Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CD207 Gene

Aliases for CD207 Gene

  • CD207 Molecule 2 3 5
  • CD207 Molecule, Langerin 2 3
  • CD207 Antigen, Langerin 2 3
  • CLEC4K 3 4
  • 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
  • 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 Letterer-Siwe Disease and Langerhans Cell Sarcoma. Among its related pathways are Immune System and Antigen processing-Cross presentation. GO annotations related to this gene include carbohydrate binding and mannose binding. An important paralog of this gene is CLEC4F.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F070850 1.4 FANTOM5 Ensembl ENCODE 39.7 -15.1 -15083 1.6 NBN TBX21 SPI1 CD207 VAX2 ATP6V1B1 ATP6V1B1-AS1 ADD2 FIGLA LINC01143
GH02F070509 1.1 FANTOM5 Ensembl ENCODE 13.8 +326.4 326429 1.5 CTCF GATA3 ZNF146 KLF9 KLF4 ZBTB20 TCF7L2 CD207 TGFA ASPRV1 FIGLA TGFA-IT1
GH02F070291 0.4 ENCODE 12.1 +543.4 543399 4.1 HDGF PKNOX1 ARNT CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 PCYOX1 TEX261 MPHOSPH10 PCBP1-AS1 CD207 C2orf42 GMCL1 PCBP1 CLEC4F NAGK
GH02F070102 0.2 ENCODE 12.1 +732.3 732314 2.8 HDGF ATF1 PKNOX1 ARNT ARID4B YBX1 DMAP1 YY1 GTF3C2 GATA2 CD207 TEX261 CLEC4F MXD1 SNRNP27 PCBP1-AS1 GC02P070112
GH02F070246 0.2 ENCODE 12.1 +588.3 588341 3.3 HDGF PKNOX1 ARNT MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 TEX261 PCBP1-AS1 CD207 GMCL1 CLEC4F C2orf42 NAGK ANKRD53 FAM136A GC02M070219
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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

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

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.

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 IEA,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:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030139 endocytic vesicle TAS 10661407
GO:0030669 clathrin-coated endocytic vesicle 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 Q9UJ71-CLC4K_HUMAN for CD207 Gene via STRING IID

Gene Ontology (GO) - Biological Process for CD207 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0006898 receptor-mediated endocytosis TAS --
GO:0051607 defense response to virus IDA 17334373
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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of CD207 Gene:

CD207

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
chimpanzee
(Pan troglodytes)
Mammalia CD207 34 35
  • 99.09 (n)
cow
(Bos Taurus)
Mammalia CD207 34 35
  • 79.31 (n)
mouse
(Mus musculus)
Mammalia Cd207 34 16 35
  • 75.26 (n)
rat
(Rattus norvegicus)
Mammalia Cd207 34
  • 74.04 (n)
dog
(Canis familiaris)
Mammalia CD207 35
  • 55 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CD207 35
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 43 (a)
ManyToMany
-- 35
  • 42 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 37 (a)
ManyToMany
-- 35
  • 30 (a)
ManyToMany
-- 35
  • 28 (a)
ManyToMany
-- 35
  • 20 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101730984 34
  • 51.91 (n)
zebrafish
(Danio rerio)
Actinopterygii CD207 35
  • 21 (a)
OneToMany
Species where no ortholog for CD207 was found in the sources mined by GeneCards:
  • 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

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
rs200837270 Birbeck granule deficiency (BIRGD) [MIM:613393], Pathogenic 70,831,747(+) GGACC(A/G)GTCCC reference, missense
rs10084246 -- 70,843,510(+) acttc(A/G)taaca intron-variant
rs10167562 -- 70,828,761(+) CCCAG(A/G)TTCAA intron-variant
rs10192040 -- 70,853,547(+) cattt(C/T)tacta intron-variant
rs10193839 -- 70,828,982(+) TTTCC(C/T)CTGCC intron-variant, downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
nsv1004459 CNV loss 25217958
nsv1146915 OTHER inversion 26484159

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD207

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

Disorders for CD207 Gene

MalaCards: The human disease database

(12) MalaCards diseases for CD207 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
letterer-siwe disease
  • langerhans-cell histiocytosis
langerhans cell sarcoma
  • malignant langerhans cell sarcoma
histiocytosis
  • chronic histiocytosis x
malignant ependymoma
  • ependymal neoplasm
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 22 64
  2. 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 4 22 64
  3. 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 4 22 64
  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 22 64
  5. Polymorphisms in human langerin affect stability and sugar binding activity. (PMID: 16567809) Ward E.M. … Taylor M.E. (J. Biol. Chem. 2006) 3 4 22 64

Products for CD207 Gene

Sources for CD207 Gene

Content
Loading form....