Human Gene CD207 (ENST00000410009.5) from GENCODE V44
  Description: Homo sapiens CD207 molecule (CD207), mRNA. (from RefSeq NM_015717)
RefSeq Summary (NM_015717): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Gencode Transcript: ENST00000410009.5
Gencode Gene: ENSG00000116031.9
Transcript (Including UTRs)
   Position: hg38 chr2:70,830,211-70,835,816 Size: 5,606 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg38 chr2:70,831,050-70,835,776 Size: 4,727 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:70,830,211-70,835,816)mRNA (may differ from genome)Protein (328 aa)
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-  Comments and Description Text from UniProtKB
  ID: CLC4K_HUMAN
DESCRIPTION: RecName: Full=C-type lectin domain family 4 member K; AltName: Full=Langerin; AltName: CD_antigen=CD207;
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.
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.
TISSUE SPECIFICITY: Exclusively expressed by Langerhans cells. Expressed in astrocytoma and malignant ependymoma, but not in normal brain tissues.
DOMAIN: The C-type lectin domain mediates dual recognition of both sulfated and mannosylated glycans.
DISEASE: 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.
SIMILARITY: Contains 1 C-type lectin domain.
WEB RESOURCE: Name=Functional Glycomics Gateway - Glycan Binding; Note=Langerin; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_00126";

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: CD207
Diseases sorted by gene-association score: birbeck granule deficiency* (730), letterer-siwe disease (29), langerhans cell sarcoma (26), histiocytosis (25), malignant ependymoma (10), alk+ histiocytosis (10), histiocytic and dendritic cell cancer (10), cavernous sinus meningioma (9), central nervous system tuberculosis (9), lymphatic system disease (7), reticulohistiocytic granuloma (7), dendritic cell tumor (5), non-langerhans-cell histiocytosis (5), chediak-higashi syndrome (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.05 RPKM in Skin - Not Sun Exposed (Suprapubic)
Total median expression: 34.04 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -13.5040-0.338 Picture PostScript Text
3' UTR -261.10839-0.311 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001304 - C-type_lectin
IPR016186 - C-type_lectin-like
IPR018378 - C-type_lectin_CS
IPR016187 - C-type_lectin_fold
IPR010356 - Haemolysin_E

Pfam Domains:
PF00059 - Lectin C-type domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3C22 - X-ray MuPIT 3KQG - X-ray MuPIT 3P5D - X-ray MuPIT 3P5E - X-ray MuPIT 3P5F - X-ray MuPIT 3P5G - X-ray MuPIT 3P5H - X-ray MuPIT 3P5I - X-ray MuPIT 3P7F - X-ray MuPIT 3P7G - X-ray MuPIT 3P7H - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9UJ71
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsemblWormBase 
Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence 
AlignmentAlignmentAlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0005537 mannose binding
GO:0030246 carbohydrate binding

Biological Process:
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent
GO:0006898 receptor-mediated endocytosis
GO:0051607 defense response to virus

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030139 endocytic vesicle
GO:0030669 clathrin-coated endocytic vesicle membrane
GO:0031901 early endosome membrane


-  Descriptions from all associated GenBank mRNAs
  BC022278 - Homo sapiens CD207 molecule, langerin, mRNA (cDNA clone MGC:22374 IMAGE:4692155), complete cds.
AJ242859 - Homo sapiens mRNA for langerin protein.
JD287396 - Sequence 268420 from Patent EP1572962.
JD195299 - Sequence 176323 from Patent EP1572962.
JD187970 - Sequence 168994 from Patent EP1572962.
JD151454 - Sequence 132478 from Patent EP1572962.
JD099555 - Sequence 80579 from Patent EP1572962.
JD394799 - Sequence 375823 from Patent EP1572962.
JD161364 - Sequence 142388 from Patent EP1572962.
JD117461 - Sequence 98485 from Patent EP1572962.
JD451781 - Sequence 432805 from Patent EP1572962.
JD502738 - Sequence 483762 from Patent EP1572962.
JD528693 - Sequence 509717 from Patent EP1572962.
JD168222 - Sequence 149246 from Patent EP1572962.
JD068498 - Sequence 49522 from Patent EP1572962.
JD337271 - Sequence 318295 from Patent EP1572962.
JD251671 - Sequence 232695 from Patent EP1572962.
JD093836 - Sequence 74860 from Patent EP1572962.
JD052217 - Sequence 33241 from Patent EP1572962.
JD367364 - Sequence 348388 from Patent EP1572962.
JD103562 - Sequence 84586 from Patent EP1572962.
JD393495 - Sequence 374519 from Patent EP1572962.
JD424889 - Sequence 405913 from Patent EP1572962.
JD188303 - Sequence 169327 from Patent EP1572962.
JD261935 - Sequence 242959 from Patent EP1572962.
AK314927 - Homo sapiens cDNA, FLJ95836, highly similar to Homo sapiens CD207 antigen, langerin (CD207), mRNA.
KJ893750 - Synthetic construct Homo sapiens clone ccsbBroadEn_03144 CD207 gene, encodes complete protein.
KR711212 - Synthetic construct Homo sapiens clone CCSBHm_00021246 CD207 (CD207) mRNA, encodes complete protein.
KR711213 - Synthetic construct Homo sapiens clone CCSBHm_00021247 CD207 (CD207) mRNA, encodes complete protein.
KR711214 - Synthetic construct Homo sapiens clone CCSBHm_00021248 CD207 (CD207) mRNA, encodes complete protein.
KR712202 - Synthetic construct Homo sapiens clone CCSBHm_00900152 CD207 (CD207) mRNA, encodes complete protein.
KR712204 - Synthetic construct Homo sapiens clone CCSBHm_00900155 CD207 (CD207) mRNA, encodes complete protein.
KR712209 - Synthetic construct Homo sapiens clone CCSBHm_00900162 CD207 (CD207) mRNA, encodes complete protein.
DQ891964 - Synthetic construct clone IMAGE:100004594; FLH181877.01X; RZPDo839A03138D CD207 molecule, langerin (CD207) gene, encodes complete protein.
DQ895154 - Synthetic construct Homo sapiens clone IMAGE:100009614; FLH181873.01L; RZPDo839A03137D CD207 molecule, langerin (CD207) gene, encodes complete protein.
CU692528 - Synthetic construct Homo sapiens gateway clone IMAGE:100022197 5' read CD207 mRNA.
JD495830 - Sequence 476854 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UJ71 (Reactome details) participates in the following event(s):

R-HSA-1236939 Interaction of exogenous soluble antigen with its corresponding receptor
R-HSA-1236940 Exogenous soluble antigen targeted to more stable early endosome
R-HSA-1236941 Internalization of receptor bound antigen into clathrin coted vesicles
R-HSA-1236955 Movement of clathrin coated vesicles into early endosome
R-HSA-1236978 Cross-presentation of soluble exogenous antigens (endosomes)
R-HSA-1236975 Antigen processing-Cross presentation
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-1280218 Adaptive Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: CLC4K_HUMAN, CLEC4K, ENST00000410009.1, ENST00000410009.2, ENST00000410009.3, ENST00000410009.4, NM_015717, Q9UJ71, uc002shg.1, uc002shg.2, uc002shg.3, uc002shg.4, uc002shg.5
UCSC ID: ENST00000410009.5
RefSeq Accession: NM_015717
Protein: Q9UJ71 (aka CLC4K_HUMAN)
CCDS: CCDS74520.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.