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Gene: MAMDC2 |
Gene summary for MAMDC2 |
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Gene information | Species | Human | Gene symbol | MAMDC2 | Gene ID | 256691 |
Gene name | MAM domain containing 2 | |
Gene Alias | MAMDC2 | |
Cytomap | 9q21.12 | |
Gene Type | protein-coding | GO ID | GO:0005575 | UniProtAcc | Q7Z304 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
256691 | MAMDC2 | CCI_2 | Human | Cervix | CC | 2.30e-10 | 7.33e-01 | 0.5249 |
256691 | MAMDC2 | CCI_3 | Human | Cervix | CC | 1.77e-02 | 1.79e-01 | 0.516 |
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Tissue | Expression Dynamics | Abbreviation |
Cervix | ![]() | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
N_HPV: HPV-infected normal cervix |
∗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 |
Stomach | WIM | ![]() |
Stomach | SIM | ![]() |
Liver | NAFLD | ![]() |
Liver | Cirrhotic | ![]() |
Liver | HCC | ![]() |
∗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 |
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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 |
MAMDC2 | SNV | Missense_Mutation | novel | c.1352G>A | p.Arg451Lys | p.R451K | Q7Z304 | protein_coding | tolerated(0.35) | benign(0.06) | TCGA-5L-AAT0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
MAMDC2 | SNV | Missense_Mutation | c.1447C>T | p.Leu483Phe | p.L483F | Q7Z304 | protein_coding | tolerated(0.63) | possibly_damaging(0.596) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
MAMDC2 | SNV | Missense_Mutation | c.955N>A | p.Asp319Asn | p.D319N | Q7Z304 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD | |
MAMDC2 | SNV | Missense_Mutation | c.955G>A | p.Asp319Asn | p.D319N | Q7Z304 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-GM-A2DO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | CR | |
MAMDC2 | SNV | Missense_Mutation | novel | c.379N>G | p.Ile127Val | p.I127V | Q7Z304 | protein_coding | tolerated(0.08) | possibly_damaging(0.605) | TCGA-LL-A5YP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
MAMDC2 | insertion | Nonsense_Mutation | novel | c.128_129insTTAGGCCACATACAATATTTTTTCCTTTCTCT | p.Trp44Ter | p.W44* | Q7Z304 | protein_coding | TCGA-AO-A0J5-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Other, specify in notesBisphosphonate | zoledronic | PD | ||
MAMDC2 | SNV | Missense_Mutation | c.1978C>G | p.Gln660Glu | p.Q660E | Q7Z304 | protein_coding | tolerated(0.32) | benign(0.114) | TCGA-C5-A1BQ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | CR | |
MAMDC2 | SNV | Missense_Mutation | c.1978N>G | p.Gln660Glu | p.Q660E | Q7Z304 | protein_coding | tolerated(0.32) | benign(0.114) | TCGA-C5-A3HL-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD | |
MAMDC2 | SNV | Missense_Mutation | novel | c.818A>C | p.Glu273Ala | p.E273A | Q7Z304 | protein_coding | deleterious(0) | probably_damaging(0.969) | TCGA-VS-A8QH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | gemcitabine | PD |
MAMDC2 | SNV | Missense_Mutation | rs147526021 | c.866C>T | p.Ala289Val | p.A289V | Q7Z304 | protein_coding | tolerated(0.48) | benign(0.215) | TCGA-A6-6654-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | oxaliplatin | 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 |
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