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Gene: MTMR2 |
Gene summary for MTMR2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | MTMR2 | Gene ID | 8898 |
| Gene name | myotubularin related protein 2 | |
| Gene Alias | CMT4B | |
| Cytomap | 11q21 | |
| Gene Type | protein-coding | GO ID | GO:0002090 | UniProtAcc | A0A024R3B7 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 8898 | MTMR2 | LZE4T | Human | Esophagus | ESCC | 3.61e-03 | 1.55e-01 | 0.0811 |
| 8898 | MTMR2 | LZE7T | Human | Esophagus | ESCC | 4.47e-04 | 1.81e-01 | 0.0667 |
| 8898 | MTMR2 | LZE24T | Human | Esophagus | ESCC | 3.76e-07 | 3.35e-01 | 0.0596 |
| 8898 | MTMR2 | P2T-E | Human | Esophagus | ESCC | 1.54e-20 | 1.99e-01 | 0.1177 |
| 8898 | MTMR2 | P4T-E | Human | Esophagus | ESCC | 2.27e-24 | 5.42e-01 | 0.1323 |
| 8898 | MTMR2 | P5T-E | Human | Esophagus | ESCC | 2.81e-14 | 2.05e-01 | 0.1327 |
| 8898 | MTMR2 | P8T-E | Human | Esophagus | ESCC | 1.56e-10 | 6.75e-02 | 0.0889 |
| 8898 | MTMR2 | P9T-E | Human | Esophagus | ESCC | 5.38e-05 | 1.73e-01 | 0.1131 |
| 8898 | MTMR2 | P10T-E | Human | Esophagus | ESCC | 3.00e-19 | 2.03e-01 | 0.116 |
| 8898 | MTMR2 | P11T-E | Human | Esophagus | ESCC | 4.45e-06 | 3.85e-01 | 0.1426 |
| 8898 | MTMR2 | P12T-E | Human | Esophagus | ESCC | 7.26e-19 | 3.45e-01 | 0.1122 |
| 8898 | MTMR2 | P15T-E | Human | Esophagus | ESCC | 8.24e-12 | 2.27e-01 | 0.1149 |
| 8898 | MTMR2 | P16T-E | Human | Esophagus | ESCC | 3.81e-13 | 3.48e-01 | 0.1153 |
| 8898 | MTMR2 | P17T-E | Human | Esophagus | ESCC | 1.72e-07 | 3.33e-01 | 0.1278 |
| 8898 | MTMR2 | P19T-E | Human | Esophagus | ESCC | 9.85e-10 | 4.78e-01 | 0.1662 |
| 8898 | MTMR2 | P20T-E | Human | Esophagus | ESCC | 5.48e-12 | 1.71e-01 | 0.1124 |
| 8898 | MTMR2 | P21T-E | Human | Esophagus | ESCC | 1.92e-23 | 4.25e-01 | 0.1617 |
| 8898 | MTMR2 | P22T-E | Human | Esophagus | ESCC | 2.68e-12 | 1.66e-01 | 0.1236 |
| 8898 | MTMR2 | P23T-E | Human | Esophagus | ESCC | 1.22e-07 | 1.95e-01 | 0.108 |
| 8898 | MTMR2 | P24T-E | Human | Esophagus | ESCC | 7.85e-08 | 2.02e-01 | 0.1287 |
| Page: 1 2 3 4 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ |
| ∗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 |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| 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 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:00066505 | Esophagus | ESCC | glycerophospholipid metabolic process | 174/8552 | 306/18723 | 4.92e-05 | 3.85e-04 | 174 |
| GO:000689818 | Esophagus | ESCC | receptor-mediated endocytosis | 142/8552 | 244/18723 | 5.22e-05 | 4.05e-04 | 142 |
| GO:00328015 | Esophagus | ESCC | receptor catabolic process | 23/8552 | 28/18723 | 8.23e-05 | 6.01e-04 | 23 |
| GO:00442626 | Esophagus | ESCC | cellular carbohydrate metabolic process | 160/8552 | 283/18723 | 1.43e-04 | 9.66e-04 | 160 |
| GO:19036496 | Esophagus | ESCC | regulation of cytoplasmic transport | 22/8552 | 28/18723 | 3.95e-04 | 2.26e-03 | 22 |
| GO:00519606 | Esophagus | ESCC | regulation of nervous system development | 237/8552 | 443/18723 | 5.02e-04 | 2.78e-03 | 237 |
| GO:00464864 | Esophagus | ESCC | glycerolipid metabolic process | 211/8552 | 392/18723 | 6.51e-04 | 3.46e-03 | 211 |
| GO:20006413 | Esophagus | ESCC | regulation of early endosome to late endosome transport | 15/8552 | 18/18723 | 1.20e-03 | 5.88e-03 | 15 |
| GO:00442827 | Esophagus | ESCC | small molecule catabolic process | 201/8552 | 376/18723 | 1.35e-03 | 6.41e-03 | 201 |
| GO:004825916 | Esophagus | ESCC | regulation of receptor-mediated endocytosis | 66/8552 | 110/18723 | 1.72e-03 | 7.96e-03 | 66 |
| GO:20006444 | Esophagus | ESCC | regulation of receptor catabolic process | 10/8552 | 11/18723 | 2.54e-03 | 1.08e-02 | 10 |
| GO:0031641 | Esophagus | ESCC | regulation of myelination | 31/8552 | 47/18723 | 4.01e-03 | 1.62e-02 | 31 |
| GO:00302586 | Esophagus | ESCC | lipid modification | 116/8552 | 212/18723 | 4.90e-03 | 1.89e-02 | 116 |
| GO:00192168 | Esophagus | ESCC | regulation of lipid metabolic process | 172/8552 | 331/18723 | 1.20e-02 | 4.02e-02 | 172 |
| GO:00066611 | Esophagus | ESCC | phosphatidylinositol biosynthetic process | 73/8552 | 131/18723 | 1.31e-02 | 4.28e-02 | 73 |
| GO:003238621 | Liver | HCC | regulation of intracellular transport | 231/7958 | 337/18723 | 1.99e-22 | 3.40e-20 | 231 |
| GO:003238821 | Liver | HCC | positive regulation of intracellular transport | 148/7958 | 202/18723 | 5.15e-19 | 6.66e-17 | 148 |
| GO:001648221 | Liver | HCC | cytosolic transport | 117/7958 | 168/18723 | 8.83e-13 | 4.48e-11 | 117 |
| GO:004428221 | Liver | HCC | small molecule catabolic process | 225/7958 | 376/18723 | 6.50e-12 | 2.80e-10 | 225 |
| GO:000989522 | Liver | HCC | negative regulation of catabolic process | 196/7958 | 320/18723 | 7.98e-12 | 3.35e-10 | 196 |
| Page: 1 2 3 4 5 6 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| 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. |
| Page: 1 |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| 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 |
| MTMR2 | SNV | Missense_Mutation | rs757563721 | c.832C>A | p.Gln278Lys | p.Q278K | Q13614 | protein_coding | tolerated(0.19) | benign(0.014) | TCGA-A7-A0DA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
| MTMR2 | SNV | Missense_Mutation | c.1018G>C | p.Glu340Gln | p.E340Q | Q13614 | protein_coding | deleterious(0) | possibly_damaging(0.818) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| MTMR2 | SNV | Missense_Mutation | c.662N>T | p.Pro221Leu | p.P221L | Q13614 | protein_coding | deleterious(0) | probably_damaging(0.944) | TCGA-AN-A0FJ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
| MTMR2 | SNV | Missense_Mutation | rs757563721 | c.832C>A | p.Gln278Lys | p.Q278K | Q13614 | protein_coding | tolerated(0.19) | benign(0.014) | TCGA-D8-A1X7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | ChemotherapyHormone Therapy | doxorubicine+cyclophosphamide+tamoxifen | SD |
| MTMR2 | SNV | Missense_Mutation | novel | c.831T>A | p.Ser277Arg | p.S277R | Q13614 | protein_coding | deleterious(0) | probably_damaging(0.93) | TCGA-D8-A1X7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | ChemotherapyHormone Therapy | doxorubicine+cyclophosphamide+tamoxifen | SD |
| MTMR2 | SNV | Missense_Mutation | c.238C>G | p.Pro80Ala | p.P80A | Q13614 | protein_coding | tolerated(0.08) | benign(0.027) | TCGA-EK-A2PL-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD | |
| MTMR2 | SNV | Missense_Mutation | novel | c.431N>A | p.Arg144Gln | p.R144Q | Q13614 | protein_coding | tolerated(0.08) | benign(0.066) | TCGA-XS-A8TJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
| MTMR2 | SNV | Missense_Mutation | novel | c.1790N>G | p.Tyr597Cys | p.Y597C | Q13614 | protein_coding | tolerated(0.14) | possibly_damaging(0.662) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
| MTMR2 | SNV | Missense_Mutation | novel | c.1574N>C | p.Glu525Ala | p.E525A | Q13614 | protein_coding | deleterious(0) | possibly_damaging(0.691) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
| MTMR2 | SNV | Missense_Mutation | novel | c.216N>C | p.Glu72Asp | p.E72D | Q13614 | protein_coding | tolerated(0.35) | benign(0.007) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
| Page: 1 2 3 4 5 |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
| Page: 1 |
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