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| TissGeneSummary for PAX2 |
 Gene summary |
| Basic gene information | Gene symbol | PAX2 |
| Gene name | paired box 2 | |
| Synonyms | FSGS7|PAPRS | |
| Cytomap | UCSC genome browser: 10q24 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000278.3, NM_003987.3,NM_003988.3,NM_003989.3,NM_003990.3, | |
| Description | paired box homeotic gene 2paired box protein Pax-2 | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 167409 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000075891 | ||
| HPRD : 01330 | ||
| Vega : OTTHUMG00000018913 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PAX2 | |
| BioGPS: 5076 | ||
| Pathway | NCI Pathway Interaction Database: PAX2 | |
| KEGG: PAX2 | ||
| REACTOME: PAX2 | ||
| Pathway Commons: PAX2 | ||
| Context | iHOP: PAX2 | |
| ligand binding site mutation search in PubMed: PAX2 | ||
| UCL Cancer Institute: PAX2 | ||
| 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) | Kidney | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | KIRC,KIRP,KICH | |
| Reference showing the relevant tissue of PAX2 | ||
| Description by TissGene annotations | Protective TissGene in OS Protective TissGene in RFS Cancer gene TissgsKTS CNV lost TissGeneKTS | |
| * 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 | GO:0043066 | negative regulation of apoptotic process | 10980123 | GO:0043154 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 10980123 | GO:0045893 | positive regulation of transcription, DNA-templated | 16368682 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 16735463 | GO:0050679 | positive regulation of epithelial cell proliferation | 17357786 | GO:2000378 | negative regulation of reactive oxygen species metabolic process | 17357786 | GO:0043066 | negative regulation of apoptotic process | 10980123 | GO:0043154 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 10980123 | GO:0045893 | positive regulation of transcription, DNA-templated | 16368682 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 16735463 | GO:0050679 | positive regulation of epithelial cell proliferation | 17357786 | GO:2000378 | negative regulation of reactive oxygen species metabolic process | 17357786 |
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| TissGeneExp for PAX2 |
| 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 |
| BRCA | -0.374718881 | -1.839017127 | 1.464298246 | 5.20E-08 | 1.60E-07 |
| LUSC | -2.59894014 | -3.642457787 | 1.043517647 | 0.0013 | 0.002374371 |
| KICH | 3.900287154 | 7.052911154 | -3.152624 | 3.68E-05 | 0.000104385 |
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| TissGene-miRNA for PAX2 |
| 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 |
| ACC | hsa-miR-362-3p | MIMAT0004683 | 0.028 | -0.28 | 78 |
| ACC | hsa-miR-362-3p | MIMAT0004683 | 0.028 | -0.28 | 78 |
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| TissGeneMut for PAX2 |
| TissGeneSNV for PAX2 |
| 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.R266W | SKCM | 2 |
| p.S184F | SKCM | 2 |
| p.R356K | SKCM | 1 |
| p.H148L | LUAD | 1 |
| p.A365V | PAAD | 1 |
| p.T297S | SKCM | 1 |
| p.K202E | LGG | 1 |
| p.E314Q | BLCA | 1 |
| p.E281K | SKCM | 1 |
| p.Y353D | LUAD | 1 |
| p.E290K | HNSC | 1 |
| p.E207K | SKCM | 1 |
| p.N179D | COAD | 1 |
| p.A406T | STAD | 1 |
| p.R195L | LUAD | 1 |
| p.E101* | HNSC | 1 |
| p.D278N | UCEC | 1 |
| p.G378E | SKCM | 1 |
| p.V36L | LUAD | 1 |
| p.D8H | LUSC | 1 |
| p.S55F | SKCM | 1 |
| p.R399L | LUAD | 1 |
| p.G369S | STAD | 1 |
| p.P372L | SKCM | 1 |
| p.G19S | LUAD | 1 |
| p.P343L | LUAD | 1 |
| p.R104* | GBM | 1 |
| p.R403L | THYM | 1 |
| p.A342V | PAAD | 1 |
| p.R248Q | BLCA | 1 |
| p.R379K | SKCM | 1 |
| p.N312S | SKCM | 1 |
| p.G217E | SKCM | 1 |
| p.R308H | BRCA | 1 |
| p.T297N | LUAD | 1 |
| p.V230A | LUAD | 1 |
| p.R252Q | SKCM | 1 |
| p.V26M | LIHC | 1 |
| p.D301N | UCEC | 1 |
| p.M333K | LUAD | 1 |
| p.P88H | BLCA | 1 |
| p.R416H | UCEC | 1 |
| p.P354T | UCEC | 1 |
| p.Q241H | LUSC | 1 |
| p.R225W | READ | 1 |
| p.S395F | HNSC | 1 |
| p.P343L | SKCM | 1 |
| p.L221F | LUAD | 1 |
| p.N318K | LUSC | 1 |
| p.P385T | LUAD | 1 |
| p.D245G | STAD | 1 |
| p.Q258H | LUAD | 1 |
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| TissGeneCNV for PAX2 |
| 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 PAX2 |
| 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 |
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| TissGeneNet for PAX2 |
| 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) |
| PAX2, TP53, MAPK8, BBS1, TCF4, PAXIP1, MAPK8IP1, RB1, ID2, BBS2, BBS4, WT1, BBS7, SFRP2 (tumor) | PAX2, TP53, MAPK8, BBS1, TCF4, PAXIP1, MAPK8IP1, RB1, ID2, BBS2, BBS4, WT1, BBS7, SFRP2 (normal) |
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| COAD (tumor) | COAD (normal) |
| PAX2, TP53, MAPK8, BBS1, TCF4, PAXIP1, MAPK8IP1, RB1, ID2, BBS2, BBS4, WT1, BBS7, SFRP2 (tumor) | PAX2, TP53, MAPK8, BBS1, TCF4, PAXIP1, MAPK8IP1, RB1, ID2, BBS2, BBS4, WT1, BBS7, SFRP2 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| PAX2, TP53, MAPK8, BBS1, TCF4, PAXIP1, MAPK8IP1, RB1, ID2, BBS2, BBS4, WT1, BBS7, SFRP2 (tumor) | PAX2, TP53, MAPK8, BBS1, TCF4, PAXIP1, MAPK8IP1, RB1, ID2, BBS2, BBS4, WT1, BBS7, SFRP2 (normal) |
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| KICH (tumor) | KICH (normal) |
| PAX2, TP53, MAPK8, BBS1, TCF4, PAXIP1, MAPK8IP1, RB1, ID2, BBS2, BBS4, WT1, BBS7, SFRP2 (tumor) | PAX2, TP53, MAPK8, BBS1, TCF4, PAXIP1, MAPK8IP1, RB1, ID2, BBS2, BBS4, WT1, BBS7, SFRP2 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| PAX2, TP53, MAPK8, BBS1, TCF4, PAXIP1, MAPK8IP1, RB1, ID2, BBS2, BBS4, WT1, BBS7, SFRP2 (tumor) | PAX2, TP53, MAPK8, BBS1, TCF4, PAXIP1, MAPK8IP1, RB1, ID2, BBS2, BBS4, WT1, BBS7, SFRP2 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| PAX2, TP53, MAPK8, BBS1, TCF4, PAXIP1, MAPK8IP1, RB1, ID2, BBS2, BBS4, WT1, BBS7, SFRP2 (tumor) | PAX2, TP53, MAPK8, BBS1, TCF4, PAXIP1, MAPK8IP1, RB1, ID2, BBS2, BBS4, WT1, BBS7, SFRP2 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| PAX2, TP53, MAPK8, BBS1, TCF4, PAXIP1, MAPK8IP1, RB1, ID2, BBS2, BBS4, WT1, BBS7, SFRP2 (tumor) | PAX2, TP53, MAPK8, BBS1, TCF4, PAXIP1, MAPK8IP1, RB1, ID2, BBS2, BBS4, WT1, BBS7, SFRP2 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| PAX2, TP53, MAPK8, BBS1, TCF4, PAXIP1, MAPK8IP1, RB1, ID2, BBS2, BBS4, WT1, BBS7, SFRP2 (tumor) | PAX2, TP53, MAPK8, BBS1, TCF4, PAXIP1, MAPK8IP1, RB1, ID2, BBS2, BBS4, WT1, BBS7, SFRP2 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| PAX2, TP53, MAPK8, BBS1, TCF4, PAXIP1, MAPK8IP1, RB1, ID2, BBS2, BBS4, WT1, BBS7, SFRP2 (tumor) | PAX2, TP53, MAPK8, BBS1, TCF4, PAXIP1, MAPK8IP1, RB1, ID2, BBS2, BBS4, WT1, BBS7, SFRP2 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| PAX2, TP53, MAPK8, BBS1, TCF4, PAXIP1, MAPK8IP1, RB1, ID2, BBS2, BBS4, WT1, BBS7, SFRP2 (tumor) | PAX2, TP53, MAPK8, BBS1, TCF4, PAXIP1, MAPK8IP1, RB1, ID2, BBS2, BBS4, WT1, BBS7, SFRP2 (normal) |
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| STAD (tumor) | STAD (normal) |
| PAX2, TP53, MAPK8, BBS1, TCF4, PAXIP1, MAPK8IP1, RB1, ID2, BBS2, BBS4, WT1, BBS7, SFRP2 (tumor) | PAX2, TP53, MAPK8, BBS1, TCF4, PAXIP1, MAPK8IP1, RB1, ID2, BBS2, BBS4, WT1, BBS7, SFRP2 (normal) |
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| THCA (tumor) | THCA (normal) |
| PAX2, TP53, MAPK8, BBS1, TCF4, PAXIP1, MAPK8IP1, RB1, ID2, BBS2, BBS4, WT1, BBS7, SFRP2 (tumor) | PAX2, TP53, MAPK8, BBS1, TCF4, PAXIP1, MAPK8IP1, RB1, ID2, BBS2, BBS4, WT1, BBS7, SFRP2 (normal) |
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| TissGeneProg for PAX2 |
| 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 PAX2 |
| TissGeneDrug for PAX2 |
| 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 PAX2 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C1852759 | Papillorenal syndrome | 34 | BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT |
| umls:C0027708 | Nephroblastoma | 15 | BeFree,RGD |
| umls:C0007134 | Renal Cell Carcinoma | 13 | BeFree,LHGDN |
| umls:C0000768 | Congenital Abnormality | 10 | BeFree |
| umls:C0596263 | Carcinogenesis | 10 | BeFree |
| umls:C0042580 | Vesico-Ureteral Reflux | 8 | BeFree,GAD |
| umls:C0266292 | Congenital anomaly of the kidney | 6 | BeFree |
| umls:C0266295 | Congenital hypoplasia of kidney | 6 | BeFree |
| umls:C0009363 | Congenital ocular coloboma (disorder) | 5 | BeFree |
| umls:C0022658 | Kidney Diseases | 5 | BeFree |
| umls:C0022665 | Kidney Neoplasm | 5 | BeFree,LHGDN |
| umls:C0027627 | Neoplasm Metastasis | 5 | BeFree |
| umls:C0376358 | Malignant neoplasm of prostate | 5 | BeFree |
| umls:C0600139 | Prostate carcinoma | 5 | BeFree |
| umls:C0006142 | Malignant neoplasm of breast | 4 | BeFree |
| umls:C0010709 | Cyst | 4 | BeFree |
| umls:C0155299 | Coloboma of optic disc | 4 | BeFree |
| umls:C0476089 | Endometrial Carcinoma | 4 | BeFree |
| umls:C0678222 | Breast Carcinoma | 4 | BeFree |
| umls:C0007103 | Malignant neoplasm of endometrium | 3 | BeFree |
| umls:C0035078 | Kidney Failure | 3 | BeFree |
| umls:C1378703 | Renal carcinoma | 3 | BeFree |
| umls:C1883486 | Uterine Corpus Cancer | 3 | BeFree |
| umls:C3536714 | Renal dysplasia | 3 | BeFree |
| umls:C0001418 | Adenocarcinoma | 2 | BeFree |
| umls:C0022661 | Kidney Failure, Chronic | 2 | BeFree,CTD_human |
| umls:C0022680 | Polycystic Kidney Diseases | 2 | BeFree |
| umls:C0027697 | Nephritis | 2 | BeFree |
| umls:C0034152 | Henoch-Schoenlein Purpura | 2 | BeFree |
| umls:C0041956 | Ureteral obstruction | 2 | BeFree |
| umls:C0085413 | Polycystic Kidney, Autosomal Dominant | 2 | BeFree |
| umls:C0235989 | Renal interstitial fibrosis | 2 | BeFree |
| umls:C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | 2 | BeFree |
| umls:C0333497 | Segmental glomerulosclerosis | 2 | BeFree |
| umls:C0740457 | Malignant neoplasm of kidney | 2 | BeFree |
| umls:C1968949 | Cakut | 2 | BeFree |
| umls:C4014925 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 | 2 | UNIPROT |
| umls:C0001430 | Adenoma | 1 | LHGDN |
| umls:C0005684 | Malignant neoplasm of urinary bladder | 1 | BeFree |
| umls:C0007102 | Malignant tumor of colon | 1 | BeFree |
| umls:C0009404 | Colorectal Neoplasms | 1 | BeFree |
| umls:C0011881 | Diabetic Nephropathy | 1 | RGD |
| umls:C0014175 | Endometriosis | 1 | BeFree,CTD_human |
| umls:C0014511 | Epithelial cyst | 1 | BeFree |
| umls:C0014859 | Esophageal Neoplasms | 1 | BeFree |
| umls:C0019562 | Von Hippel-Lindau Syndrome | 1 | BeFree |
| umls:C0020255 | Hydrocephalus | 1 | BeFree |
| umls:C0022679 | Cystic kidney | 1 | BeFree |
| umls:C0022681 | Medullary sponge kidney | 1 | BeFree |
| umls:C0023418 | leukemia | 1 | BeFree |
| umls:C0023440 | Acute Erythroblastic Leukemia | 1 | BeFree |
| umls:C0025202 | melanoma | 1 | BeFree |
| umls:C0026499 | Monosomy | 1 | BeFree |
| umls:C0027341 | Nail-Patella Syndrome | 1 | BeFree |
| umls:C0033578 | Prostatic Neoplasms | 1 | BeFree |
| umls:C0035126 | Reperfusion Injury | 1 | RGD |
| umls:C0036220 | Kaposi Sarcoma | 1 | LHGDN |
| umls:C0039101 | synovial sarcoma | 1 | BeFree |
| umls:C0152018 | Esophageal carcinoma | 1 | BeFree |
| umls:C0154823 | Retinal defect | 1 | BeFree |
| umls:C0158698 | Congenital malformation of the urinary system | 1 | BeFree |
| umls:C0162809 | Kallmann Syndrome | 1 | BeFree |
| umls:C0178879 | Urinary tract obstruction | 1 | BeFree |
| umls:C0206701 | Cystadenocarcinoma, Serous | 1 | BeFree |
| umls:C0235831 | Renal Cell Dysplasia | 1 | BeFree |
| umls:C0265234 | Branchio-Oto-Renal Syndrome | 1 | BeFree |
| umls:C0266449 | Congenital anomaly of brain | 1 | BeFree |
| umls:C0268164 | Primary hyperoxaluria, type I | 1 | BeFree |
| umls:C0268747 | Diffuse mesangial sclerosis (disorder) | 1 | BeFree |
| umls:C0268800 | Simple renal cyst | 1 | BeFree |
| umls:C0279626 | Squamous cell carcinoma of esophagus | 1 | BeFree |
| umls:C0332910 | bilateral agenesis | 1 | BeFree |
| umls:C0376545 | Hematologic Neoplasms | 1 | BeFree |
| umls:C0546837 | Malignant neoplasm of esophagus | 1 | BeFree |
| umls:C0686619 | Secondary malignant neoplasm of lymph node | 1 | BeFree |
| umls:C0699790 | Colon Carcinoma | 1 | BeFree |
| umls:C0699885 | Carcinoma of bladder | 1 | BeFree |
| umls:C0879615 | Stromal Neoplasm | 1 | BeFree |
| umls:C0919267 | ovarian neoplasm | 1 | BeFree |
| umls:C0920646 | Renal ischaemia | 1 | BeFree |
| umls:C0949541 | Hurthle Cell Tumor | 1 | BeFree |
| umls:C0950121 | Denys-Drash Syndrome | 1 | BeFree |
| umls:C1153706 | Endometrial adenocarcinoma | 1 | BeFree |
| umls:C1261473 | Sarcoma | 1 | BeFree |
| umls:C1335177 | Ovarian Serous Adenocarcinoma | 1 | BeFree |
| umls:C1378050 | Oncocytic Neoplasm | 1 | BeFree |
| umls:C1458155 | Mammary Neoplasms | 1 | BeFree |
| umls:C1510502 | Oxyphilic Adenoma | 1 | BeFree |
| umls:C1513269 | Microcysts | 1 | BeFree |
| umls:C1516170 | Cancer Cell Growth | 1 | BeFree |
| umls:C1565489 | Renal Insufficiency | 1 | BeFree,LHGDN |
| umls:C1567742 | Alport Syndrome, X-Linked | 1 | BeFree |
| umls:C1569637 | Adenocarcinoma, Endometrioid | 1 | BeFree |
| umls:C1619700 | RENAL ADYSPLASIA | 1 | BeFree |
| umls:C1654637 | androgen independent prostate cancer | 1 | BeFree |
| umls:C1704272 | Benign Prostatic Hyperplasia | 1 | BeFree |
| umls:C1709661 | Primary Focal Segmental Glomerulosclerosis | 1 | BeFree |
| umls:C1720887 | Female Urogenital Diseases | 1 | CTD_human |
| umls:C2721603 | Henoch-Schonlein purpura nephritis | 1 | GAD |
| umls:C3665489 | Ovarian low malignant potential tumour | 1 | BeFree |
| umls:C3714581 | Multicystic Dysplastic Kidney | 1 | BeFree |
| umls:C3839280 | High grade serous carcinoma | 1 | BeFree |
| umls:C0431692 | Bilateral renal hypoplasia | 0 | ORPHANET |
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