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Gene: CACNA2D2 |
Gene summary for CACNA2D2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | CACNA2D2 | Gene ID | 9254 |
| Gene name | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | |
| Gene Alias | CACNA2D | |
| Cytomap | 3p21.31 | |
| Gene Type | protein-coding | GO ID | GO:0006810 | UniProtAcc | Q9NY47 |
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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 |
| 9254 | CACNA2D2 | TD9 | Human | Lung | IAC | 6.96e-08 | -3.19e-01 | 0.088 |
| 9254 | CACNA2D2 | RNA-P10T2-P10T2-4 | Human | Lung | AAH | 8.91e-06 | -4.24e-01 | -0.138 |
| 9254 | CACNA2D2 | RNA-P17T-P17T-2 | Human | Lung | IAC | 1.03e-04 | -5.30e-01 | 0.3371 |
| 9254 | CACNA2D2 | RNA-P25T1-P25T1-1 | Human | Lung | AIS | 7.99e-13 | -2.14e-01 | -0.2116 |
| 9254 | CACNA2D2 | RNA-P25T1-P25T1-2 | Human | Lung | AIS | 3.26e-04 | -3.48e-01 | -0.1941 |
| 9254 | CACNA2D2 | RNA-P25T1-P25T1-3 | Human | Lung | AIS | 3.17e-03 | -1.64e-01 | -0.2107 |
| 9254 | CACNA2D2 | RNA-P25T1-P25T1-4 | Human | Lung | AIS | 7.77e-09 | 8.45e-02 | -0.2119 |
| 9254 | CACNA2D2 | RNA-P3T-P3T-1 | Human | Lung | IAC | 1.21e-02 | -7.25e-01 | 0.1829 |
| 9254 | CACNA2D2 | RNA-P3T-P3T-2 | Human | Lung | IAC | 5.53e-03 | -7.25e-01 | 0.1835 |
| 9254 | CACNA2D2 | RNA-P3T-P3T-4 | Human | Lung | IAC | 3.29e-03 | -7.25e-01 | 0.1859 |
| 9254 | CACNA2D2 | RNA-P6T1-P6T1-1 | Human | Lung | MIAC | 4.09e-03 | -7.45e-02 | -0.0238 |
| 9254 | CACNA2D2 | RNA-P6T1-P6T1-4 | Human | Lung | MIAC | 3.54e-05 | -3.00e-01 | -0.0263 |
| 9254 | CACNA2D2 | RNA-P6T2-P6T2-1 | Human | Lung | IAC | 1.85e-12 | -9.94e-03 | -0.0166 |
| 9254 | CACNA2D2 | RNA-P6T2-P6T2-2 | Human | Lung | IAC | 1.57e-19 | -5.28e-02 | -0.0132 |
| 9254 | CACNA2D2 | RNA-P6T2-P6T2-3 | Human | Lung | IAC | 3.47e-21 | 7.52e-02 | -0.013 |
| 9254 | CACNA2D2 | RNA-P6T2-P6T2-4 | Human | Lung | IAC | 7.47e-12 | 1.61e-01 | -0.0121 |
| 9254 | CACNA2D2 | RNA-P7T1-P7T1-2 | Human | Lung | AIS | 1.82e-02 | -6.23e-01 | -0.0876 |
| 9254 | CACNA2D2 | RNA-P7T1-P7T1-3 | Human | Lung | AIS | 2.11e-02 | -5.00e-01 | -0.0822 |
| 9254 | CACNA2D2 | RNA-P7T1-P7T1-4 | Human | Lung | AIS | 4.25e-03 | -4.91e-01 | -0.0809 |
| Page: 1 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma |
| ∗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:0006816 | Lung | AIS | calcium ion transport | 58/1849 | 422/18723 | 6.08e-03 | 4.98e-02 | 58 |
| Page: 1 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa040108 | Lung | IAC | MAPK signaling pathway | 62/1053 | 302/8465 | 3.54e-05 | 6.38e-04 | 4.24e-04 | 62 |
| hsa054126 | Lung | IAC | Arrhythmogenic right ventricular cardiomyopathy | 22/1053 | 77/8465 | 1.15e-04 | 1.49e-03 | 9.88e-04 | 22 |
| hsa04921 | Lung | IAC | Oxytocin signaling pathway | 33/1053 | 154/8465 | 1.09e-03 | 7.82e-03 | 5.19e-03 | 33 |
| hsa05410 | Lung | IAC | Hypertrophic cardiomyopathy | 20/1053 | 90/8465 | 6.44e-03 | 2.68e-02 | 1.78e-02 | 20 |
| hsa05414 | Lung | IAC | Dilated cardiomyopathy | 20/1053 | 96/8465 | 1.33e-02 | 4.64e-02 | 3.08e-02 | 20 |
| hsa0401011 | Lung | IAC | MAPK signaling pathway | 62/1053 | 302/8465 | 3.54e-05 | 6.38e-04 | 4.24e-04 | 62 |
| hsa0541211 | Lung | IAC | Arrhythmogenic right ventricular cardiomyopathy | 22/1053 | 77/8465 | 1.15e-04 | 1.49e-03 | 9.88e-04 | 22 |
| hsa049211 | Lung | IAC | Oxytocin signaling pathway | 33/1053 | 154/8465 | 1.09e-03 | 7.82e-03 | 5.19e-03 | 33 |
| hsa054101 | Lung | IAC | Hypertrophic cardiomyopathy | 20/1053 | 90/8465 | 6.44e-03 | 2.68e-02 | 1.78e-02 | 20 |
| hsa054141 | Lung | IAC | Dilated cardiomyopathy | 20/1053 | 96/8465 | 1.33e-02 | 4.64e-02 | 3.08e-02 | 20 |
| hsa0401021 | Lung | AIS | MAPK signaling pathway | 57/961 | 302/8465 | 6.41e-05 | 9.43e-04 | 6.03e-04 | 57 |
| hsa0541221 | Lung | AIS | Arrhythmogenic right ventricular cardiomyopathy | 21/961 | 77/8465 | 9.05e-05 | 1.18e-03 | 7.57e-04 | 21 |
| hsa049212 | Lung | AIS | Oxytocin signaling pathway | 34/961 | 154/8465 | 9.12e-05 | 1.18e-03 | 7.57e-04 | 34 |
| hsa054142 | Lung | AIS | Dilated cardiomyopathy | 22/961 | 96/8465 | 9.02e-04 | 7.11e-03 | 4.55e-03 | 22 |
| hsa054102 | Lung | AIS | Hypertrophic cardiomyopathy | 20/961 | 90/8465 | 2.25e-03 | 1.37e-02 | 8.80e-03 | 20 |
| hsa0401031 | Lung | AIS | MAPK signaling pathway | 57/961 | 302/8465 | 6.41e-05 | 9.43e-04 | 6.03e-04 | 57 |
| hsa0541231 | Lung | AIS | Arrhythmogenic right ventricular cardiomyopathy | 21/961 | 77/8465 | 9.05e-05 | 1.18e-03 | 7.57e-04 | 21 |
| hsa049213 | Lung | AIS | Oxytocin signaling pathway | 34/961 | 154/8465 | 9.12e-05 | 1.18e-03 | 7.57e-04 | 34 |
| hsa054143 | Lung | AIS | Dilated cardiomyopathy | 22/961 | 96/8465 | 9.02e-04 | 7.11e-03 | 4.55e-03 | 22 |
| hsa054103 | Lung | AIS | Hypertrophic cardiomyopathy | 20/961 | 90/8465 | 2.25e-03 | 1.37e-02 | 8.80e-03 | 20 |
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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 |
| Page: 1 |
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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 |
| CACNA2D2 | SNV | Missense_Mutation | c.2833N>A | p.Ala945Thr | p.A945T | Q9NY47 | protein_coding | tolerated(0.5) | benign(0.011) | TCGA-A2-A0EO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | |
| CACNA2D2 | SNV | Missense_Mutation | c.1796G>T | p.Gly599Val | p.G599V | Q9NY47 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A2-A0YK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | |
| CACNA2D2 | SNV | Missense_Mutation | novel | c.2716C>A | p.His906Asn | p.H906N | Q9NY47 | protein_coding | tolerated(0.43) | benign(0) | TCGA-A8-A08R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| CACNA2D2 | SNV | Missense_Mutation | c.2857N>A | p.Gly953Ser | p.G953S | Q9NY47 | protein_coding | tolerated(0.26) | possibly_damaging(0.619) | TCGA-AO-A0J7-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | SD | |
| CACNA2D2 | SNV | Missense_Mutation | c.3007G>A | p.Glu1003Lys | p.E1003K | Q9NY47 | protein_coding | tolerated(0.16) | benign(0.311) | TCGA-B6-A0X1-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD | |
| CACNA2D2 | SNV | Missense_Mutation | c.650N>A | p.Gly217Asp | p.G217D | Q9NY47 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | |
| CACNA2D2 | SNV | Missense_Mutation | c.826N>A | p.Val276Ile | p.V276I | Q9NY47 | protein_coding | deleterious(0) | probably_damaging(0.98) | TCGA-D8-A1J8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | nolvadex | SD | |
| CACNA2D2 | SNV | Missense_Mutation | c.2932N>A | p.Ala978Thr | p.A978T | Q9NY47 | protein_coding | tolerated(0.09) | benign(0.02) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| CACNA2D2 | insertion | Frame_Shift_Ins | novel | c.2053_2054insGC | p.Phe685CysfsTer12 | p.F685Cfs*12 | Q9NY47 | protein_coding | TCGA-A2-A04Y-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | ||
| CACNA2D2 | insertion | Frame_Shift_Ins | novel | c.2052_2053insCTCATGTACACACCGTC | p.Phe685LeufsTer17 | p.F685Lfs*17 | Q9NY47 | protein_coding | TCGA-A2-A04Y-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
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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 |
| 9254 | CACNA2D2 | ION CHANNEL, DRUGGABLE GENOME | modulator | CHEMBL2103836 | IMAGABALIN | |
| 9254 | CACNA2D2 | ION CHANNEL, DRUGGABLE GENOME | modulator | CHEMBL940 | GABAPENTIN | |
| 9254 | CACNA2D2 | ION CHANNEL, DRUGGABLE GENOME | BUDIODARONE | BUDIODARONE | ||
| 9254 | CACNA2D2 | ION CHANNEL, DRUGGABLE GENOME | blocker | CHEMBL1200382 | BEPRIDIL HYDROCHLORIDE | |
| 9254 | CACNA2D2 | ION CHANNEL, DRUGGABLE GENOME | modulator | CHEMBL593430 | ATAGABALIN | |
| 9254 | CACNA2D2 | ION CHANNEL, DRUGGABLE GENOME | modulator | CHEMBL1059 | PREGABALIN | |
| 9254 | CACNA2D2 | ION CHANNEL, DRUGGABLE GENOME | modulator | CHEMBL3545257 | MIROGABALIN BESYLATE | |
| 9254 | CACNA2D2 | ION CHANNEL, DRUGGABLE GENOME | XP13512 | GABAPENTIN ENACARBIL | ||
| 9254 | CACNA2D2 | ION CHANNEL, DRUGGABLE GENOME | GABAPENTIN | GABAPENTIN | ||
| 9254 | CACNA2D2 | ION CHANNEL, DRUGGABLE GENOME | SAFINAMIDE | SAFINAMIDE |
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