mutLBSgeneDB |
Gene summary for KCNK4 |
Gene summary |
Basic gene Info. | Gene symbol | KCNK4 |
Gene name | potassium channel, subfamily K, member 4 | |
Synonyms | K2p4.1|TRAAK|TRAAK1 | |
Cytomap | UCSC genome browser: 11q13 | |
Type of gene | protein-coding | |
RefGenes | NM_033310.2, NM_016611.2,NM_033311.1, | |
Description | K2P4.1 potassium channelTWIK-related arachidonic acid-stimulated potassium channel proteinpotassium channel subfamily K member 4two pore K(+) channel KT4.1two pore K+ channel KT4.1two pore potassium channel KT4.1 | |
Modification date | 20141207 | |
dbXrefs | MIM : 605720 | |
HGNC : HGNC | ||
Ensembl : ENSG00000182450 | ||
HPRD : 12037 | ||
Vega : OTTHUMG00000168006 | ||
Protein | UniProt: Q9NYG8 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_KCNK4 | |
BioGPS: 50801 | ||
Pathway | NCI Pathway Interaction Database: KCNK4 | |
KEGG: KCNK4 | ||
REACTOME: KCNK4 | ||
Pathway Commons: KCNK4 | ||
Context | iHOP: KCNK4 | |
ligand binding site mutation search in PubMed: KCNK4 | ||
UCL Cancer Institute: KCNK4 | ||
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 KCNK4 |
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. |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | G107 | N108K | BRCA | 1 | V213 | V213L | KIRC | 1 | T211 | T209M | UCEC | 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 KCNK4 |
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 |
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 | T211 | T209M | -0.87761665 | V213 | V213L | -0.63553659 | G107 | N108K | -0.51024074 |
(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 KCNK4 from PDB |
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Differential gene expression and gene-gene network for KCNK4 |
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 KCNK4 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for KCNK4 |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of KCNK4 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 KCNK4 |
Multiple alignments for Q9NYG8 in multiple species |
LBS | AA sequence | # species | Species | D223 | YVPGDGTGQNS | 2 | Mus musculus, Rattus norvegicus | D223 | YVAGADPRQDS | 1 | Homo sapiens | D89 | HSSAWNLGSAF | 2 | Mus musculus, Rattus norvegicus | D89 | HSA-WDLGSAF | 1 | Homo sapiens | F215 | LTTVGFGDYVP | 2 | Mus musculus, Rattus norvegicus | F215 | LTTVGFGDYVA | 1 | Homo sapiens | G105 | IITTIGYGNVA | 1 | Homo sapiens | G105 | IITTIGYGNIV | 1 | Mus musculus | G105 | IITTIGYGNIA | 1 | Rattus norvegicus | G107 | TTIGYGNVALR | 1 | Homo sapiens | G107 | TTIGYGNIVLH | 1 | Mus musculus | G107 | TTIGYGNIALH | 1 | Rattus norvegicus | G214 | TLTTVGFGDYV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G216 | TTVGFGDYVPG | 2 | Mus musculus, Rattus norvegicus | G216 | TTVGFGDYVAG | 1 | Homo sapiens | I104 | TIITTIGYGNI | 2 | Mus musculus, Rattus norvegicus | I104 | TIITTIGYGNV | 1 | Homo sapiens | S86 | NSSNHSSAWNL | 2 | Mus musculus, Rattus norvegicus | S86 | SNSSHSA-WDL | 1 | Homo sapiens | S92 | AWNLGSAFFFS | 2 | Mus musculus, Rattus norvegicus | S92 | -WDLGSAFFFS | 1 | Homo sapiens | T102 | SGTIITTIGYG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T103 | GTIITTIGYGN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T211 | VIVTLTTVGFG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T212 | IVTLTTVGFGD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V213 | VTLTTVGFGDY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y106 | ITTIGYGNVAL | 1 | Homo sapiens | Y106 | ITTIGYGNIVL | 1 | Mus musculus | Y106 | ITTIGYGNIAL | 1 | Rattus norvegicus |
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