mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for CKMT2
Gene summary
Basic gene Info.Gene symbolCKMT2
Gene namecreatine kinase, mitochondrial 2 (sarcomeric)
CytomapUCSC genome browser: 5q13.3
Type of geneprotein-coding
DescriptionS-MtCKbasic-type mitochondrial creatine kinasecreatine kinase S-type, mitochondrialmib-CKsarcomeric mitochondrial creatine kinase
Modification date20141207
dbXrefs MIM : 123295
Ensembl : ENSG00000131730
HPRD : 00425
Vega : OTTHUMG00000119013
ProteinUniProt: P17540
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CKMT2
BioGPS: 1160
PathwayNCI Pathway Interaction Database: CKMT2
Pathway Commons: CKMT2
ContextiHOP: CKMT2
ligand binding site mutation search in PubMed: CKMT2
UCL Cancer Institute: CKMT2
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for CKMT2

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for CKMT2
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.
LBSAAchange of nsSNVRelative stability change
(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 CKMT2 from PDB

Differential gene expression and gene-gene network for CKMT2
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)
* Left PPI network was created from samples with mutations in the LBS of CKMT2 and the right PPI network was created from samples without mutations in the LBS of CKMT2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for CKMT2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for CKMT2
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
Approved|nutraceuticalDB00148CreatineSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CKMT2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ADPADP2gl6BR164 H225
ADPADP4z9mBR164 H225
ADPADP2gl6GR164 H225 D369
ADPADP2gl6AR164 H225 R354 D369
ADPADP2gl6CR164 H225 R354 D369
ADPADP2gl6ER164 H225 R354 D369
ADPADP2gl6FR164 H225 R354 D369
ADPADP2gl6HR164 H225 R354 D369
ADPADP4z9mAR164 H225 R354 D369
ADPADP4z9mCR164 H225 R354 D369
ADPADP4z9mER164 H225 R354 D369
ADPADP4z9mFR164 H225 R354 D369
ADPADP4z9mGR164 H225 R354 D369
ADPADP4z9mHR164 H225 R354 D369
ADPADP2gl6DR164 R354 D369
ADPADP4z9mDR164 R354 D369

Conservation information for LBS of CKMT2
Multiple alignments for P17540 in multiple species
LBSAA sequence# speciesSpecies
D369VADVYDISNID3Homo sapiens, Bos taurus, Mus musculus
D369VADVYDISNLD1Gallus gallus
G328TGLRAGVHVRI3Homo sapiens, Bos taurus, Mus musculus
G328TGLRAGVHVKL1Gallus gallus
G357QKRGTGGVDTA4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
G358KRGTGGVDTAA4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
H225RLIDDHFLFDK3Homo sapiens, Bos taurus, Mus musculus
H225QLIDDHFLFDK1Gallus gallus
H330LRAGVHVRIPK3Homo sapiens, Bos taurus, Mus musculus
H330LRAGVHVKLPR1Gallus gallus
M274TRVISMEKGGN4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
R164YVLSSRVRTGR4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
R166LSSRVRTGRSI4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
R326LGTGLRAGVHV4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
R354LRLQKRGTGGV4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
S162ERYVLSSRVRT3Gallus gallus, Bos taurus, Mus musculus
S162EHYVLSSRVRT1Homo sapiens
T356LQKRGTGGVDT4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
V329GLRAGVHVRIP3Homo sapiens, Bos taurus, Mus musculus
V329GLRAGVHVKLP1Gallus gallus
V359RGTGGVDTAAV4Homo sapiens, Gallus gallus, Bos taurus, Mus musculus
W262KTFLIWINEED3Homo sapiens, Bos taurus, Mus musculus
W262KTFLVWINEED1Gallus gallus

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