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Gene: MDH2 |
Gene summary for MDH2 |
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Gene information | Species | Human | Gene symbol | MDH2 | Gene ID | 4191 |
Gene name | malate dehydrogenase 2 | |
Gene Alias | DEE51 | |
Cytomap | 7q11.23 | |
Gene Type | protein-coding | GO ID | GO:0005975 | UniProtAcc | B3KTM1 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
4191 | MDH2 | ATC5 | Human | Thyroid | ATC | 1.37e-41 | 1.17e+00 | 0.34 |
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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). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00090608 | Breast | Precancer | aerobic respiration | 58/1080 | 189/18723 | 5.69e-27 | 7.62e-24 | 58 |
GO:00060918 | Breast | Precancer | generation of precursor metabolites and energy | 94/1080 | 490/18723 | 1.54e-25 | 1.64e-22 | 94 |
GO:00453338 | Breast | Precancer | cellular respiration | 59/1080 | 230/18723 | 5.97e-23 | 5.32e-20 | 59 |
GO:00159808 | Breast | Precancer | energy derivation by oxidation of organic compounds | 70/1080 | 318/18723 | 8.33e-23 | 6.37e-20 | 70 |
GO:00067345 | Breast | Precancer | NADH metabolic process | 6/1080 | 29/18723 | 5.49e-03 | 4.01e-02 | 6 |
GO:000906013 | Breast | IDC | aerobic respiration | 61/1434 | 189/18723 | 4.42e-23 | 6.27e-20 | 61 |
GO:000609113 | Breast | IDC | generation of precursor metabolites and energy | 103/1434 | 490/18723 | 1.53e-21 | 1.74e-18 | 103 |
GO:004533313 | Breast | IDC | cellular respiration | 62/1434 | 230/18723 | 5.98e-19 | 4.25e-16 | 62 |
GO:001598013 | Breast | IDC | energy derivation by oxidation of organic compounds | 73/1434 | 318/18723 | 8.70e-18 | 3.80e-15 | 73 |
GO:000906023 | Breast | DCIS | aerobic respiration | 61/1390 | 189/18723 | 8.72e-24 | 1.23e-20 | 61 |
GO:000609123 | Breast | DCIS | generation of precursor metabolites and energy | 103/1390 | 490/18723 | 1.46e-22 | 1.65e-19 | 103 |
GO:004533323 | Breast | DCIS | cellular respiration | 62/1390 | 230/18723 | 1.26e-19 | 1.02e-16 | 62 |
GO:001598023 | Breast | DCIS | energy derivation by oxidation of organic compounds | 73/1390 | 318/18723 | 1.56e-18 | 8.01e-16 | 73 |
GO:00090609 | Cervix | CC | aerobic respiration | 60/2311 | 189/18723 | 1.59e-12 | 6.36e-10 | 60 |
GO:00453339 | Cervix | CC | cellular respiration | 66/2311 | 230/18723 | 2.07e-11 | 5.39e-09 | 66 |
GO:00060919 | Cervix | CC | generation of precursor metabolites and energy | 105/2311 | 490/18723 | 7.40e-09 | 6.61e-07 | 105 |
GO:00159809 | Cervix | CC | energy derivation by oxidation of organic compounds | 74/2311 | 318/18723 | 3.83e-08 | 2.53e-06 | 74 |
GO:00067346 | Cervix | CC | NADH metabolic process | 9/2311 | 29/18723 | 6.49e-03 | 3.61e-02 | 9 |
GO:0006091 | Colorectum | AD | generation of precursor metabolites and energy | 209/3918 | 490/18723 | 3.17e-28 | 6.61e-25 | 209 |
GO:0009060 | Colorectum | AD | aerobic respiration | 108/3918 | 189/18723 | 9.14e-28 | 1.43e-24 | 108 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0120012 | Breast | Precancer | Carbon metabolism | 18/684 | 115/8465 | 4.79e-03 | 2.75e-02 | 2.11e-02 | 18 |
hsa0120013 | Breast | Precancer | Carbon metabolism | 18/684 | 115/8465 | 4.79e-03 | 2.75e-02 | 2.11e-02 | 18 |
hsa01200 | Colorectum | AD | Carbon metabolism | 55/2092 | 115/8465 | 5.53e-08 | 8.42e-07 | 5.37e-07 | 55 |
hsa00620 | Colorectum | AD | Pyruvate metabolism | 28/2092 | 47/8465 | 3.71e-07 | 5.41e-06 | 3.45e-06 | 28 |
hsa00020 | Colorectum | AD | Citrate cycle (TCA cycle) | 20/2092 | 30/8465 | 1.43e-06 | 1.77e-05 | 1.13e-05 | 20 |
hsa00630 | Colorectum | AD | Glyoxylate and dicarboxylate metabolism | 14/2092 | 30/8465 | 7.25e-03 | 2.97e-02 | 1.89e-02 | 14 |
hsa012001 | Colorectum | AD | Carbon metabolism | 55/2092 | 115/8465 | 5.53e-08 | 8.42e-07 | 5.37e-07 | 55 |
hsa006201 | Colorectum | AD | Pyruvate metabolism | 28/2092 | 47/8465 | 3.71e-07 | 5.41e-06 | 3.45e-06 | 28 |
hsa000201 | Colorectum | AD | Citrate cycle (TCA cycle) | 20/2092 | 30/8465 | 1.43e-06 | 1.77e-05 | 1.13e-05 | 20 |
hsa006301 | Colorectum | AD | Glyoxylate and dicarboxylate metabolism | 14/2092 | 30/8465 | 7.25e-03 | 2.97e-02 | 1.89e-02 | 14 |
hsa006202 | Colorectum | SER | Pyruvate metabolism | 22/1580 | 47/8465 | 9.62e-06 | 1.33e-04 | 9.67e-05 | 22 |
hsa000202 | Colorectum | SER | Citrate cycle (TCA cycle) | 16/1580 | 30/8465 | 2.06e-05 | 2.74e-04 | 1.99e-04 | 16 |
hsa012002 | Colorectum | SER | Carbon metabolism | 40/1580 | 115/8465 | 2.77e-05 | 3.41e-04 | 2.47e-04 | 40 |
hsa006203 | Colorectum | SER | Pyruvate metabolism | 22/1580 | 47/8465 | 9.62e-06 | 1.33e-04 | 9.67e-05 | 22 |
hsa000203 | Colorectum | SER | Citrate cycle (TCA cycle) | 16/1580 | 30/8465 | 2.06e-05 | 2.74e-04 | 1.99e-04 | 16 |
hsa012003 | Colorectum | SER | Carbon metabolism | 40/1580 | 115/8465 | 2.77e-05 | 3.41e-04 | 2.47e-04 | 40 |
hsa006204 | Colorectum | MSS | Pyruvate metabolism | 24/1875 | 47/8465 | 1.25e-05 | 1.35e-04 | 8.27e-05 | 24 |
hsa012004 | Colorectum | MSS | Carbon metabolism | 43/1875 | 115/8465 | 1.37e-04 | 1.17e-03 | 7.19e-04 | 43 |
hsa000204 | Colorectum | MSS | Citrate cycle (TCA cycle) | 16/1875 | 30/8465 | 1.84e-04 | 1.47e-03 | 9.00e-04 | 16 |
hsa006205 | Colorectum | MSS | Pyruvate metabolism | 24/1875 | 47/8465 | 1.25e-05 | 1.35e-04 | 8.27e-05 | 24 |
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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 |
MDH2 | SNV | Missense_Mutation | rs145207041 | c.505N>A | p.Val169Met | p.V169M | P40926 | protein_coding | deleterious(0.03) | possibly_damaging(0.62) | TCGA-A8-A09A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
MDH2 | SNV | Missense_Mutation | novel | c.754N>T | p.Ala252Ser | p.A252S | P40926 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-E9-A22H-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
MDH2 | insertion | Frame_Shift_Ins | novel | c.789_790insGGGTT | p.Asp264GlyfsTer5 | p.D264Gfs*5 | P40926 | protein_coding | TCGA-BH-A0AY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | SD | |||
MDH2 | insertion | Nonsense_Mutation | novel | c.791_792insGAGTCATTTTTGAGGG | p.Asp264GlufsTer5 | p.D264Efs*5 | P40926 | protein_coding | TCGA-BH-A0AY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | SD | |||
MDH2 | SNV | Missense_Mutation | novel | c.596G>A | p.Gly199Asp | p.G199D | P40926 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MDH2 | SNV | Missense_Mutation | c.509N>G | p.Thr170Arg | p.T170R | P40926 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-MY-A5BD-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
MDH2 | SNV | Missense_Mutation | rs782546937 | c.502N>A | p.Gly168Ser | p.G168S | P40926 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-UC-A7PG-06 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | PD |
MDH2 | SNV | Missense_Mutation | c.169G>C | p.Asp57His | p.D57H | P40926 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-CK-4948-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
MDH2 | SNV | Missense_Mutation | rs782472423 | c.328N>T | p.Arg110Trp | p.R110W | P40926 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-G4-6586-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MDH2 | SNV | Missense_Mutation | rs373091398 | c.898G>A | p.Glu300Lys | p.E300K | P40926 | protein_coding | tolerated(0.1) | benign(0.085) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
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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 |
4191 | MDH2 | NA | ALBUMIN | ALBUMIN HUMAN | 2932302 | |
4191 | MDH2 | NA | EXPECTORANT | 15225672 | ||
4191 | MDH2 | NA | GONADOTROPINS | 10026128 | ||
4191 | MDH2 | NA | ANTIOXIDANT | 15225672 | ||
4191 | MDH2 | NA | CISPLATIN | CISPLATIN | 15225672 |
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