CD207 CD207 molecule [Homo sapiens (human)] - Gene

Summary

Official Symbol: CD207provided by HGNC
Official Full Name: CD207 moleculeprovided by HGNC
Primary source: HGNC:HGNC:17935
See related: Ensembl:ENSG00000116031 MIM:604862; AllianceGenome:HGNC:17935
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CLEC4K
Summary: 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]
Expression: Biased expression in skin (RPKM 26.1), esophagus (RPKM 6.2) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 2p13.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (70824130..70835816, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (70835151..70871919, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (71057342..71062946, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Origin of langerin (CD207)-expressing antigen presenting cells in the normal oral mucosa and in oral lichen planus lesions.
Title: Origin of langerin (CD207)-expressing antigen presenting cells in the normal oral mucosa and in oral lichen planus lesions.
The molecular basis for the pH-dependent calcium affinity of the pattern recognition receptor langerin.
Title: The molecular basis for the pH-dependent calcium affinity of the pattern recognition receptor langerin.
Langerin (CD207) represents a novel interferon-stimulated gene in Langerhans cells.
Title: Langerin (CD207) represents a novel interferon-stimulated gene in Langerhans cells.
A Common Genetic Variation in Langerin (CD207) Compromises Cellular Uptake of Staphylococcus aureus.
Title: A Common Genetic Variation in Langerin (CD207) Compromises Cellular Uptake of Staphylococcus aureus.
Binding analysis between purified long and short forms of langerin and a series of keratin sulfate disaccharide components shows that the binding critically requires the 6-sulfation of Gal and that the long form of langerin displays higher affinity than the short form.
Title: High affinity sugar ligands of C-type lectin receptor langerin.
CD207(+)CD1a(+) cells are circulating in patients with active Langerhans cell histiocytosis, and TSLP and TGF-beta are potential drivers of Langerhans-like cells in vivo.
Title: CD207(+)CD1a(+) cells circulate in pediatric patients with active Langerhans cell histiocytosis.
the data provide evidence that human Langerhans cells are able to cross-present antigens after langerin-mediated internalization.
Title: Langerin-mediated internalization of a modified peptide routes antigens to early endosomes and enhances cross-presentation by human Langerhans cells.
Calcium-independent activation of an allosteric network in langerin by heparin oligosaccharides has been reported.
Title: Calcium-Independent Activation of an Allosteric Network in Langerin by Heparin Oligosaccharides.
Bacterial Polysaccharide Specificity of the Pattern Recognition Receptor Langerin Is Highly Species-dependent
Title: Bacterial Polysaccharide Specificity of the Pattern Recognition Receptor Langerin Is Highly Species-dependent.
Kinetic and Structural Studies of Interactions between Glycosaminoglycans and Langerin
Title: Kinetic and Structural Studies of Interactions between Glycosaminoglycans and Langerin.

Submit: New GeneRIF Correction See all GeneRIFs (48)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Birbeck granule deficiency MedGen: C3150657 OMIM: 613393 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 binds to B cells through mannose C-type lectin receptors (MCLRs), such as DC-SIGN, mannose receptor, and langerin	PubMed
Envelope surface glycoprotein gp160, precursor	env	Purified HIV-1 gp140 binds to langerin trimers on the surface of epidermal Langerhans cells via the carbohydrate recognition domain (amino-acid residues 250-310) in a Ca2+-dependent manner	PubMed
capsid	gag	HIV-1 CA co-localizes with langerin and caveolin-1 at the cell membrane of human Langerhans cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables D-mannose binding	TAS Traceable Author Statement more info	PubMed
enables carbohydrate binding	IBA Inferred from Biological aspect of Ancestor more info
enables carbohydrate binding	IDA Inferred from Direct Assay more info	PubMed
enables pattern recognition receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in defense response to virus	IDA Inferred from Direct Assay more info	PubMed
involved_in immune response	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in clathrin-coated endocytic vesicle membrane	TAS Traceable Author Statement more info
located_in early endosome membrane	TAS Traceable Author Statement more info
located_in endocytic vesicle	TAS Traceable Author Statement more info	PubMed
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: C-type lectin domain family 4 member K

Names: C-type lectin domain family 4, member K; CD207 antigen, langerin; CD207 molecule, langerin; Langerhans cell specific c-type lectin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_033914.1 RefSeqGene

Range

5008..10613

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_015717.5 → NP_056532.4 C-type lectin domain family 4 member K

See identical proteins and their annotated locations for NP_056532.4

Status: REVIEWED

Source sequence(s)

AC007395, AJ242859, BX104865

Consensus CDS

CCDS74520.1

UniProtKB/Swiss-Prot

Q9UJ71

UniProtKB/TrEMBL

B2RC37

Related

ENSP00000386378.3, ENST00000410009.5

Conserved Domains (1) summary

cd03590
Location:196 → 321

CLECT_DC-SIGN_like; C-type lectin-like domain (CTLD) of the type found in human dendritic cell (DC)-specific intercellular adhesion molecule 3-grabbing non-integrin (DC-SIGN) and the related receptor, DC-SIGN receptor (DC-SIGNR)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

70824130..70835816 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011532876.3 → XP_011531178.1 C-type lectin domain family 4 member K isoform X2

UniProtKB/TrEMBL

B2RC37

Conserved Domains (1) summary

cd03590
Location:196 → 277

CLECT_DC-SIGN_like; C-type lectin-like domain (CTLD) of the type found in human dendritic cell (DC)-specific intercellular adhesion molecule 3-grabbing non-integrin (DC-SIGN) and the related receptor, DC-SIGN receptor (DC-SIGNR)
XM_011532875.3 → XP_011531177.1 C-type lectin domain family 4 member K isoform X1

UniProtKB/TrEMBL

B2RC37

Conserved Domains (2) summary

cd03590
Location:196 → 283

CLECT_DC-SIGN_like; C-type lectin-like domain (CTLD) of the type found in human dendritic cell (DC)-specific intercellular adhesion molecule 3-grabbing non-integrin (DC-SIGN) and the related receptor, DC-SIGN receptor (DC-SIGNR)

cl09111
Location:125 → 175

Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

70835151..70871919 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054342315.1 → XP_054198290.1 C-type lectin domain family 4 member K isoform X2
XM_054342313.1 → XP_054198288.1 C-type lectin domain family 4 member K isoform X3
XM_054342314.1 → XP_054198289.1 C-type lectin domain family 4 member K isoform X1