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... See more...

Aliases for CD207 Gene

Aliases for CD207 Gene

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

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 Histiocytosis. Among its related pathways are Class I MHC mediated antigen processing and presentation and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and mannose binding. An important paralog of this gene is CLEC4F.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CD207 Gene

Genomics for CD207 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CD207 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J070900 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 250.3 -40.3 -40314 2.6 EZH2 ZNF600 CEBPA NFIC ZIC2 CHD4 ZBTB10 MXD4 REST KLF11 VAX2 ENSG00000277764 HSALNG0015842 CD207 CLEC4F HSALNG0015844 ATP6V1B1
GH02J070835 Promoter/Enhancer 0.9 EPDnew Ensembl 254.8 +25.1 25086 0.6 IKZF1 TAL1 SPI1 TCF12 TEAD4 ARID1B CBFA2T2 CTBP1 CBFA2T3 CD207 LINC01143 HSALNG0015837 piR-55194-195 CLEC4F
GH02J070861 Enhancer 0.8 ENCODE 250.7 -1.2 -1219 0.2 ZNF654 IKZF1 CTCF REST DEK TRIM22 RAD21 SMC3 TEAD3 SIN3A CD207 lnc-CD207-1 piR-35674-280 TEX261 ANKRD53 lnc-CD207-3 VAX2
GH02J070850 Enhancer 0.9 FANTOM5 Ensembl ENCODE 40 +8.0 7986 4.8 BCLAF1 IRF4 EBF1 BATF ATF2 IKZF1 SPI1 IKZF2 NBN RUNX3 CD207 ATP6V1B1 VAX2 ATP6V1B1-AS1 ADD2 CLEC4F FIGLA piR-55194-195 lnc-CD207-1
GH02J071062 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.2 -207.8 -207818 11.8 BCLAF1 SP1 ZNF207 IKZF1 ZNF600 SSRP1 ZNF592 KLF9 POLR2A ZNF10 NAGK ENSG00000272735 HSALNG0015861 HSALNG0015862 TIA1 TEX261 ZNF638 CLEC4F MPHOSPH10 CD207
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CD207 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CD207

Top Transcription factor binding sites by QIAGEN in the CD207 gene promoter:
  • AML1a
  • FOXD3
  • HNF-3beta
  • LyF-1
  • Meis-1
  • Meis-1a
  • Meis-1b
  • Nkx5-1
  • Pax-4a
  • SRY

Genomic Locations for CD207 Gene

Latest Assembly
chr2:70,825,248-70,860,787
(GRCh38/hg38)
Size:
35,540 bases
Orientation:
Minus strand

Previous Assembly
chr2:71,057,342-71,062,946
(GRCh37/hg19 by Entrez Gene)
Size:
5,605 bases
Orientation:
Minus strand

chr2:71,057,347-71,062,952
(GRCh37/hg19 by Ensembl)
Size:
5,606 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 Asn87, Asn113, and Asn180
  • Modification sites at PhosphoSitePlus

Other Protein References for CD207 Gene

Antibodies for research

No data available for DME Specific Peptides for CD207 Gene

Domains & Families for CD207 Gene

Gene Families for CD207 Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Disease related genes
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for CD207 Gene

GenScript: Design optimal peptide antigens:
  • Langerin (CLC4K_HUMAN)

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.
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.

Phenotypes From GWAS Catalog for CD207 Gene

Gene Ontology (GO) - Molecular Function for CD207 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25910212
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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD207

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CD207 gene
Compartment Confidence
plasma membrane 5
endosome 4
cytosol 3
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
lysosome 2
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

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

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

(2) Drugs for CD207 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6959

(1) 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

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD207

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

No ASD Table

Relevant External Links for CD207 Gene

GeneLoc Exon Structure 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for CD207 Gene

  • Lung(4.3)
  • Lymph node(3.5)
  • Skin(3.4)
  • Spleen(2.9)
  • Blood(2.5)
  • Bone marrow(2.3)
genes like me logo Genes that share expression patterns with CD207: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 29 30
  • 99.09 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CD207 29 30
  • 79.31 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cd207 29 16 30
  • 75.26 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cd207 29
  • 74.04 (n)
Dog
(Canis familiaris)
Mammalia CD207 30
  • 55 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CD207 30
  • 48 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 43 (a)
ManyToMany
-- 30
  • 42 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 37 (a)
ManyToMany
-- 30
  • 30 (a)
ManyToMany
-- 30
  • 28 (a)
ManyToMany
-- 30
  • 20 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC101730984 29
  • 51.91 (n)
Zebrafish
(Danio rerio)
Actinopterygii CD207 30
  • 21 (a)
OneToMany
Species where no ortholog for CD207 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for CD207: view image
Alliance of Genome Resources:
Additional Orthologs for CD207

Paralogs for CD207 Gene

(2) SIMAP similar genes for CD207 Gene using alignment to 1 proteins:

  • CLC4K_HUMAN
genes like me logo Genes that share paralogs with CD207: view

Variants for CD207 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CD207 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs11450450 Benign: not specified 70,835,702(-) G/GC
NM_015717.4(CD207):c.73dup (p.Glu25Glyfs)
rs200837270 Pathogenic: Birbeck granule deficiency. Birbeck granule deficiency (BIRGD) [MIM:613393] 70,831,747(-) A/Gp.Trp264Arg
NM_015717.5(CD207):c.790T>C (p.Trp264Arg)
MISSENSE
rs72911708 Benign: not provided 70,834,014(-) C/T
NM_015717.5(CD207):c.197G>A (p.Arg66Gln)
MISSENSE
rs782591870 Uncertain Significance: Birbeck granule deficiency 70,833,809(-) G/A
NM_015717.5(CD207):c.402C>T (p.Asn134=)
SYNONYMOUS
rs10489990 -- p.Ala55Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CD207 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for CD207 Gene

Human Gene Mutation Database (HGMD)
CD207
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD207
Leiden Open Variation Database (LOVD)
CD207

SNP Genotyping and Copy Number Assays for research

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

Disorders for CD207 Gene

MalaCards: The human disease database

(15) MalaCards diseases for CD207 Gene - From: OMI, CVR, GTR, SWI, COP, and GCD

Disorder Aliases PubMed IDs
birbeck granule deficiency
  • birbeck granules, absence of
langerhans cell histiocytosis
  • lch
langerhans cell sarcoma
  • malignant langerhans cell sarcoma
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, ECO:0000269 PubMed:16567809}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CD207

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

No data available for Genatlas for CD207 Gene

Publications for CD207 Gene

  1. Polymorphisms in human langerin affect stability and sugar binding activity. (PMID: 16567809) Ward EM … Taylor ME (The Journal of biological chemistry 2006) 3 4 22 72
  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 CP (The Journal of investigative dermatology 2005) 3 4 22 72
  3. 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
  4. Dual specificity of Langerin to sulfated and mannosylated glycans via a single C-type carbohydrate recognition domain. (PMID: 20026605) Tateno H … Hirabayashi J (The Journal of biological chemistry 2010) 3 4 22
  5. C-type lectin Langerin is a beta-glucan receptor on human Langerhans cells that recognizes opportunistic and pathogenic fungi. (PMID: 20097424) de Jong MA … Geijtenbeek TB (Molecular immunology 2010) 3 4 22

Products for CD207 Gene

Sources for CD207 Gene