CD207 (CD207 molecule)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
50489
Gene name Gene Name - the full gene name approved by the HGNC.
CD207 molecule
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CD207
Synonyms (NCBI Gene) Gene synonyms aliases
CLEC4K
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p13.3
Summary Summary of gene provided in NCBI Entrez 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 super
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs200837270 A>G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(110)
miRTarBase ID miRNA Experiments Reference
MIRT453670 hsa-miR-3173-3p PAR-CLIP 20371350
MIRT453669 hsa-miR-6891-5p PAR-CLIP 20371350
MIRT453668 hsa-miR-5739 PAR-CLIP 20371350
MIRT453665 hsa-miR-7854-3p PAR-CLIP 20371350
MIRT453664 hsa-miR-765 PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25910212, 32296183
GO:0005537 Function D-mannose binding TAS 10661407
GO:0005886 Component Plasma membrane TAS
GO:0006955 Process Immune response IBA
GO:0009897 Component External side of plasma membrane IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604862 17935 ENSG00000116031
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9UJ71
Protein name C-type lectin domain family 4 member K (Langerin) (CD antigen CD207)
Protein 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
PDB 3C22 , 3KQG , 3P5D , 3P5E , 3P5F , 3P5G , 3P5H , 3P5I , 3P7F , 3P7G , 3P7H , 4AK8 , 4N32 , 4N33 , 4N34 , 4N35 , 4N36 , 4N37 , 4N38 , 5G6U , 7WZ8 , 7YTQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00059 Lectin_C 212 → 321 Lectin C-type domain Domain
Tissue specificity TISSUE SPECIFICITY: Exclusively expressed by Langerhans cells. Expressed in astrocytoma and malignant ependymoma, but not in normal brain tissues. {ECO:0000269|PubMed:10661407, ECO:0000269|PubMed:20026605}.
Sequence 
MTVEKEAPDAHFTVDKQNISLWPREPPPKSGPSLVPGKTPTVRAALICLTLVLVASVLLQ
AVLYPRFMGTISDVKTNVQLLKGRVDNISTLDSEIKKNSDGMEAAGVQIQMVNESLGYVR
SQFLKLKTSVEKANAQIQILTRSWEEVSTLNAQIPELKSDLEKASALNTKIRALQGSLEN
MSKLLKRQNDILQVVSQGWKYFKGNFYYFSLIPKTWYSAEQFCVSRNSHLTSVTSESEQE
FLYKTAGGLIYWIGLTKAGMEGDWSWVDDTPFNKVQSVRFWIPGEPNNAGNNEHCGNIKA
PSLQAWNDAPCDKTFLFICKRPYVPSEP
Sequence length 328
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Cross-presentation of soluble exogenous antigens (endosomes)
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Birbeck Granule Deficiency birbeck granule deficiency N/A N/A ClinVar
Dermatitis Atopic dermatitis N/A N/A GWAS
Show/Hide Text Mining Associations (23)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 10562317
Carcinoma Hepatocellular Associate 32292405
Colitis Ulcerative Inhibit 24347371
COVID 19 Associate 35239653
Death Associate 35239653
Dermoid Cyst Associate 26666851
Epidermal Cyst Associate 26666851
Erythema Nodosum Associate 24487271
Hepatitis C Inhibit 32292405
Histiocytosis Langerhans Cell Associate 17378241, 20220088, 21654633, 27729324, 27760550, 28847997, 30405183, 31493367, 31899802, 32238382, 34619771, 35768149