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mutLBSgeneDB |
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| Gene summary for CKMT2 |
 Gene summary |
| Basic gene Info. | Gene symbol | CKMT2 |
| Gene name | creatine kinase, mitochondrial 2 (sarcomeric) | |
| Synonyms | SMTCK | |
| Cytomap | UCSC genome browser: 5q13.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001099735.1, NM_001099736.1,NM_001825.2, | |
| Description | S-MtCKbasic-type mitochondrial creatine kinasecreatine kinase S-type, mitochondrialmib-CKsarcomeric mitochondrial creatine kinase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 123295 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000131730 | ||
| HPRD : 00425 | ||
| Vega : OTTHUMG00000119013 | ||
| Protein | UniProt: P17540 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CKMT2 | |
| BioGPS: 1160 | ||
| Pathway | NCI Pathway Interaction Database: CKMT2 | |
| KEGG: CKMT2 | ||
| REACTOME: CKMT2 | ||
| Pathway Commons: CKMT2 | ||
| Context | iHOP: CKMT2 | |
| ligand binding site mutation search in PubMed: CKMT2 | ||
| UCL Cancer Institute: CKMT2 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to 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 CKMT2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | H225 | D223N | COAD | 1 | D369 | Y368H | COAD | 1 | R164 | R164Q | STAD | 1 | R354 | R354H | 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 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 |
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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 | R164 | R164Q | -1.2465921 | D369 | Y368H | -1.1111311 | H225 | D223N | -1.10174 | R354 | R354H | -0.86155745 |
| (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 |
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| 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) |
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| Phenotype information for CKMT2 |
| 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 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. |
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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|nutraceutical | DB00148 | Creatine | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CKMT2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ADP | ADP | 2gl6 | B | R164 H225 | ADP | ADP | 4z9m | B | R164 H225 | ADP | ADP | 2gl6 | G | R164 H225 D369 | ADP | ADP | 2gl6 | A | R164 H225 R354 D369 | ADP | ADP | 2gl6 | C | R164 H225 R354 D369 | ADP | ADP | 2gl6 | E | R164 H225 R354 D369 | ADP | ADP | 2gl6 | F | R164 H225 R354 D369 | ADP | ADP | 2gl6 | H | R164 H225 R354 D369 | ADP | ADP | 4z9m | A | R164 H225 R354 D369 | ADP | ADP | 4z9m | C | R164 H225 R354 D369 | ADP | ADP | 4z9m | E | R164 H225 R354 D369 | ADP | ADP | 4z9m | F | R164 H225 R354 D369 | ADP | ADP | 4z9m | G | R164 H225 R354 D369 | ADP | ADP | 4z9m | H | R164 H225 R354 D369 | ADP | ADP | 2gl6 | D | R164 R354 D369 | ADP | ADP | 4z9m | D | R164 R354 D369 |
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| Conservation information for LBS of CKMT2 |
| Multiple alignments for P17540 in multiple species |
| LBS | AA sequence | # species | Species | D369 | VADVYDISNID | 3 | Homo sapiens, Bos taurus, Mus musculus | D369 | VADVYDISNLD | 1 | Gallus gallus | G328 | TGLRAGVHVRI | 3 | Homo sapiens, Bos taurus, Mus musculus | G328 | TGLRAGVHVKL | 1 | Gallus gallus | G357 | QKRGTGGVDTA | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | G358 | KRGTGGVDTAA | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | H225 | RLIDDHFLFDK | 3 | Homo sapiens, Bos taurus, Mus musculus | H225 | QLIDDHFLFDK | 1 | Gallus gallus | H330 | LRAGVHVRIPK | 3 | Homo sapiens, Bos taurus, Mus musculus | H330 | LRAGVHVKLPR | 1 | Gallus gallus | M274 | TRVISMEKGGN | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | R164 | YVLSSRVRTGR | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | R166 | LSSRVRTGRSI | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | R326 | LGTGLRAGVHV | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | R354 | LRLQKRGTGGV | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | S162 | ERYVLSSRVRT | 3 | Gallus gallus, Bos taurus, Mus musculus | S162 | EHYVLSSRVRT | 1 | Homo sapiens | T356 | LQKRGTGGVDT | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | V329 | GLRAGVHVRIP | 3 | Homo sapiens, Bos taurus, Mus musculus | V329 | GLRAGVHVKLP | 1 | Gallus gallus | V359 | RGTGGVDTAAV | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | W262 | KTFLIWINEED | 3 | Homo sapiens, Bos taurus, Mus musculus | W262 | KTFLVWINEED | 1 | Gallus gallus |
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