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| TissGeneSummary for CACNA2D4 |
 Gene summary |
| Basic gene information | Gene symbol | CACNA2D4 |
| Gene name | calcium channel, voltage-dependent, alpha 2/delta subunit 4 | |
| Synonyms | RCD4 | |
| Cytomap | UCSC genome browser: 12p13.33 | |
| Type of gene | protein-coding | |
| RefGenes | NM_172364.4, NM_001005737.1,NM_001005766.1, | |
| Description | voltage-dependent calcium channel subunit alpha-2/delta-4voltage-gated calcium channel alpha(2)delta-4 subunitvoltage-gated calcium channel subunit alpha-2/delta-4 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 608171 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000151062 | ||
| HPRD : 12182 | ||
| Vega : OTTHUMG00000168111 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CACNA2D4 | |
| BioGPS: 93589 | ||
| Pathway | NCI Pathway Interaction Database: CACNA2D4 | |
| KEGG: CACNA2D4 | ||
| REACTOME: CACNA2D4 | ||
| Pathway Commons: CACNA2D4 | ||
| Context | iHOP: CACNA2D4 | |
| ligand binding site mutation search in PubMed: CACNA2D4 | ||
| UCL Cancer Institute: CACNA2D4 | ||
| Assigned class in TissGDB* | C | |
| Included tissue-specific gene expression resources | TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Bone marrowTestis | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | LAMLTGCT | |
| Reference showing the relevant tissue of CACNA2D4 | ||
| Description by TissGene annotations | ||
| * Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO term | PubMed ID | GO:0070588 | calcium ion transmembrane transport | 12181424 | GO:0070588 | calcium ion transmembrane transport | 12181424 |
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| TissGeneExp for CACNA2D4 |
| Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
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| Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
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| Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| - Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
| Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
| KIRC | 0.809383793 | -0.628270374 | 1.437654167 | 4.91E-14 | 2.30E-13 |
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| TissGene-miRNA for CACNA2D4 |
| Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
| Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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| TissGeneMut for CACNA2D4 |
| TissGeneSNV for CACNA2D4 |
| nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
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| Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
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| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.S160F | SKCM | 2 |
| p.A744S | LAML | 1 |
| p.M757L | LGG | 1 |
| p.D916N | DLBC | 1 |
| p.T458M | LGG | 1 |
| p.E156K | UCEC | 1 |
| p.E340K | UCEC | 1 |
| p.P568S | SKCM | 1 |
| p.H676Y | LUAD | 1 |
| p.T458M | STAD | 1 |
| p.T833M | THCA | 1 |
| p.E156K | SKCM | 1 |
| p.N634K | LUAD | 1 |
| p.D267Y | OV | 1 |
| p.D484N | CESC | 1 |
| p.M736I | SKCM | 1 |
| p.S437Y | UCEC | 1 |
| p.C1127R | KIRP | 1 |
| p.E323K | SKCM | 1 |
| p.S642R | LUSC | 1 |
| p.R628* | UCEC | 1 |
| p.R33H | UCEC | 1 |
| p.G97A | LUSC | 1 |
| p.R426Q | ESCA | 1 |
| p.A544V | PRAD | 1 |
| p.G85D | SKCM | 1 |
| p.A867V | THCA | 1 |
| p.V373L | UCEC | 1 |
| p.A490T | PAAD | 1 |
| p.V348I | BLCA | 1 |
| p.I294S | COAD | 1 |
| p.R355X | ESCA | 1 |
| p.R546L | LUAD | 1 |
| p.F157L | UCEC | 1 |
| p.D297A | KIRP | 1 |
| p.S206R | LUAD | 1 |
| p.D713N | SKCM | 1 |
| p.P41L | HNSC | 1 |
| p.T253A | COAD | 1 |
| p.A555T | READ | 1 |
| p.V141I | SKCM | 1 |
| p.S1113L | COAD | 1 |
| p.Q349H | LUSC | 1 |
| p.V478L | LUSC | 1 |
| p.W80* | LUAD | 1 |
| p.E75K | SKCM | 1 |
| p.R441H | ESCA | 1 |
| p.T454R | PAAD | 1 |
| p.P694Q | THYM | 1 |
| p.L630F | SKCM | 1 |
| p.E412K | SKCM | 1 |
| p.G393E | SKCM | 1 |
| p.E190Q | HNSC | 1 |
| p.T93N | BRCA | 1 |
| p.S299I | UCEC | 1 |
| p.A730T | ESCA | 1 |
| p.S588R | LUAD | 1 |
| p.M623I | SKCM | 1 |
| p.P572R | LIHC | 1 |
| p.R707C | DLBC | 1 |
| p.G85S | SKCM | 1 |
| p.R522Q | UCEC | 1 |
| p.R352Q | ESCA | 1 |
| p.K49R | COAD | 1 |
| p.Y659C | LUAD | 1 |
| p.L540Q | LUSC | 1 |
| p.P65S | SKCM | 1 |
| p.D894N | UCEC | 1 |
| p.V436M | KIRP | 1 |
| p.T253I | KIRC | 1 |
| p.E186K | BLCA | 1 |
| p.A1117P | LIHC | 1 |
| p.D715N | SKCM | 1 |
| p.S791N | LIHC | 1 |
| p.A43D | LUSC | 1 |
| p.G300S | CESC | 1 |
| p.Q102X | STAD | 1 |
| p.M40I | HNSC | 1 |
| p.R378K | SKCM | 1 |
| p.A380S | READ | 1 |
| p.W444X | SKCM | 1 |
| p.P1046L | STAD | 1 |
| p.D484N | STAD | 1 |
| p.R135W | UCEC | 1 |
| p.R781K | LUAD | 1 |
| p.K844N | LUSC | 1 |
| p.N1049S | SKCM | 1 |
| p.E268K | SKCM | 1 |
| p.E159X | ESCA | 1 |
| p.A1128T | LUSC | 1 |
| p.G406C | LIHC | 1 |
| p.G85S | STAD | 1 |
| p.E159* | ESCA | 1 |
| p.V466M | SKCM | 1 |
| p.Q804K | BLCA | 1 |
| p.E323V | SKCM | 1 |
| p.R628Q | UCEC | 1 |
| p.A704D | ESCA | 1 |
| p.R724L | COAD | 1 |
| p.G897E | SKCM | 1 |
| p.S1096F | SKCM | 1 |
| p.L377M | ACC | 1 |
| p.A851T | LIHC | 1 |
| p.P799L | STAD | 1 |
| p.W264* | SKCM | 1 |
| p.A511V | SKCM | 1 |
| p.R475C | STAD | 1 |
| p.E593X | COAD | 1 |
| p.A742V | HNSC | 1 |
| p.L537V | BLCA | 1 |
| p.E389K | SKCM | 1 |
| p.H676Q | STAD | 1 |
| p.E520K | UCEC | 1 |
| p.T243M | STAD | 1 |
| p.C423S | HNSC | 1 |
| p.Y95* | LUAD | 1 |
| p.G304R | SKCM | 1 |
| p.Q102* | STAD | 1 |
| p.R571L | COAD | 1 |
| p.M302I | LUAD | 1 |
| p.S127L | LUAD | 1 |
| p.A606S | COAD | 1 |
| p.D493E | LUAD | 1 |
| p.P878L | UCEC | 1 |
| p.E991G | LGG | 1 |
| p.P289T | LUAD | 1 |
| p.R441H | UCEC | 1 |
| p.D319V | STAD | 1 |
| p.R628L | LUAD | 1 |
| p.G626R | SKCM | 1 |
| p.A826V | HNSC | 1 |
| p.G761S | SKCM | 1 |
| p.E789K | BLCA | 1 |
| p.M607T | STAD | 1 |
| p.A232V | BLCA | 1 |
| p.C396* | LUAD | 1 |
| p.E364K | SKCM | 1 |
| p.P572S | SKCM | 1 |
| p.S616L | READ | 1 |
| p.P584H | LUAD | 1 |
| p.E611K | SKCM | 1 |
| p.G532S | PRAD | 1 |
| p.T521M | ACC | 1 |
| p.V731M | SKCM | 1 |
| p.E669K | SKCM | 1 |
| p.D796N | SKCM | 1 |
| p.E176* | BLCA | 1 |
| p.R441C | STAD | 1 |
| p.E149K | ACC | 1 |
| p.A555T | CHOL | 1 |
| p.G406C | LUAD | 1 |
| p.E489K | LUAD | 1 |
| p.V854F | BRCA | 1 |
| p.N237S | SKCM | 1 |
| p.E416Q | BLCA | 1 |
| p.I485M | LUAD | 1 |
| p.D461N | SKCM | 1 |
| p.L527I | UCEC | 1 |
| p.W246* | LUAD | 1 |
| p.R426Q | DLBC | 1 |
| p.W55C | LIHC | 1 |
| p.W444* | SKCM | 1 |
| p.A460V | GBM | 1 |
| p.V141I | LUAD | 1 |
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| TissGeneCNV for CACNA2D4 |
| Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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| TissGeneFusions for CACNA2D4 |
| Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
| Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
| Chimerdb3.0 | ChiTaRs | NA | BC075848 | CACNA2D4-HMGN2 | chr12:2027712 | chr1:26799035 | |
| TCGAfusionPortal | PRADA | BLCA | TCGA-G2-A3VY-01A | WDR70-CACNA2D4 | Out-of-frame | Chr5:37516692 | Chr12:2019131 |
| TCGAfusionPortal | PRADA | BRCA | TCGA-AC-A2FM-01A | ZNF274-CACNA2D4 | Out-of-frame | Chr19:58721439 | Chr12:1996235 |
| TCGAfusionPortal | PRADA | BRCA | TCGA-AO-A03L-01A | UQCC-CACNA2D4 | Out-of-frame | Chr20:33954360 | Chr12:1919753 |
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| TissGeneNet for CACNA2D4 |
| Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
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| TissGeneProg for CACNA2D4 |
| Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
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| Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| TissGeneClin for CACNA2D4 |
| TissGeneDrug for CACNA2D4 |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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| TissGeneDisease for CACNA2D4 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0004936 | Mental disorders | 1 | BeFree |
| umls:C0006012 | Borderline Personality Disorder | 1 | BeFree |
| umls:C0006287 | Bronchopulmonary Dysplasia | 1 | BeFree |
| umls:C0028077 | Night Blindness | 1 | GAD |
| umls:C0035309 | Retinal Diseases | 1 | GAD |
| umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
| umls:C1271104 | Blood pressure finding | 1 | GWASCAT |
| umls:C1272641 | Systemic arterial pressure | 1 | GWASCAT |
| umls:C0339535 | Night blindness, congenital stationary | 0 | ORPHANET |
| umls:C1864849 | RETINAL CONE DYSTROPHY 4 | 0 | CLINVAR,CTD_human |
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