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mutLBSgeneDB |
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| Gene summary for CLEC4C |
 Gene summary |
| Basic gene Info. | Gene symbol | CLEC4C |
| Gene name | C-type lectin domain family 4, member C | |
| Synonyms | BDCA2|CD303|CLECSF11|CLECSF7|DLEC|HECL|PRO34150 | |
| Cytomap | UCSC genome browser: 12p13.2-p12.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_130441.2, NM_203503.1, | |
| Description | BDCA-2C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 11C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7C-type lectin domain family 4 member CC-type lectin superfamily memb | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 606677 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000198178 | ||
| HPRD : 09453 | ||
| Vega : OTTHUMG00000168441 | ||
| Protein | UniProt: Q8WTT0 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CLEC4C | |
| BioGPS: 170482 | ||
| Pathway | NCI Pathway Interaction Database: CLEC4C | |
| KEGG: CLEC4C | ||
| REACTOME: CLEC4C | ||
| Pathway Commons: CLEC4C | ||
| Context | iHOP: CLEC4C | |
| ligand binding site mutation search in PubMed: CLEC4C | ||
| UCL Cancer Institute: CLEC4C | ||
| 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 |
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| Ligand binding site mutations for CLEC4C |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | E178 | R179L | LUSC | 2 | S139,N137 | S138Y | COAD | 1 | N137 | R136I | COAD | 1 | E178 | R179H | COAD | 1 | S139,N137 | S138Y | HNSC | 1 | R186 | R186C | SKCM | 1 | N137 | R136K | SKCM | 1 | E178 | R179C | 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 CLEC4C |
| 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 | E178 | R179H | -2.0390215 | E178 | R179C | -1.7317286 | E178 | R179L | -1.4578319 | N137 | R136K | -1.2205809 | N137 | R136I | -0.80753074 | R186 | R186C | -0.79552132 | N137 | S138Y | -0.36439187 | S139 | S138Y | -0.36439187 |
| (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 CLEC4C from PDB |
| PDB ID | PDB title | PDB structure | 4ZES | Blood dendritic cell antigen 2 (BDCA-2) complexed with methyl-mannoside |  |
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| Differential gene expression and gene-gene network for CLEC4C |
| 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 CLEC4C |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CLEC4C |
| 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 CLEC4C go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | MMA | METHYL ALPHA-D-MANNOPYRANOSIDE | 4zes | A | E178 | CA | CALCIUM(2+) | 4zes | A | E178 | CA | CALCIUM(2+) | 4zes | B | E178 | CA | CALCIUM(2+) | 4zet | A | E178 | CA | CALCIUM(2+) | 4zet | B | E178 | MMA | METHYL ALPHA-D-MANNOPYRANOSIDE | 4zes | B | E178 R186 | GAL | BETA-D-GALACTOSE | 4zet | A | N137 S139 | GAL | BETA-D-GALACTOSE | 4zet | B | N137 S139 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 4zet | B | R186 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 4zet | A | S139 R186 |
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| Conservation information for LBS of CLEC4C |
| Multiple alignments for Q8WTT0 in multiple species |
| LBS | AA sequence | # species | Species |
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