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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 KCNN2 |
 Gene summary |
| Gene information | Gene symbol | KCNN2 | Gene ID | 3781 |
| Gene name | potassium calcium-activated channel subfamily N member 2 | |
| Synonyms | KCa2.2|SK2|SKCA2|SKCa 2|hSK2 | |
| Cytomap | 5q22.3 | |
| Type of gene | protein-coding | |
| Description | small conductance calcium-activated potassium channel protein 2apamin-sensitive small-conductance Ca2+-activated potassium channelpotassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 2potassium intermediate/smal | |
| Modification date | 20180523 | |
| UniProtAcc | Q9H2S1 | |
| Context | PubMed: KCNN2 [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 |
| KCNN2 | GO:0071805 | potassium ion transmembrane transport | 17110593|24951510 |
| KCNN2 | GO:1901379 | regulation of potassium ion transmembrane transport | 17110593 |
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Exon skipping events across known transcript of Ensembl for KCNN2 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 KCNN2 |
| 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 KCNN2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_436773 | 5 | 113699602:113699698:113740134:113740553:113798745:113798887 | 113740134:113740553 | ENSG00000080709.10 | ENST00000512097.3,ENST00000264773.3 |
| exon_skip_436774 | 5 | 113798745:113798887:113808750:113808861:113822746:113822874 | 113808750:113808861 | ENSG00000080709.10 | ENST00000503706.1,ENST00000507750.1,ENST00000512097.3,ENST00000264773.3 |
| exon_skip_436775 | 5 | 113808750:113808861:113822394:113822500:113822746:113822874 | 113822394:113822500 | ENSG00000080709.10 | ENST00000505491.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KCNN2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_436773 | 5 | 113699602:113699698:113740134:113740553:113798745:113798887 | 113740134:113740553 | ENSG00000080709.10 | ENST00000512097.3,ENST00000264773.3 |
| exon_skip_436774 | 5 | 113798745:113798887:113808750:113808861:113822746:113822874 | 113808750:113808861 | ENSG00000080709.10 | ENST00000512097.3,ENST00000264773.3,ENST00000507750.1,ENST00000503706.1 |
| exon_skip_436775 | 5 | 113808750:113808861:113822394:113822500:113822746:113822874 | 113822394:113822500 | ENSG00000080709.10 | ENST00000505491.1 |
| 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 KCNN2 |
| 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 |
| ENST00000264773 | 113740134 | 113740553 | Frame-shift |
| ENST00000264773 | 113808750 | 113808861 | 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 |
| ENST00000264773 | 113740134 | 113740553 | Frame-shift |
| ENST00000264773 | 113808750 | 113808861 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KCNN2 |
| 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 |
| ENST00000264773 | 2532 | 579 | 113808750 | 113808861 | 1601 | 1711 | 381 | 418 |
| 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 |
| ENST00000264773 | 2532 | 579 | 113808750 | 113808861 | 1601 | 1711 | 381 | 418 |
| 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 |
| Q9H2S1 | 381 | 418 | 1 | 579 | Chain | ID=PRO_0000155010;Note=Small conductance calcium-activated potassium channel protein 2 |
| Q9H2S1 | 381 | 418 | 410 | 412 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WBX |
| Q9H2S1 | 381 | 418 | 413 | 438 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5V02 |
| Q9H2S1 | 381 | 418 | 412 | 488 | Region | Note=Calmodulin-binding;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9H2S1 | 381 | 418 | 374 | 394 | Transmembrane | Note=Helical%3B Name%3DSegment S6;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 |
| Q9H2S1 | 381 | 418 | 1 | 579 | Chain | ID=PRO_0000155010;Note=Small conductance calcium-activated potassium channel protein 2 |
| Q9H2S1 | 381 | 418 | 410 | 412 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WBX |
| Q9H2S1 | 381 | 418 | 413 | 438 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5V02 |
| Q9H2S1 | 381 | 418 | 412 | 488 | Region | Note=Calmodulin-binding;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9H2S1 | 381 | 418 | 374 | 394 | Transmembrane | Note=Helical%3B Name%3DSegment S6;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for KCNN2 |
| - 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-A39Y-01 | exon_skip_436773 | 113740135 | 113740553 | 113740310 | 113740310 | Frame_Shift_Del | A | - | p.D253fs |
| BRCA | TCGA-AN-A0FT-01 | exon_skip_436773 | 113740135 | 113740553 | 113740533 | 113740533 | Nonsense_Mutation | G | A | p.W327* |
| - 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 |
| MDAPCA2B_PROSTATE | 113808751 | 113808861 | 113808815 | 113808815 | Frame_Shift_Del | A | - | p.E403fs |
| EN_ENDOMETRIUM | 113740135 | 113740553 | 113740189 | 113740189 | Missense_Mutation | C | T | p.R213C |
| NCIH1648_LUNG | 113740135 | 113740553 | 113740190 | 113740190 | Missense_Mutation | G | T | p.R213L |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 113740135 | 113740553 | 113740205 | 113740205 | Missense_Mutation | G | T | p.C218F |
| HEC1B_ENDOMETRIUM | 113740135 | 113740553 | 113740267 | 113740267 | Missense_Mutation | G | A | p.A239T |
| NCIH1651_LUNG | 113740135 | 113740553 | 113740270 | 113740270 | Missense_Mutation | C | T | p.R240W |
| LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM | 113740135 | 113740553 | 113740283 | 113740283 | Missense_Mutation | C | G | p.S244C |
| HCC2998_LARGE_INTESTINE | 113740135 | 113740553 | 113740324 | 113740324 | Missense_Mutation | T | G | p.L258V |
| NCIH661_LUNG | 113740135 | 113740553 | 113740334 | 113740334 | Missense_Mutation | C | A | p.P261Q |
| KGN_OVARY | 113740135 | 113740553 | 113740336 | 113740336 | Missense_Mutation | A | G | p.M262V |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 113740135 | 113740553 | 113740441 | 113740441 | Missense_Mutation | A | C | p.N297H |
| NCIH23_LUNG | 113740135 | 113740553 | 113740445 | 113740445 | Missense_Mutation | C | T | p.T298I |
| SW403_LARGE_INTESTINE | 113740135 | 113740553 | 113740450 | 113740450 | Missense_Mutation | T | A | p.F300I |
| M059J_CENTRAL_NERVOUS_SYSTEM | 113740135 | 113740553 | 113740462 | 113740462 | Missense_Mutation | A | G | p.T304A |
| TT_THYROID | 113740135 | 113740553 | 113740525 | 113740525 | Missense_Mutation | G | A | p.A325T |
| SH4_SKIN | 113740135 | 113740553 | 113740538 | 113740538 | Missense_Mutation | T | G | p.V329G |
| SW1783_CENTRAL_NERVOUS_SYSTEM | 113808751 | 113808861 | 113808794 | 113808794 | Missense_Mutation | A | G | p.K396R |
| NUGC3_STOMACH | 113808751 | 113808861 | 113808823 | 113808823 | Missense_Mutation | G | A | p.V406M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KCNN2 |
| 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 KCNN2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KCNN2 |
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RelatedDrugs for KCNN2 |
| 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 |
| Q9H2S1 | DB01110 | Miconazole | Small conductance calcium-activated potassium channel protein 2 | small molecule | approved|investigational|vet_approved |
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RelatedDiseases for KCNN2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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