mutLBSgeneDB

mutLBSgeneDB
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 MAP3K12
Gene summary
Basic gene Info.Gene symbolMAP3K12
Gene namemitogen-activated protein kinase kinase kinase 12
SynonymsDLK|MEKK12|MUK|ZPK|ZPKP1
CytomapUCSC genome browser: 12q13
Type of geneprotein-coding
RefGenesNM_001193511.1,
NM_006301.3,
DescriptionMAPK-upstream kinasedual leucine zipper bearing kinasedual leucine zipper kinase DLKleucine zipper protein kinasemixed lineage kinaseprotein kinase MUK
Modification date20141207
dbXrefs MIM : 600447
HGNC : HGNC
Ensembl : ENSG00000139625
HPRD : 02709
Vega : OTTHUMG00000169854
ProteinUniProt: Q12852
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MAP3K12
BioGPS: 7786
PathwayNCI Pathway Interaction Database: MAP3K12
KEGG: MAP3K12
REACTOME: MAP3K12
Pathway Commons: MAP3K12
ContextiHOP: MAP3K12
ligand binding site mutation search in PubMed: MAP3K12
UCL Cancer Institute: MAP3K12
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006468protein phosphorylation14697235


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Ligand binding site mutations for MAP3K12

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
Q136Q136KLUAD1
A194A194TSTAD1
L243T245ASTAD1
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.
LBSAAchange of nsSNVRelative stability change
L243T245A-1.6649726
A194A194T-0.58198009
Q136Q136K-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)
* Left PPI network was created from samples with mutations in the LBS of MAP3K12 and the right PPI network was created from samples without mutations in the LBS of MAP3K12. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for MAP3K12
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype 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 statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of MAP3K12 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
50D2-[[6-[3,3-BIS(FLUORANYL)PYRROLIDIN-1-YL]-4-[1-(OXETAN- 3-YL)PIPERIDIN-4-YL]PYRIDIN-2-YL]AMINO]PYRIDINE-4- CARBONITRILE5ceoAA194 L243
50F2-[[1-CYCLOPENTYL-5-[1-(OXETAN-3-YL)PIPERIDIN-4- YL]PYRAZOL-3-YL]AMINO]PYRIDINE-4-CARBONITRILE5ceqAL243
50EN-(5-PIPERIDIN-4-YL-1-PROPAN-2-YL-PYRAZOL-3-YL)-4- (TRIFLUOROMETHYL)PYRIDIN-2-AMINE5cepAQ136 L243


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Conservation information for LBS of MAP3K12
Multiple alignments for Q12852 in multiple species
LBSAA sequence# speciesSpecies
A150HGEEVAVKKVR3Homo sapiens, Mus musculus, Rattus norvegicus
A194LMEFCAQGQLY3Homo sapiens, Mus musculus, Rattus norvegicus
C193ILMEFCAQGQL3Homo sapiens, Mus musculus, Rattus norvegicus
E191YCILMEFCAQG3Homo sapiens, Mus musculus, Rattus norvegicus
F192CILMEFCAQGQ3Homo sapiens, Mus musculus, Rattus norvegicus
G132DLQWVGSGAQG3Homo sapiens, Mus musculus, Rattus norvegicus
G134QWVGSGAQGAV3Homo sapiens, Mus musculus, Rattus norvegicus
G196EFCAQGQLYEV3Homo sapiens, Mus musculus, Rattus norvegicus
L243KSPNMLITYDD3Homo sapiens, Mus musculus, Rattus norvegicus
M190CYCILMEFCAQ3Homo sapiens, Mus musculus, Rattus norvegicus
Q136VGSGAQGAVFL3Homo sapiens, Mus musculus, Rattus norvegicus
Q195MEFCAQGQLYE3Homo sapiens, Mus musculus, Rattus norvegicus
Q197FCAQGQLYEVL3Homo sapiens, Mus musculus, Rattus norvegicus
S133LQWVGSGAQGA3Homo sapiens, Mus musculus, Rattus norvegicus
V139GAQGAVFLGRF3Homo sapiens, Mus musculus, Rattus norvegicus


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