mutLBSgeneDB |
Gene summary for MAP3K12 |
Gene summary |
Basic gene Info. | Gene symbol | MAP3K12 |
Gene name | mitogen-activated protein kinase kinase kinase 12 | |
Synonyms | DLK|MEKK12|MUK|ZPK|ZPKP1 | |
Cytomap | UCSC genome browser: 12q13 | |
Type of gene | protein-coding | |
RefGenes | NM_001193511.1, NM_006301.3, | |
Description | MAPK-upstream kinasedual leucine zipper bearing kinasedual leucine zipper kinase DLKleucine zipper protein kinasemixed lineage kinaseprotein kinase MUK | |
Modification date | 20141207 | |
dbXrefs | MIM : 600447 | |
HGNC : HGNC | ||
Ensembl : ENSG00000139625 | ||
HPRD : 02709 | ||
Vega : OTTHUMG00000169854 | ||
Protein | UniProt: Q12852 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_MAP3K12 | |
BioGPS: 7786 | ||
Pathway | NCI Pathway Interaction Database: MAP3K12 | |
KEGG: MAP3K12 | ||
REACTOME: MAP3K12 | ||
Pathway Commons: MAP3K12 | ||
Context | iHOP: MAP3K12 | |
ligand binding site mutation search in PubMed: MAP3K12 | ||
UCL Cancer Institute: MAP3K12 | ||
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 | GO:0006468 | protein phosphorylation | 14697235 |
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Ligand binding site mutations for MAP3K12 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | Q136 | Q136K | LUAD | 1 | A194 | A194T | STAD | 1 | L243 | T245A | 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 MAP3K12 |
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 | L243 | T245A | -1.6649726 | A194 | A194T | -0.58198009 | Q136 | Q136K | -0.45025859 |
(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 MAP3K12 from PDB |
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Differential gene expression and gene-gene network for MAP3K12 |
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 MAP3K12 |
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 MAP3K12 |
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 status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of MAP3K12 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 50D | 2-[[6-[3,3-BIS(FLUORANYL)PYRROLIDIN-1-YL]-4-[1-(OXETAN- 3-YL)PIPERIDIN-4-YL]PYRIDIN-2-YL]AMINO]PYRIDINE-4- CARBONITRILE | 5ceo | A | A194 L243 | 50F | 2-[[1-CYCLOPENTYL-5-[1-(OXETAN-3-YL)PIPERIDIN-4- YL]PYRAZOL-3-YL]AMINO]PYRIDINE-4-CARBONITRILE | 5ceq | A | L243 | 50E | N-(5-PIPERIDIN-4-YL-1-PROPAN-2-YL-PYRAZOL-3-YL)-4- (TRIFLUOROMETHYL)PYRIDIN-2-AMINE | 5cep | A | Q136 L243 |
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Conservation information for LBS of MAP3K12 |
Multiple alignments for Q12852 in multiple species |
LBS | AA sequence | # species | Species | A150 | HGEEVAVKKVR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A194 | LMEFCAQGQLY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C193 | ILMEFCAQGQL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E191 | YCILMEFCAQG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F192 | CILMEFCAQGQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G132 | DLQWVGSGAQG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G134 | QWVGSGAQGAV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G196 | EFCAQGQLYEV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L243 | KSPNMLITYDD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M190 | CYCILMEFCAQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q136 | VGSGAQGAVFL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q195 | MEFCAQGQLYE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q197 | FCAQGQLYEVL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S133 | LQWVGSGAQGA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V139 | GAQGAVFLGRF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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