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Gene: PKD2 |
Gene summary for PKD2 |
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Gene information | Species | Human | Gene symbol | PKD2 | Gene ID | 5311 |
Gene name | polycystin 2, transient receptor potential cation channel | |
Gene Alias | APKD2 | |
Cytomap | 4q22.1 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | Q13563 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
5311 | PKD2 | HCC1_Meng | Human | Liver | HCC | 1.01e-26 | -8.42e-03 | 0.0246 |
5311 | PKD2 | HCC2_Meng | Human | Liver | HCC | 5.97e-04 | -3.47e-02 | 0.0107 |
5311 | PKD2 | cirrhotic3 | Human | Liver | Cirrhotic | 9.98e-04 | 7.40e-02 | 0.0215 |
5311 | PKD2 | HCC1 | Human | Liver | HCC | 8.63e-05 | 8.80e-01 | 0.5336 |
5311 | PKD2 | HCC2 | Human | Liver | HCC | 3.59e-06 | 2.05e+00 | 0.5341 |
5311 | PKD2 | Pt13.b | Human | Liver | HCC | 2.29e-03 | 1.75e-02 | 0.0251 |
5311 | PKD2 | S027 | Human | Liver | HCC | 1.46e-02 | 3.13e-01 | 0.2446 |
5311 | PKD2 | S028 | Human | Liver | HCC | 4.86e-07 | 3.02e-01 | 0.2503 |
5311 | PKD2 | RNA-P17T-P17T-4 | Human | Lung | IAC | 2.39e-03 | 5.27e-01 | 0.343 |
5311 | PKD2 | RNA-P17T-P17T-6 | Human | Lung | IAC | 1.19e-03 | 5.20e-01 | 0.3385 |
5311 | PKD2 | RNA-P17T-P17T-8 | Human | Lung | IAC | 9.56e-04 | 5.85e-01 | 0.3329 |
5311 | PKD2 | RNA-P25T1-P25T1-1 | Human | Lung | AIS | 7.77e-03 | 2.92e-01 | -0.2116 |
5311 | PKD2 | RNA-P6T2-P6T2-1 | Human | Lung | IAC | 7.68e-03 | 2.27e-01 | -0.0166 |
5311 | PKD2 | RNA-P6T2-P6T2-3 | Human | Lung | IAC | 5.31e-06 | 2.84e-01 | -0.013 |
5311 | PKD2 | HTA12-15-2 | Human | Pancreas | PDAC | 4.09e-08 | 3.83e-01 | 0.2315 |
5311 | PKD2 | HTA12-23-1 | Human | Pancreas | PDAC | 2.93e-09 | 8.09e-01 | 0.3405 |
5311 | PKD2 | HTA12-25-1 | Human | Pancreas | PDAC | 3.33e-07 | 5.69e-01 | 0.313 |
5311 | PKD2 | HTA12-26-1 | Human | Pancreas | PDAC | 5.25e-22 | 8.82e-01 | 0.3728 |
5311 | PKD2 | HTA12-29-1 | Human | Pancreas | PDAC | 1.83e-50 | 9.34e-01 | 0.3722 |
5311 | PKD2 | HTA12-30-1 | Human | Pancreas | PDAC | 3.91e-06 | 1.05e+00 | 0.3671 |
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∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
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Tissue | Disease Stage | Enriched GO biological Processes |
Colorectum | AD | ![]() |
Colorectum | SER | ![]() |
Colorectum | MSS | ![]() |
Colorectum | MSI-H | ![]() |
Colorectum | FAP | ![]() |
∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
Page: 1 2 3 4 5 6 7 8 9 |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000697912 | Liver | Cirrhotic | response to oxidative stress | 196/4634 | 446/18723 | 2.80e-19 | 5.86e-17 | 196 |
GO:000188912 | Liver | Cirrhotic | liver development | 81/4634 | 147/18723 | 2.99e-15 | 3.35e-13 | 81 |
GO:006100812 | Liver | Cirrhotic | hepaticobiliary system development | 82/4634 | 150/18723 | 3.72e-15 | 4.09e-13 | 82 |
GO:006219712 | Liver | Cirrhotic | cellular response to chemical stress | 147/4634 | 337/18723 | 1.84e-14 | 1.72e-12 | 147 |
GO:003459912 | Liver | Cirrhotic | cellular response to oxidative stress | 127/4634 | 288/18723 | 4.29e-13 | 3.32e-11 | 127 |
GO:001003812 | Liver | Cirrhotic | response to metal ion | 150/4634 | 373/18723 | 2.27e-11 | 1.37e-09 | 150 |
GO:000030212 | Liver | Cirrhotic | response to reactive oxygen species | 100/4634 | 222/18723 | 2.92e-11 | 1.73e-09 | 100 |
GO:00346147 | Liver | Cirrhotic | cellular response to reactive oxygen species | 70/4634 | 155/18723 | 2.27e-08 | 7.91e-07 | 70 |
GO:00017015 | Liver | Cirrhotic | in utero embryonic development | 134/4634 | 367/18723 | 2.78e-07 | 6.86e-06 | 134 |
GO:00451857 | Liver | Cirrhotic | maintenance of protein location | 46/4634 | 94/18723 | 3.31e-07 | 7.90e-06 | 46 |
GO:004873212 | Liver | Cirrhotic | gland development | 154/4634 | 436/18723 | 4.03e-07 | 9.42e-06 | 154 |
GO:005123511 | Liver | Cirrhotic | maintenance of location | 117/4634 | 327/18723 | 4.78e-06 | 7.86e-05 | 117 |
GO:00073463 | Liver | Cirrhotic | regulation of mitotic cell cycle | 154/4634 | 457/18723 | 8.73e-06 | 1.29e-04 | 154 |
GO:005159211 | Liver | Cirrhotic | response to calcium ion | 61/4634 | 149/18723 | 9.47e-06 | 1.38e-04 | 61 |
GO:001605511 | Liver | Cirrhotic | Wnt signaling pathway | 150/4634 | 444/18723 | 9.75e-06 | 1.42e-04 | 150 |
GO:019873811 | Liver | Cirrhotic | cell-cell signaling by wnt | 150/4634 | 446/18723 | 1.28e-05 | 1.80e-04 | 150 |
GO:007121411 | Liver | Cirrhotic | cellular response to abiotic stimulus | 115/4634 | 331/18723 | 2.62e-05 | 3.38e-04 | 115 |
GO:010400411 | Liver | Cirrhotic | cellular response to environmental stimulus | 115/4634 | 331/18723 | 2.62e-05 | 3.38e-04 | 115 |
GO:00018905 | Liver | Cirrhotic | placenta development | 57/4634 | 144/18723 | 5.74e-05 | 6.58e-04 | 57 |
GO:00712487 | Liver | Cirrhotic | cellular response to metal ion | 73/4634 | 197/18723 | 7.73e-05 | 8.54e-04 | 73 |
Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
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Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
PKD2 | SNV | Missense_Mutation | novel | c.1961G>A | p.Arg654Gln | p.R654Q | Q13563 | protein_coding | deleterious(0.01) | possibly_damaging(0.898) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
PKD2 | SNV | Missense_Mutation | novel | c.211N>A | p.Ala71Thr | p.A71T | Q13563 | protein_coding | deleterious_low_confidence(0.01) | benign(0.007) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
PKD2 | SNV | Missense_Mutation | novel | c.1528C>A | p.Leu510Met | p.L510M | Q13563 | protein_coding | deleterious(0) | possibly_damaging(0.74) | TCGA-EY-A215-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PKD2 | SNV | Missense_Mutation | novel | c.376N>C | p.Ala126Pro | p.A126P | Q13563 | protein_coding | tolerated(0.07) | benign(0) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
PKD2 | insertion | Frame_Shift_Ins | novel | c.2159dupA | p.Asn720LysfsTer5 | p.N720Kfs*5 | Q13563 | protein_coding | TCGA-BG-A222-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
PKD2 | insertion | Frame_Shift_Ins | novel | c.2151_2152insA | p.Asn720LysfsTer5 | p.N720Kfs*5 | Q13563 | protein_coding | TCGA-EY-A549-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
PKD2 | SNV | Missense_Mutation | novel | c.2783N>T | p.Gly928Val | p.G928V | Q13563 | protein_coding | tolerated(0.6) | benign(0.143) | TCGA-5C-A9VG-01 | Liver | liver hepatocellular carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
PKD2 | SNV | Missense_Mutation | rs775470869 | c.2428N>A | p.Asp810Asn | p.D810N | Q13563 | protein_coding | tolerated(0.11) | possibly_damaging(0.82) | TCGA-05-4410-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
PKD2 | SNV | Missense_Mutation | rs368926162 | c.2792C>T | p.Thr931Met | p.T931M | Q13563 | protein_coding | deleterious(0.01) | possibly_damaging(0.776) | TCGA-05-5428-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Chemotherapy | cisplatin | CR |
PKD2 | SNV | Missense_Mutation | novel | c.865N>C | p.Asp289His | p.D289H | Q13563 | protein_coding | deleterious(0) | probably_damaging(0.927) | TCGA-44-7661-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
5311 | PKD2 | DRUGGABLE GENOME, TUMOR SUPPRESSOR, ION CHANNEL, TRANSPORTER | allopurinol | ALLOPURINOL | 30924126 |
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