mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 IL12B
Gene summary
Basic gene Info.Gene symbolIL12B
Gene nameinterleukin 12B
SynonymsCLMF|CLMF2|IL-12B|IMD28|IMD29|NKSF|NKSF2
CytomapUCSC genome browser: 5q31.1-q33.1
Type of geneprotein-coding
RefGenesNM_002187.2,
DescriptionCLMF p40IL-12 subunit p40IL12, subunit p40NK cell stimulatory factor chain 2cytotoxic lymphocyte maturation factor 40 kDa subunitinterleukin 12, p40interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2,
Modification date20141221
dbXrefs MIM : 161561
HGNC : HGNC
Ensembl : ENSG00000113302
HPRD : 01194
Vega : OTTHUMG00000130307
ProteinUniProt: P29460
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_IL12B
BioGPS: 3593
PathwayNCI Pathway Interaction Database: IL12B
KEGG: IL12B
REACTOME: IL12B
Pathway Commons: IL12B
ContextiHOP: IL12B
ligand binding site mutation search in PubMed: IL12B
UCL Cancer Institute: IL12B
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:0002230positive regulation of defense response to virus by host12421946
GO:0002827positive regulation of T-helper 1 type immune response15114670
GO:0002860positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target7903063
GO:0007050cell cycle arrest16942485
GO:0010224response to UV-B8992506
GO:0010535positive regulation of activation of JAK2 kinase activity12023369
GO:0016477cell migration7903063
GO:0030101natural killer cell activation1673147
GO:0032700negative regulation of interleukin-17 production16482511
GO:0032725positive regulation of granulocyte macrophage colony-stimulating factor production20027291
GO:0032729positive regulation of interferon-gamma production11114383
GO:0032733positive regulation of interleukin-10 production15265908
GO:0032735positive regulation of interleukin-12 production20027291
GO:0032740positive regulation of interleukin-17 production16482511
GO:0032816positive regulation of natural killer cell activation1674604
GO:0032819positive regulation of natural killer cell proliferation19088061
GO:0034393positive regulation of smooth muscle cell apoptotic process16942485
GO:0042093T-helper cell differentiation1673147
GO:0042102positive regulation of T cell proliferation12023369
GO:0042104positive regulation of activated T cell proliferation11114383
GO:0042510regulation of tyrosine phosphorylation of Stat1 protein12023369
GO:0042517positive regulation of tyrosine phosphorylation of Stat3 protein12023369
GO:0042520positive regulation of tyrosine phosphorylation of Stat4 protein11114383
GO:0042523positive regulation of tyrosine phosphorylation of Stat5 protein12023369
GO:0045672positive regulation of osteoclast differentiation17888176
GO:0045785positive regulation of cell adhesion7903063
GO:0048662negative regulation of smooth muscle cell proliferation16942485
GO:0050671positive regulation of lymphocyte proliferation1674604
GO:0050829defense response to Gram-negative bacterium15114670
GO:0051135positive regulation of NK T cell activation19088061
GO:0051142positive regulation of NK T cell proliferation19088061


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Ligand binding site mutations for IL12B
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
 : non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R309R309WGBM1
R309V308MUCEC1
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 IL12B
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
R309R309W-0.73893153
R309V308M-0.4673651
(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 IL12B from PDB

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Differential gene expression and gene-gene network for IL12B
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 IL12B and the right PPI network was created from samples without mutations in the LBS of IL12B. 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 IL12B
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0033860Psoriasis36Biomarker, GeneticVariation
umls:C0010346Crohn Disease19Biomarker, GeneticVariation
umls:C0004096Asthma17Biomarker, GeneticVariation
umls:C0009324Colitis, Ulcerative11Biomarker, GeneticVariation
umls:C0003872Arthritis, Psoriatic10Biomarker, GeneticVariation
umls:C0024141Lupus Erythematosus, Systemic5Biomarker, GeneticVariation
umls:C0038013Spondylitis, Ankylosing3Biomarker, GeneticVariation
umls:C0017638Glioma2GeneticVariation, Therapeutic
umls:C0000786Abortion, Spontaneous1Biomarker
umls:C0020672Hypothermia1Biomarker
umls:C0023892Liver Cirrhosis, Biliary1Biomarker
umls:C0023903Liver Neoplasms1Therapeutic
umls:C0027659Neoplasms, Experimental1Therapeutic
umls:C0034069Pulmonary Fibrosis1Biomarker

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

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Pharmacological information for IL12B
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
ExperimentalDB027635-Mercapto-2-Nitro-Benzoic AcidSmall molecule
InvestigationalDB05459BriakinumabBiotech
Approved|investigationalDB05679UstekinumabBiotech
InvestigationalDB05848humanized SMART Anti-IL-12 AntibodyBiotech

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of IL12B go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of IL12B
Multiple alignments for P29460 in multiple species
LBSAA sequence# speciesSpecies
A304ICRKNASISVR1Homo sapiens
A304ICRKNASFSVQ1Macaca mulatta
A304VCHKDAKIRVQ1Canis lupus familiaris
A304TCHKDANVRVQ1Bos taurus
C274FSLTFCVQVQG2Homo sapiens, Bos taurus
C274FSLTFCIQVQG1Macaca mulatta
C274FSLTFCVQAQG1Canis lupus familiaris
N303VICRKNASISV1Homo sapiens
N303VICRKNASFSV1Macaca mulatta
N303VVCHKDAKIRV1Canis lupus familiaris
N303VTCHKDANVRV1Bos taurus
Q276LTFCVQVQGKS1Homo sapiens
Q276LTFCIQVQGKS1Macaca mulatta
Q276LTFCVQAQGKN1Canis lupus familiaris
Q276LTFCVQVQGKN1Bos taurus
R288REKKDRVFTDK1Homo sapiens
R288REKKDRIFTDK1Macaca mulatta
R288REKKDRLCVDK1Canis lupus familiaris
R288REKK--LFMDQ1Bos taurus
R301ATVICRKNASI1Homo sapiens
R301ATVICRKNASF1Macaca mulatta
R301AKVVCHKDAKI1Canis lupus familiaris
R301AKVTCHKDANV1Bos taurus
R309ASISVRAQDRY1Homo sapiens
R309ASFSVQAQDRY1Macaca mulatta
R309AKIRVQARDRY1Canis lupus familiaris
R309ANVRVQARDRY1Bos taurus
W319YYSSSWSEWAS2Homo sapiens, Macaca mulatta
W319YYSSSWSDWAS1Canis lupus familiaris
W319YYSSFWSEWAS1Bos taurus
W322SSWSEWASVPC2Homo sapiens, Macaca mulatta
W322SSWSDWASVSC1Canis lupus familiaris
W322SFWSEWASVSC1Bos taurus


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