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| TissGeneSummary for C2 |
 Gene summary |
| Basic gene information | Gene symbol | C2 |
| Gene name | complement component 2 | |
| Synonyms | ARMD14|CO2 | |
| Cytomap | UCSC genome browser: 6p21.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000063.5, NM_001145903.2,NM_001178063.2,NM_001282457.1,NM_001282458.1, NM_001282459.1, | |
| Description | C3/C5 convertasecomplement C2complement component C2 | |
| Modification date | 20141221 | |
| dbXrefs | MIM : 613927 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000166278 | ||
| HPRD : 08939 | ||
| Vega : OTTHUMG00000031190 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_C2 | |
| BioGPS: 717 | ||
| Pathway | NCI Pathway Interaction Database: C2 | |
| KEGG: C2 | ||
| REACTOME: C2 | ||
| Pathway Commons: C2 | ||
| Context | iHOP: C2 | |
| ligand binding site mutation search in PubMed: C2 | ||
| UCL Cancer Institute: C2 | ||
| Assigned class in TissGDB* | C | |
| Included tissue-specific gene expression resources | TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | LiverSoft tissue | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | LIHCSARC | |
| Reference showing the relevant tissue of C2 | ||
| Description by TissGene annotations | ||
| * Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO term | PubMed ID |
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| TissGeneExp for C2 |
| Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
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| Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
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| Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| - Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
| Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
| LUSC | 2.236407152 | 4.766897349 | -2.530490196 | 5.30E-20 | 6.33E-19 |
| COAD | 3.393706247 | 1.600479324 | 1.793226923 | 5.25E-10 | 6.15E-09 |
| LUAD | 3.089453197 | 4.706142852 | -1.616689655 | 4.63E-12 | 3.39E-11 |
| PRAD | 1.469450478 | 0.161631247 | 1.307819231 | 4.79E-06 | 2.92E-05 |
| KIRC | 2.410047594 | -0.52816074 | 2.938208333 | 4.89E-14 | 2.30E-13 |
| KIRP | 0.987956969 | -0.627821156 | 1.615778125 | 0.00436 | 0.010399064 |
| HNSC | 0.958943815 | -0.300760837 | 1.259704651 | 0.000139 | 0.000597992 |
| STAD | 2.577885094 | 0.754466344 | 1.82341875 | 5.42E-05 | 0.000463482 |
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| TissGene-miRNA for C2 |
| Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
| Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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| TissGeneMut for C2 |
| TissGeneSNV for C2 |
| nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
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| Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
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| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.L685F | SKCM | 2 |
| p.M354I | ESCA | 1 |
| p.P482S | SKCM | 1 |
| p.G500E | SKCM | 1 |
| p.E606* | UCEC | 1 |
| p.Q353K | KIRP | 1 |
| p.D119N | SKCM | 1 |
| p.C600Y | LIHC | 1 |
| p.D138N | SKCM | 1 |
| p.S20N | LUAD | 1 |
| p.Q693R | LUAD | 1 |
| p.E228K | SKCM | 1 |
| p.P451L | SKCM | 1 |
| p.P86S | BRCA | 1 |
| p.E275K | SKCM | 1 |
| p.M735V | LUAD | 1 |
| p.M306I | CHOL | 1 |
| p.R11Q | SKCM | 1 |
| p.E69K | SKCM | 1 |
| p.H199Y | SKCM | 1 |
| p.P306L | SKCM | 1 |
| p.G380D | READ | 1 |
| p.D145N | SKCM | 1 |
| p.A25S | STAD | 1 |
| p.G332E | SKCM | 1 |
| p.I730S | LGG | 1 |
| p.V308L | LUAD | 1 |
| p.A28T | COAD | 1 |
| p.I598S | LGG | 1 |
| p.R176H | UCEC | 1 |
| p.L104M | ESCA | 1 |
| p.R124W | PRAD | 1 |
| p.Y347C | OV | 1 |
| p.L600F | SKCM | 1 |
| p.L271V | CESC | 1 |
| p.R309K | BLCA | 1 |
| p.R73C | SKCM | 1 |
| p.R726P | UCS | 1 |
| p.P59L | SKCM | 1 |
| p.A340V | SKCM | 1 |
| p.S643F | KIRC | 1 |
| p.R16Q | SKCM | 1 |
| p.R726Q | STAD | 1 |
| p.S409F | SKCM | 1 |
| p.P15T | PAAD | 1 |
| p.S307P | LIHC | 1 |
| p.P101L | SKCM | 1 |
| p.R166L | THYM | 1 |
| p.R2C | STAD | 1 |
| p.T184M | STAD | 1 |
| p.K297N | READ | 1 |
| p.L732F | SKCM | 1 |
| p.R726Q | SKCM | 1 |
| p.F557Y | LGG | 1 |
| p.C705Y | HNSC | 1 |
| p.E135K | SKCM | 1 |
| p.R378C | THCA | 1 |
| p.V319M | LGG | 1 |
| p.L63M | LIHC | 1 |
| p.I30V | COAD | 1 |
| p.A341V | PAAD | 1 |
| p.E319* | UCEC | 1 |
| p.S247C | SKCM | 1 |
| p.F689Y | LGG | 1 |
| p.P674H | ESCA | 1 |
| p.F12L | SKCM | 1 |
| p.H37L | SKCM | 1 |
| p.A91V | COAD | 1 |
| p.Y78S | THCA | 1 |
| p.E143K | SKCM | 1 |
| p.E200K | SKCM | 1 |
| p.E538K | SKCM | 1 |
| p.T68M | COAD | 1 |
| p.E502D | COAD | 1 |
| p.E267K | SKCM | 1 |
| p.D710N | BLCA | 1 |
| p.L308F | SKCM | 1 |
| p.S54F | SKCM | 1 |
| p.R309K | SKCM | 1 |
| p.E324K | LIHC | 1 |
| p.K498N | READ | 1 |
| p.T200M | LAML | 1 |
| p.R129C | ESCA | 1 |
| p.A314T | SKCM | 1 |
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| TissGeneCNV for C2 |
| Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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| TissGeneFusions for C2 |
| Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
| Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
| Chimerdb3.0 | ChiTaRs | NA | CD367463 | MRPL44-C2 | chr2:224832425 | chr6:3234793 |
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| TissGeneNet for C2 |
| Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
| BRCA (tumor) | BRCA (normal) |
| C2, HNF4A, ONECUT1, HNF1A, C5, PSMA4, MASP1, C3 (tumor) | C2, HNF4A, ONECUT1, HNF1A, C5, PSMA4, MASP1, C3 (normal) |
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| COAD (tumor) | COAD (normal) |
| C2, HNF4A, ONECUT1, HNF1A, C5, PSMA4, MASP1, C3 (tumor) | C2, HNF4A, ONECUT1, HNF1A, C5, PSMA4, MASP1, C3 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| C2, HNF4A, ONECUT1, HNF1A, C5, PSMA4, MASP1, C3 (tumor) | C2, HNF4A, ONECUT1, HNF1A, C5, PSMA4, MASP1, C3 (normal) |
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| KICH (tumor) | KICH (normal) |
| C2, HNF4A, ONECUT1, HNF1A, C5, PSMA4, MASP1, C3 (tumor) | C2, HNF4A, ONECUT1, HNF1A, C5, PSMA4, MASP1, C3 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| C2, HNF4A, ONECUT1, HNF1A, C5, PSMA4, MASP1, C3 (tumor) | C2, HNF4A, ONECUT1, HNF1A, C5, PSMA4, MASP1, C3 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| C2, HNF4A, ONECUT1, HNF1A, C5, PSMA4, MASP1, C3 (tumor) | C2, HNF4A, ONECUT1, HNF1A, C5, PSMA4, MASP1, C3 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| C2, HNF4A, ONECUT1, HNF1A, C5, PSMA4, MASP1, C3 (tumor) | C2, HNF4A, ONECUT1, HNF1A, C5, PSMA4, MASP1, C3 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| C2, HNF4A, ONECUT1, HNF1A, C5, PSMA4, MASP1, C3 (tumor) | C2, HNF4A, ONECUT1, HNF1A, C5, PSMA4, MASP1, C3 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| C2, HNF4A, ONECUT1, HNF1A, C5, PSMA4, MASP1, C3 (tumor) | C2, HNF4A, ONECUT1, HNF1A, C5, PSMA4, MASP1, C3 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| C2, HNF4A, ONECUT1, HNF1A, C5, PSMA4, MASP1, C3 (tumor) | C2, HNF4A, ONECUT1, HNF1A, C5, PSMA4, MASP1, C3 (normal) |
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| STAD (tumor) | STAD (normal) |
| C2, HNF4A, ONECUT1, HNF1A, C5, PSMA4, MASP1, C3 (tumor) | C2, HNF4A, ONECUT1, HNF1A, C5, PSMA4, MASP1, C3 (normal) |
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| THCA (tumor) | THCA (normal) |
| C2, HNF4A, ONECUT1, HNF1A, C5, PSMA4, MASP1, C3 (tumor) | C2, HNF4A, ONECUT1, HNF1A, C5, PSMA4, MASP1, C3 (normal) |
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| TissGeneProg for C2 |
| Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
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| Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| TissGeneClin for C2 |
| TissGeneDrug for C2 |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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| TissGeneDisease for C2 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0242383 | Age related macular degeneration | 24 | BeFree,CTD_human,GAD,GWASCAT,LHGDN |
| umls:C0024141 | Lupus Erythematosus, Systemic | 9 | BeFree,GAD,GWASCAT |
| umls:C0272242 | Complement deficiency disease | 3 | BeFree |
| umls:C0002395 | Alzheimer's Disease | 2 | BeFree |
| umls:C0008521 | Choroid Diseases | 2 | GAD |
| umls:C0035312 | Retinal Drusen | 2 | GAD |
| umls:C0085096 | Peripheral Vascular Diseases | 2 | GAD |
| umls:C0600518 | Choroidal Neovascularization | 2 | GAD |
| umls:C3150275 | COMPLEMENT COMPONENT 2 DEFICIENCY | 2 | CLINVAR,CTD_human,UNIPROT |
| umls:C0003873 | Rheumatoid Arthritis | 1 | BeFree |
| umls:C0004114 | Astrocytoma | 1 | BeFree |
| umls:C0004153 | Atherosclerosis | 1 | GAD |
| umls:C0004364 | Autoimmune Diseases | 1 | BeFree |
| umls:C0010051 | Coronary Aneurysm | 1 | GAD |
| umls:C0010068 | Coronary heart disease | 1 | GAD |
| umls:C0010356 | Cross Infection | 1 | GAD |
| umls:C0011633 | Dermatomyositis | 1 | CTD_human |
| umls:C0011849 | Diabetes Mellitus | 1 | BeFree |
| umls:C0011854 | Diabetes Mellitus, Insulin-Dependent | 1 | GAD |
| umls:C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | GAD |
| umls:C0017661 | IGA Glomerulonephritis | 1 | CTD_human |
| umls:C0019243 | Angioedemas, Hereditary | 1 | BeFree |
| umls:C0019693 | HIV Infections | 1 | GAD |
| umls:C0021390 | Inflammatory Bowel Diseases | 1 | GAD |
| umls:C0022408 | Arthropathy | 1 | BeFree |
| umls:C0023976 | Long QT Syndrome | 1 | GAD |
| umls:C0024305 | Lymphoma, Non-Hodgkin | 1 | GAD |
| umls:C0025517 | Metabolic Diseases | 1 | BeFree |
| umls:C0026691 | Mucocutaneous Lymph Node Syndrome | 1 | GAD |
| umls:C0026769 | Multiple Sclerosis | 1 | GAD |
| umls:C0026896 | Myasthenia Gravis | 1 | BeFree |
| umls:C0033578 | Prostatic Neoplasms | 1 | GAD |
| umls:C0035309 | Retinal Diseases | 1 | GAD |
| umls:C0041234 | Chagas Disease | 1 | BeFree |
| umls:C0042798 | Low Vision | 1 | GAD |
| umls:C0162429 | Malnutrition | 1 | BeFree |
| umls:C1258104 | Diffuse Scleroderma | 1 | BeFree,GAD |
| umls:C1536085 | Geographic Atrophy | 1 | GAD |
| umls:C1701940 | Pneumonia, Ventilator-Associated | 1 | GAD |
| umls:C2237660 | exudative macular degeneration | 1 | GAD |
| umls:C2239176 | Liver carcinoma | 1 | GAD |
| umls:C3714514 | Infection | 1 | LHGDN |
| umls:C1864205 | Macular Degeneration, Age-Related, 1 | 0 | CTD_human |
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