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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for CACNA2D2 |
 Gene summary |
| Gene information | Gene symbol | CACNA2D2 | Gene ID | 9254 |
| Gene name | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | |
| Synonyms | CACNA2D | |
| Cytomap | 3p21.31 | |
| Type of gene | protein-coding | |
| Description | voltage-dependent calcium channel subunit alpha-2/delta-2alpha 2 delta calcium channel subunitcalcium channel, voltage-dependent, alpha 2/delta subunit 2gene 26voltage-gated calcium channel subunit alpha-2/delta-2 | |
| Modification date | 20180522 | |
| UniProtAcc | Q9NY47 | |
| Context | PubMed: CACNA2D2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Exon skipping events across known transcript of Ensembl for CACNA2D2 from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for CACNA2D2 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for CACNA2D2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_384682 | 3 | 50407750:50407811:50410495:50410516:50412167:50412244 | 50410495:50410516 | ENSG00000007402.7 | ENST00000423994.2,ENST00000435965.1,ENST00000479441.1 |
| exon_skip_384683 | 3 | 50413393:50413465:50413544:50413619:50414897:50414972 | 50413544:50413619 | ENSG00000007402.7 | ENST00000423994.2,ENST00000435965.1,ENST00000360963.3,ENST00000395083.1,ENST00000424201.2,ENST00000266039.3,ENST00000479441.1,ENST00000429770.1 |
| exon_skip_384684 | 3 | 50417155:50417255:50417398:50417449:50418178:50418236 | 50417398:50417449 | ENSG00000007402.7 | ENST00000423994.2,ENST00000435965.1,ENST00000360963.3,ENST00000395083.1,ENST00000424201.2,ENST00000266039.3,ENST00000479441.1,ENST00000429770.1 |
| exon_skip_384685 | 3 | 50421626:50421768:50424998:50425043:50431539:50431599 | 50424998:50425043 | ENSG00000007402.7 | ENST00000423994.2,ENST00000435965.1,ENST00000360963.3,ENST00000395083.1,ENST00000424201.2,ENST00000266039.3,ENST00000479441.1,ENST00000429770.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CACNA2D2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_384682 | 3 | 50407750:50407811:50410495:50410516:50412167:50412244 | 50410495:50410516 | ENSG00000007402.7 | ENST00000423994.2,ENST00000435965.1,ENST00000479441.1 |
| exon_skip_384683 | 3 | 50413393:50413465:50413544:50413619:50414897:50414972 | 50413544:50413619 | ENSG00000007402.7 | ENST00000423994.2,ENST00000429770.1,ENST00000266039.3,ENST00000360963.3,ENST00000435965.1,ENST00000395083.1,ENST00000424201.2,ENST00000479441.1 |
| exon_skip_384684 | 3 | 50417155:50417255:50417398:50417449:50418178:50418236 | 50417398:50417449 | ENSG00000007402.7 | ENST00000423994.2,ENST00000429770.1,ENST00000266039.3,ENST00000360963.3,ENST00000435965.1,ENST00000395083.1,ENST00000424201.2,ENST00000479441.1 |
| exon_skip_384685 | 3 | 50421626:50421768:50424998:50425043:50431539:50431599 | 50424998:50425043 | ENSG00000007402.7 | ENST00000423994.2,ENST00000429770.1,ENST00000266039.3,ENST00000360963.3,ENST00000435965.1,ENST00000395083.1,ENST00000424201.2,ENST00000479441.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for CACNA2D2 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000479441 | 50410495 | 50410516 | In-frame |
| ENST00000479441 | 50413544 | 50413619 | In-frame |
| ENST00000479441 | 50417398 | 50417449 | In-frame |
| ENST00000479441 | 50424998 | 50425043 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000479441 | 50410495 | 50410516 | In-frame |
| ENST00000479441 | 50413544 | 50413619 | In-frame |
| ENST00000479441 | 50417398 | 50417449 | In-frame |
| ENST00000479441 | 50424998 | 50425043 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CACNA2D2 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000479441 | 3470 | 1150 | 50424998 | 50425043 | 466 | 510 | 155 | 170 |
| ENST00000479441 | 3470 | 1150 | 50417398 | 50417449 | 843 | 893 | 281 | 297 |
| ENST00000479441 | 3470 | 1150 | 50413544 | 50413619 | 1627 | 1701 | 542 | 567 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000479441 | 3470 | 1150 | 50424998 | 50425043 | 466 | 510 | 155 | 170 |
| ENST00000479441 | 3470 | 1150 | 50417398 | 50417449 | 843 | 893 | 281 | 297 |
| ENST00000479441 | 3470 | 1150 | 50413544 | 50413619 | 1627 | 1701 | 542 | 567 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q9NY47 | 155 | 170 | 19 | 1150 | Chain | ID=PRO_0000304637;Note=Voltage-dependent calcium channel subunit alpha-2/delta-2 |
| Q9NY47 | 155 | 170 | 19 | 1001 | Chain | ID=PRO_0000304638;Note=Voltage-dependent calcium channel subunit alpha-2-2;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NY47 | 155 | 170 | 19 | 1113 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NY47 | 281 | 297 | 19 | 1150 | Chain | ID=PRO_0000304637;Note=Voltage-dependent calcium channel subunit alpha-2/delta-2 |
| Q9NY47 | 281 | 297 | 19 | 1001 | Chain | ID=PRO_0000304638;Note=Voltage-dependent calcium channel subunit alpha-2-2;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NY47 | 281 | 297 | 291 | 469 | Domain | Note=VWFA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00219 |
| Q9NY47 | 281 | 297 | 297 | 297 | Metal binding | Note=Divalent metal cation;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9NY47 | 281 | 297 | 297 | 301 | Motif | Note=MIDAS-like motif |
| Q9NY47 | 281 | 297 | 19 | 1113 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NY47 | 542 | 567 | 19 | 1150 | Chain | ID=PRO_0000304637;Note=Voltage-dependent calcium channel subunit alpha-2/delta-2 |
| Q9NY47 | 542 | 567 | 19 | 1001 | Chain | ID=PRO_0000304638;Note=Voltage-dependent calcium channel subunit alpha-2-2;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NY47 | 542 | 567 | 443 | 1098 | Disulfide bond | Note=Interchain (between alpha-2-2 and delta-2 chains);Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9NY47 | 542 | 567 | 485 | 574 | Domain | Note=Cache |
| Q9NY47 | 542 | 567 | 19 | 1113 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q9NY47 | 155 | 170 | 19 | 1150 | Chain | ID=PRO_0000304637;Note=Voltage-dependent calcium channel subunit alpha-2/delta-2 |
| Q9NY47 | 155 | 170 | 19 | 1001 | Chain | ID=PRO_0000304638;Note=Voltage-dependent calcium channel subunit alpha-2-2;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NY47 | 155 | 170 | 19 | 1113 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NY47 | 281 | 297 | 19 | 1150 | Chain | ID=PRO_0000304637;Note=Voltage-dependent calcium channel subunit alpha-2/delta-2 |
| Q9NY47 | 281 | 297 | 19 | 1001 | Chain | ID=PRO_0000304638;Note=Voltage-dependent calcium channel subunit alpha-2-2;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NY47 | 281 | 297 | 291 | 469 | Domain | Note=VWFA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00219 |
| Q9NY47 | 281 | 297 | 297 | 297 | Metal binding | Note=Divalent metal cation;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9NY47 | 281 | 297 | 297 | 301 | Motif | Note=MIDAS-like motif |
| Q9NY47 | 281 | 297 | 19 | 1113 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NY47 | 542 | 567 | 19 | 1150 | Chain | ID=PRO_0000304637;Note=Voltage-dependent calcium channel subunit alpha-2/delta-2 |
| Q9NY47 | 542 | 567 | 19 | 1001 | Chain | ID=PRO_0000304638;Note=Voltage-dependent calcium channel subunit alpha-2-2;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NY47 | 542 | 567 | 443 | 1098 | Disulfide bond | Note=Interchain (between alpha-2-2 and delta-2 chains);Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9NY47 | 542 | 567 | 485 | 574 | Domain | Note=Cache |
| Q9NY47 | 542 | 567 | 19 | 1113 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for CACNA2D2 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_384683 | 50413545 | 50413619 | 50413547 | 50413547 | Frame_Shift_Del | G | - | p.Q567fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_384684 | 50417399 | 50417449 | 50417436 | 50417436 | Frame_Shift_Del | C | - | p.A286fs |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| SNUC2A_LARGE_INTESTINE | 50413545 | 50413619 | 50413574 | 50413574 | Missense_Mutation | C | T | p.V558M |
| SNUC2B_LARGE_INTESTINE | 50413545 | 50413619 | 50413574 | 50413574 | Missense_Mutation | C | T | p.V558M |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 50413545 | 50413619 | 50413585 | 50413585 | Missense_Mutation | A | G | p.L554P |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 50417399 | 50417449 | 50417414 | 50417414 | Missense_Mutation | A | G | p.V293A |
| HEC1_ENDOMETRIUM | 50417399 | 50417449 | 50417447 | 50417447 | Missense_Mutation | T | C | p.Y282C |
| RERFGC1B_STOMACH | 50424999 | 50425043 | 50425007 | 50425007 | Missense_Mutation | C | T | p.A168T |
| KM12_LARGE_INTESTINE | 50424999 | 50425043 | 50425007 | 50425007 | Missense_Mutation | C | T | p.A168T |
| ASH3_THYROID | 50424999 | 50425043 | 50425007 | 50425007 | Missense_Mutation | C | T | p.A168T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CACNA2D2 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CACNA2D2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CACNA2D2 |
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RelatedDrugs for CACNA2D2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q9NY47 | DB00270 | Isradipine | Voltage-dependent calcium channel subunit alpha-2/delta-2 | small molecule | approved|investigational | |
| Q9NY47 | DB00996 | Gabapentin | Voltage-dependent calcium channel subunit alpha-2/delta-2 | small molecule | approved|investigational | |
| Q9NY47 | DB01023 | Felodipine | Voltage-dependent calcium channel subunit alpha-2/delta-2 | small molecule | approved|investigational | |
| Q9NY47 | DB01054 | Nitrendipine | Voltage-dependent calcium channel subunit alpha-2/delta-2 | small molecule | approved|investigational | |
| Q9NY47 | DB01118 | Amiodarone | Voltage-dependent calcium channel subunit alpha-2/delta-2 | small molecule | approved|investigational | |
| Q9NY47 | DB01244 | Bepridil | Voltage-dependent calcium channel subunit alpha-2/delta-2 | small molecule | approved|withdrawn |
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RelatedDiseases for CACNA2D2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CACNA2D2 | C0004134 | Ataxia | 1 | CTD_human |
| CACNA2D2 | C0008489 | Chorea | 1 | CTD_human |
| CACNA2D2 | C0014553 | Absence Epilepsy | 1 | CTD_human |
| CACNA2D2 | C0021361 | Female infertility | 1 | CTD_human |
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