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mutLBSgeneDB |
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| Gene summary for KCND3 |
 Gene summary |
| Basic gene Info. | Gene symbol | KCND3 |
| Gene name | potassium voltage-gated channel, Shal-related subfamily, member 3 | |
| Synonyms | KCND3L|KCND3S|KSHIVB|KV4.3|SCA19|SCA22 | |
| Cytomap | UCSC genome browser: 1p13.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_004980.4, NM_172198.2, | |
| Description | potassium ionic channel Kv4.3potassium voltage-gated channel subfamily D member 3sha1-related potassium channel Kv4.3voltage-gated K+ channelvoltage-gated potassium channel subunit Kv4.3 | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 605411 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000171385 | ||
| HPRD : 16104 | ||
| Vega : OTTHUMG00000011989 | ||
| Protein | UniProt: Q9UK17 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_KCND3 | |
| BioGPS: 3752 | ||
| Pathway | NCI Pathway Interaction Database: KCND3 | |
| KEGG: KCND3 | ||
| REACTOME: KCND3 | ||
| Pathway Commons: KCND3 | ||
| Context | iHOP: KCND3 | |
| ligand binding site mutation search in PubMed: KCND3 | ||
| UCL Cancer Institute: KCND3 | ||
| 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 | GO:0071435 | potassium ion export | 21493962 | GO:0086009 | membrane repolarization | 21493962 |
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| Ligand binding site mutations for KCND3 |
| 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 | H104 | P106T | SKCM | 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 KCND3 |
| 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 | H104 | P106T | -1.0713446 |
| (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 KCND3 from PDB |
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| Differential gene expression and gene-gene network for KCND3 |
| 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 KCND3 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1846367 | Spinocerebellar ataxia 19 | 2 | GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for KCND3 |
| 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 | DB00280 | Disopyramide | Small molecule |  |
| Approved | DB00321 | Amitriptyline | Small molecule |  |
| Approved | DB00458 | Imipramine | Small molecule |  |
| Approved | DB06637 | Dalfampridine | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of KCND3 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 1s1g | A | H104 | ZN | ZINC(2+) | 1s1g | B | H104 | ZN | ZINC(2+) | 2nz0 | B | H104 | ZN | ZINC(2+) | 2nz0 | D | H104 |
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| Conservation information for LBS of KCND3 |
| Multiple alignments for Q9UK17 in multiple species |
| LBS | AA sequence | # species | Species | C131 | EIIGDCCYEEY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C132 | IIGDCCYEEYK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H104 | RTGKLHYPRYE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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