mutLBSgeneDB |
Gene summary for KCNIP3 |
Gene summary |
Basic gene Info. | Gene symbol | KCNIP3 |
Gene name | Kv channel interacting protein 3, calsenilin | |
Synonyms | CSEN|DREAM|KCHIP3 | |
Cytomap | UCSC genome browser: 2q21.1 | |
Type of gene | protein-coding | |
RefGenes | NM_001034914.1, NM_013434.4, | |
Description | A-type potassium channel modulatory protein 3DRE-antagonist modulatorcalsenilincalsenilin, presenilin-binding protein, EF hand transcription factorkv channel-interacting protein 3potassium channel interacting protein 3 | |
Modification date | 20141207 | |
dbXrefs | MIM : 604662 | |
HGNC : HGNC | ||
Ensembl : ENSG00000115041 | ||
HPRD : 05232 | ||
Vega : OTTHUMG00000130392 | ||
Protein | UniProt: Q9Y2W7 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_KCNIP3 | |
BioGPS: 30818 | ||
Pathway | NCI Pathway Interaction Database: KCNIP3 | |
KEGG: KCNIP3 | ||
REACTOME: KCNIP3 | ||
Pathway Commons: KCNIP3 | ||
Context | iHOP: KCNIP3 | |
ligand binding site mutation search in PubMed: KCNIP3 | ||
UCL Cancer Institute: KCNIP3 | ||
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 KCNIP3 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | D179 | D179G | COAD | 1 | N177,D179 | K178N | 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 KCNIP3 |
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 | N177 | K178N | -1.2485272 | D179 | K178N | -1.2485272 | D179 | D179G | -0.77075156 |
(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 KCNIP3 from PDB |
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Differential gene expression and gene-gene network for KCNIP3 |
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 KCNIP3 |
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 KCNIP3 |
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 KCNIP3 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 2e6w | A | N177 D179 |
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Conservation information for LBS of KCNIP3 |
Multiple alignments for Q9Y2W7 in multiple species |
LBS | AA sequence | # species | Species | D175 | AFNLYDINKDG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D179 | YDINKDGYITK | 2 | Homo sapiens, Rattus norvegicus | D179 | YDINKDGCITK | 1 | Mus musculus | D223 | FFQKMDRNQDG | 2 | Mus musculus, Rattus norvegicus | D223 | FFEKMDRNQDG | 1 | Homo sapiens | D227 | MDRNQDGVVTI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E186 | YITKEEMLAIM | 2 | Homo sapiens, Rattus norvegicus | E186 | CITKEEMLAIM | 1 | Mus musculus | E234 | VVTIDEFLETC | 2 | Mus musculus, Rattus norvegicus | E234 | VVTIEEFLEAC | 1 | Homo sapiens | N177 | NLYDINKDGYI | 2 | Homo sapiens, Rattus norvegicus | N177 | NLYDINKDGCI | 1 | Mus musculus | N225 | QKMDRNQDGVV | 2 | Mus musculus, Rattus norvegicus | N225 | EKMDRNQDGVV | 1 | Homo sapiens | T231 | QDGVVTIDEFL | 2 | Mus musculus, Rattus norvegicus | T231 | QDGVVTIEEFL | 1 | Homo sapiens | V229 | RNQDGVVTIDE | 2 | Mus musculus, Rattus norvegicus | V229 | RNQDGVVTIEE | 1 | Homo sapiens | V230 | NQDGVVTIDEF | 2 | Mus musculus, Rattus norvegicus | V230 | NQDGVVTIEEF | 1 | Homo sapiens | Y181 | INKDGYITKEE | 2 | Homo sapiens, Rattus norvegicus | Y181 | INKDGCITKEE | 1 | Mus musculus |
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