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mutLBSgeneDB |
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| Gene summary for KCNK2 |
 Gene summary |
| Basic gene Info. | Gene symbol | KCNK2 |
| Gene name | potassium channel, subfamily K, member 2 | |
| Synonyms | K2p2.1|TPKC1|TREK|TREK-1|TREK1|hTREK-1c|hTREK-1e | |
| Cytomap | UCSC genome browser: 1q41 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001017424.2, NM_001017425.2,NM_014217.3, | |
| Description | K2P2.1 potassium channelTREK-1 K(+) channel subunitTWIK-related potassium channel 1outward rectifying potassium channel protein TREK-1potassium channel subfamily K member 2potassium channel subfamily k member 2 variant 1potassium channel subfamily k | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 603219 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000082482 | ||
| Vega : OTTHUMG00000037017 | ||
| Protein | UniProt: O95069 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_KCNK2 | |
| BioGPS: 3776 | ||
| Pathway | NCI Pathway Interaction Database: KCNK2 | |
| KEGG: KCNK2 | ||
| REACTOME: KCNK2 | ||
| Pathway Commons: KCNK2 | ||
| Context | iHOP: KCNK2 | |
| ligand binding site mutation search in PubMed: KCNK2 | ||
| UCL Cancer Institute: KCNK2 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for KCNK2 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R166 | R166L | LUAD | 2 | T210 | T210M | BRCA | 1 | G275 | A274S | COAD | 1 | G201 | G201V | COAD | 1 | W310 | D309N | HNSC | 1 | P131 | P131Q | LUAD | 1 | K206 | V207A | LUAD | 1 | P131 | G133E | SKCM | 1 | T198 | T198I | SKCM | 1 | W310,M306 | G308R | SKCM | 1 | W310 | D309Y | SKCM | 1 | R166 | R166H | STAD | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for KCNK2 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | P131 | P131Q | -1.5439035 | G201 | G201V | -1.2188305 | T198 | T198I | -0.99398214 | R166 | R166H | -0.80432878 | W310 | D309N | -0.77623165 | P131 | G133E | -0.66551938 | T210 | T210M | -0.66218761 | K206 | V207A | -0.62078105 | W310 | G308R | -0.55569664 | M306 | G308R | -0.55569664 | G275 | A274S | -0.52971898 | W310 | D309Y | -0.30415347 | R166 | R166L | -0.18994852 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for KCNK2 from PDB |
| PDB ID | PDB title | PDB structure | 4TWK | Crystal structure of human two pore domain potassium ion channel TREK1 (K2P2.1) |  |
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| Differential gene expression and gene-gene network for KCNK2 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for KCNK2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0011581 | Depressive Disorder | 6 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for KCNK2 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved | DB00204 | Dofetilide | Small molecule |  |
| Approved | DB04855 | Dronedarone | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of KCNK2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of KCNK2 |
| Multiple alignments for O95069 in multiple species |
| LBS | AA sequence | # species | Species | A123 | IQQIVAAINAG | 2 | Homo sapiens, Mus musculus | A123 | IQQIVTAINAG | 1 | Rattus norvegicus | A127 | VAAINAGIIPL | 2 | Homo sapiens, Mus musculus | A127 | VTAINAGIIPL | 1 | Rattus norvegicus | D194 | LAGVGDQLGTI | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | F160 | ITTIGFGNISP | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | G128 | AAINAGIIPLG | 2 | Homo sapiens, Mus musculus | G128 | TAINAGIIPLG | 1 | Rattus norvegicus | G159 | VITTIGFGNIS | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | G161 | TTIGFGNISPR | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | G197 | VGDQLGTIFGK | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | G201 | LGTIFGKGIAK | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | G268 | TLTTIGFGDYV | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | G270 | TTIGFGDYVAG | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | G275 | GDYVAGGSDIE | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | H141 | SNQVSHWDLGS | 2 | Rattus norvegicus, Mus musculus | H141 | SNQISHWDLGS | 1 | Homo sapiens | I121 | ELIQQIVAAIN | 2 | Homo sapiens, Mus musculus | I121 | ELIQQIVTAIN | 1 | Rattus norvegicus | I129 | AINAGIIPLGN | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | I158 | TVITTIGFGNI | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | I204 | IFGKGIAKVED | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | I230 | STIIFILFGCV | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | I267 | ITLTTIGFGDY | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | I95 | SQRTTIVIQKQ | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | K206 | GKGIAKVEDTF | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | K99 | TIVIQKQTFIS | 1 | Homo sapiens | K99 | TIVIQKQNFIA | 1 | Rattus norvegicus | K99 | TIVIQKQTFIA | 1 | Mus musculus | L196 | GVGDQLGTIFG | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | M306 | AAVLSMIGDWL | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | P131 | NAGIIPLGNTS | 1 | Homo sapiens | P131 | NAGIIPLGNNS | 1 | Rattus norvegicus | P131 | NAGIIPLGNSS | 1 | Mus musculus | Q120 | DELIQQIVAAI | 2 | Homo sapiens, Mus musculus | Q120 | DELIQQIVTAI | 1 | Rattus norvegicus | Q91 | PQEISQRTTIV | 2 | Rattus norvegicus, Mus musculus | Q91 | PHEISQRTTIV | 1 | Homo sapiens | Q98 | TTIVIQKQTFI | 2 | Homo sapiens, Mus musculus | Q98 | TTIVIQKQNFI | 1 | Rattus norvegicus | R166 | GNISPRTEGGK | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | S225 | KIRIISTIIFI | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | T157 | GTVITTIGFGN | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | T198 | GDQLGTIFGKG | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | T210 | AKVEDTFIKWN | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | T226 | IRIISTIIFIL | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | T94 | ISQRTTIVIQK | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | W310 | SMIGDWLRVIS | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | Y299 | LVGLAYFAAVL | 3 | Homo sapiens, Rattus norvegicus, Mus musculus |
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