mutLBSgeneDB |
Gene summary for CKMT2 |
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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. |
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GO ID | GO Term | PubMed ID |
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Ligand binding site mutations for CKMT2 |
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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 |
![]() Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
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![]() 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) |
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Differential gene expression and gene-gene network for CKMT2 |
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Phenotype information for CKMT2 |
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Disease ID | Disease name | # PubMed | Association type |
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Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for CKMT2 |
![]() 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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Drug status | DrugBank ID | Name | Type | Drug structure |
Approved|nutraceutical | DB00148 | Creatine | Small molecule | ![]() |
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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 |
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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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