CD207 Gene

Aliases for CD207 Gene

  • CD207 Molecule 2 3
  • CD207 Molecule, Langerin 2 3 5
  • CD207 Antigen, Langerin 2 3
  • CLEC4K 3 4
  • C-Type Lectin Domain Family 4, Member K 3
  • Langerhans Cell Specific C-Type Lectin 3
  • CD207 Antigen 4
  • Langerin 4

External Ids for CD207 Gene

Previous GeneCards Identifiers for CD207 Gene

  • GC02M071015
  • GC02M071031
  • GC02M070969
  • GC02M071057
  • GC02M070793

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) is a Protein Coding gene. Diseases associated with CD207 include Birbeck Granule Deficiency and Langerhans Cell Sarcoma. Among its related pathways are Antigen processing- Ubiquitination and Proteasome degradation and Immune System. GO annotations related to this gene include carbohydrate binding and mannose binding. An important paralog of this gene is CLEC6A.

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

Regulatory Elements for CD207 Gene

Enhancers for CD207 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CD207 on UCSC Golden Path with GeneCards custom track

Genomic Location for CD207 Gene

Chromosome:
2
Start:
70,825,208 bp from pter
End:
70,836,601 bp from pter
Size:
11,394 bases
Orientation:
Minus strand

Genomic View for CD207 Gene

Genes around CD207 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD207 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD207 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

    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 Asn 87, Asn 113, and Asn 180
  • Modification sites at PhosphoSitePlus

Other Protein References for CD207 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for CD207 (Langerin/CD207)
  • Cell Signaling Technology (CST) Antibodies for CD207 (langerin)

No data available for DME Specific Peptides for CD207 Gene

Domains & Families for CD207 Gene

Protein Domains for CD207 Gene

Suggested Antigen Peptide Sequences for CD207 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UJ71

UniProtKB/Swiss-Prot:

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

Animal Models for CD207 Gene

MGI Knock Outs for CD207:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets 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 5
plasma membrane 5
cytosol 3
endoplasmic reticulum 1
extracellular 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CD207 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031901 early endosome membrane TAS --
genes like me logo Genes that share ontologies with CD207: view

Pathways & Interactions 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:0006898 receptor-mediated endocytosis TAS --
GO:0042590 antigen processing and presentation of exogenous peptide antigen via MHC class I TAS --
genes like me logo Genes that share ontologies with CD207: view

No data available for SIGNOR curated interactions for CD207 Gene

Drugs & Compounds for CD207 Gene

(1) Drugs for CD207 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(2) Additional Compounds for CD207 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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) (x18.2), Skin - Sun Exposed (Lower leg) (x17.5), and Esophagus - Mucosa (x4.5).

Protein differential expression in normal tissues from HIPED for CD207 Gene

This gene is overexpressed in Nasal epithelium (63.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CD207: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for CD207 Gene

Orthologs for CD207 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CD207 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CD207 35
  • 79.31 (n)
  • 69.42 (a)
CD207 36
  • 69 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cd207 35
  • 75.26 (n)
  • 67.7 (a)
Cd207 16
Cd207 36
  • 66 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CD207 35
  • 99.09 (n)
  • 98.48 (a)
CD207 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cd207 35
  • 74.04 (n)
  • 64.17 (a)
dog
(Canis familiaris)
Mammalia CD207 36
  • 55 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CD207 36
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 42 (a)
ManyToMany
-- 36
  • 43 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 20 (a)
ManyToMany
-- 36
  • 37 (a)
ManyToMany
-- 36
  • 28 (a)
ManyToMany
-- 36
  • 30 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101730984 35
  • 51.91 (n)
  • 45.08 (a)
zebrafish
(Danio rerio)
Actinopterygii CD207 36
  • 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

(2) 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
rs10489990 - 70,835,517(+) CGGAG(A/G)CGACC reference, missense
rs17006436 - 70,832,980(+) CTTTG(A/G)AATGA reference, missense
rs741326 - 70,831,704(-) AAGTG(C/G/T)GAGGT reference, missense
rs13383830 - 70,831,175(+) AGCAT(C/T)GTTGG intron-variant, reference, missense
rs17718987 - 70,833,805(+) GATCT(C/G)TGCGT reference, missense

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

Variant ID Type Subtype PubMed ID
nsv874252 CNV Loss 21882294

Variation tolerance for CD207 Gene

Gene Damage Index Score: 12.20; 93.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CD207 Gene

Human Gene Mutation Database (HGMD)
CD207

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CD207 Gene

Disorders for CD207 Gene

MalaCards: The human disease database

(14) MalaCards diseases for CD207 Gene - From: ClinVar, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
birbeck granule deficiency
  • absence of birbeck granules
langerhans cell sarcoma
  • malignant langerhans cell sarcoma
langerhans-cell histiocytosis
  • histiocytosis x
histiocytosis
  • chronic histiocytosis x
alk+ histiocytosis
  • anaplastic lymphoma kinase positive histiocytosis
- elite association - COSMIC cancer census association via MalaCards
Search CD207 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for CD207

Human Genome Epidemiology (HuGE) Navigator
CD207
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CD207
genes like me logo Genes that share disorders with CD207: view

No data available for Genatlas for CD207 Gene

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 67
  2. Dual specificity of langerin to sulfated and mannosylated glycans via a single C-type carbohydrate recognition domain. (PMID: 20026605) Tateno H. … Hirabayashi J. (J. Biol. Chem. 2010) 3 23
  3. C-type lectin Langerin is a beta-glucan receptor on human Langerhans cells that recognizes opportunistic and pathogenic fungi. (PMID: 20097424) de Jong M.A. … Geijtenbeek T.B. (Mol. Immunol. 2010) 3 23
  4. Trimeric structure of langerin. (PMID: 20181944) Feinberg H. … Weis W.I. (J. Biol. Chem. 2010) 3 23
  5. The carbohydrate recognition domain of Langerin reveals high structural similarity with the one of DC-SIGN but an additional, calcium-independent sugar-binding site. (PMID: 18061677) Chatwell L. … Skerra A. (Mol. Immunol. 2008) 3 23

Products for CD207 Gene

Sources for CD207 Gene

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