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mutLBSgeneDB |
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| Gene summary for CD207 |
 Gene summary |
| Basic gene Info. | Gene symbol | CD207 |
| Gene name | CD207 molecule, langerin | |
| Synonyms | CLEC4K | |
| Cytomap | UCSC genome browser: 2p13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_015717.4, | |
| Description | C-type lectin domain family 4 member KC-type lectin domain family 4, member KCD207 antigen, langerinLangerhans cell specific c-type lectin | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 604862 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000116031 | ||
| HPRD : 07278 | ||
| Vega : OTTHUMG00000153176 | ||
| Protein | UniProt: Q9UJ71 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CD207 | |
| BioGPS: 50489 | ||
| Pathway | NCI Pathway Interaction Database: CD207 | |
| KEGG: CD207 | ||
| REACTOME: CD207 | ||
| Pathway Commons: CD207 | ||
| Context | iHOP: CD207 | |
| ligand binding site mutation search in PubMed: CD207 | ||
| UCL Cancer Institute: CD207 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0051607 | defense response to virus | 17334373 |
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| Ligand binding site mutations for CD207 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | Y208 | F206L | BRCA | 1 | P283 | P283S | SKCM | 1 | K313 | K313T | UCEC | 1 | K299 | K299N | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for CD207 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | P283 | P283S | -0.96737345 | K299 | K299N | -0.86763441 | K313 | K313T | -0.54412904 | Y208 | F206L | -0.37265436 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for CD207 from PDB |
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| Differential gene expression and gene-gene network for CD207 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for CD207 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C3150657 | BIRBECK GRANULE DEFICIENCY | 1 | GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CD207 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CD207 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | MAN | ALPHA-D-MANNOSE | 3p5d | A | K299 | MAN | ALPHA-D-MANNOSE | 3p5d | B | K299 | MAN | ALPHA-D-MANNOSE | 3p5d | C | K299 | MAN | ALPHA-D-MANNOSE | 3p5d | D | K299 | MAN | ALPHA-D-MANNOSE | 3p5e | A | K299 | MAN | ALPHA-D-MANNOSE | 3p5e | B | K299 | MAN | ALPHA-D-MANNOSE | 3p5e | C | K299 | MAN | ALPHA-D-MANNOSE | 3p5e | D | K299 | MAN | ALPHA-D-MANNOSE | 3p5f | A | K299 | MAN | ALPHA-D-MANNOSE | 3p5f | C | K299 | MAN | ALPHA-D-MANNOSE | 3p5f | C | K299 | MAN | ALPHA-D-MANNOSE | 3p5f | D | K299 | FUC | ALPHA-L-FUCOPYRANOSE | 3p5g | A | K299 | FUC | ALPHA-L-FUCOPYRANOSE | 3p5g | C | K299 | BGC | BETA-D-GLUCOSE | 3p5h | D | K299 | MAN | ALPHA-D-MANNOSE | 3p7g | A | K299 | MAN | ALPHA-D-MANNOSE | 3p7g | B | K299 | MAN | ALPHA-D-MANNOSE | 3p7g | C | K299 | MAL | MALTOSE | 3p7h | B | K299 | 2F8 | METHYL 2-(ACETYLAMINO)-2-DEOXY-ALPHA-D-GLUCOPYRANOSIDE | 4n32 | B | K299 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 4n33 | A | K299 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 4n33 | B | K299 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 4n33 | C | K299 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 4n33 | D | K299 | 2F8 | METHYL 2-(ACETYLAMINO)-2-DEOXY-ALPHA-D-GLUCOPYRANOSIDE | 4n34 | B | K299 | 2F8 | METHYL 2-(ACETYLAMINO)-2-DEOXY-ALPHA-D-GLUCOPYRANOSIDE | 4n34 | C | K299 | 2F8 | METHYL 2-(ACETYLAMINO)-2-DEOXY-ALPHA-D-GLUCOPYRANOSIDE | 4n34 | D | K299 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 4n35 | A | K299 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 4n35 | B | K299 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 4n35 | C | K299 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 4n35 | D | K299 | 2F8 | METHYL 2-(ACETYLAMINO)-2-DEOXY-ALPHA-D-GLUCOPYRANOSIDE | 4n36 | B | K299 | 2F8 | METHYL 2-(ACETYLAMINO)-2-DEOXY-ALPHA-D-GLUCOPYRANOSIDE | 4n36 | C | K299 | MMA | METHYL ALPHA-D-MANNOPYRANOSIDE | 4n37 | A | K299 | MMA | METHYL ALPHA-D-MANNOPYRANOSIDE | 4n37 | B | K299 | MMA | METHYL ALPHA-D-MANNOPYRANOSIDE | 4n37 | C | K299 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 4n38 | A | K299 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 4n38 | B | K299 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 4n38 | C | K299 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 4n38 | D | K299 | G6S | D-GALACTOSE-6-SULFATE | 3p5i | A | K299 K313 | G6S | D-GALACTOSE-6-SULFATE | 3p5i | B | K299 K313 | G6S | D-GALACTOSE-6-SULFATE | 3p5i | C | K299 K313 | G6S | D-GALACTOSE-6-SULFATE | 3p5i | D | K299 K313 | 2F8 | METHYL 2-(ACETYLAMINO)-2-DEOXY-ALPHA-D-GLUCOPYRANOSIDE | 4n32 | D | K299 K313 | GLA | ALPHA-D-GALACTOSE | 3p5g | A | P283 | GLA | ALPHA-D-GALACTOSE | 3p5g | B | P283 | MG | MAGNESIUM(2+) | 3c22 | A | Y208 | MG | MAGNESIUM(2+) | 3c22 | B | Y208 | MG | MAGNESIUM(2+) | 3c22 | C | Y208 | MG | MAGNESIUM(2+) | 3c22 | D | Y208 | MG | MAGNESIUM(2+) | 4ak8 | A | Y208 | MG | MAGNESIUM(2+) | 4ak8 | B | Y208 | MG | MAGNESIUM(2+) | 4ak8 | C | Y208 | MG | MAGNESIUM(2+) | 4ak8 | D | Y208 |
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| Conservation information for LBS of CD207 |
| Multiple alignments for Q9UJ71 in multiple species |
| LBS | AA sequence | # species | Species |
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