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 IL6
Gene summary
Basic gene Info.Gene symbolIL6
Gene nameinterleukin 6
SynonymsBSF2|HGF|HSF|IFNB2|IL-6
CytomapUCSC genome browser: 7p21
Type of geneprotein-coding
RefGenesNM_000600.3,
DescriptionB-cell differentiation factorB-cell stimulatory factor 2BSF-2CDFCTL differentiation factorIFN-beta-2hybridoma growth factorinterferon beta-2interferon, beta 2interleukin BSF-2interleukin-6
Modification date20141222
dbXrefs MIM : 147620
HGNC : HGNC
Ensembl : ENSG00000136244
HPRD : 00970
ProteinUniProt: P05231
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_IL6
BioGPS: 3569
PathwayNCI Pathway Interaction Database: IL6
KEGG: IL6
REACTOME: IL6
Pathway Commons: IL6
ContextiHOP: IL6
ligand binding site mutation search in PubMed: IL6
UCL Cancer Institute: IL6
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:0001781neutrophil apoptotic process7595060
GO:0002384hepatic immune response2444978
GO:0002675positive regulation of acute inflammatory response2444978
GO:0006954inflammatory response10443688
GO:0008284positive regulation of cell proliferation2261637
GO:0010574regulation of vascular endothelial growth factor production8557680
GO:0019221cytokine-mediated signaling pathway12643274
GO:0032722positive regulation of chemokine production10510402
GO:0032755positive regulation of interleukin-6 production10510402
GO:0032966negative regulation of collagen biosynthetic process12419823
GO:0033138positive regulation of peptidyl-serine phosphorylation7508917
GO:0042102positive regulation of T cell proliferation3130269
GO:0042517positive regulation of tyrosine phosphorylation of Stat3 protein12643274
GO:0043065positive regulation of apoptotic process9949178
GO:0043066negative regulation of apoptotic process7595060
GO:0043410positive regulation of MAPK cascade12419823
GO:0045727positive regulation of translation16732314
GO:0045893positive regulation of transcription, DNA-templated7749983
GO:0045944positive regulation of transcription from RNA polymerase II promoter17324931
GO:0046427positive regulation of JAK-STAT cascade12419823
GO:0048661positive regulation of smooth muscle cell proliferation10510402
GO:0050731positive regulation of peptidyl-tyrosine phosphorylation7508917
GO:0050871positive regulation of B cell activation3491322
GO:0051024positive regulation of immunoglobulin secretion3491322
GO:0051091positive regulation of sequence-specific DNA binding transcription factor activity7749983
GO:0051092positive regulation of NF-kappaB transcription factor activity12419823
GO:0051384response to glucocorticoid10443688
GO:0051607defense response to virus3023045
GO:0070102interleukin-6-mediated signaling pathway12552091
GO:0070301cellular response to hydrogen peroxide19168699


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Ligand binding site mutations for IL6
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
D62D62NCOAD2
D62G63SCOAD1
R58R58QCOAD1
R52I53TSKCM1
R141,Q139A140GSKCM1
R207R207WUCEC1
R52E51QUCEC1
E137E137KUCEC1
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.

Clinical information for IL6 from My Cancer Genome.
Interleukin 6 (IL6) is a gene that encodes a cytokine protein that functions in inflammation and regulates the maturation of B cells. The protein also functions as an endogenous pyrogen. Missense mutations, silent mutations, and frameshift deletions are observed in cancers such as endometrial cancer, intestinal cancer, and lung cancer.Modified: July 1, 2015

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Protein structure related information for IL6
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
R52I53T-1.3430825
R52E51Q-1.2501358
R58R58Q-1.2324292
R141A140G-1.0367808
Q139A140G-1.0367808
D62D62N-0.63679205
D62G63S-0.55203184
E137E137K-0.41826713
R207R207W-0.28268703
(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 IL6 from PDB
PDB IDPDB titlePDB structure
1ALUHUMAN INTERLEUKIN-6

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Differential gene expression and gene-gene network for IL6
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 IL6 and the right PPI network was created from samples without mutations in the LBS of IL6. 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 IL6
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0026764Multiple Myeloma235AlteredExpression, Biomarker, GeneticVariation
umls:C0003873Arthritis, Rheumatoid172Biomarker, GeneticVariation
umls:C2239176Carcinoma, Hepatocellular131Biomarker, GeneticVariation
umls:C0028754Obesity107Biomarker, GeneticVariation
umls:C0011860Diabetes Mellitus, Type 276AlteredExpression, Biomarker, GeneticVariation
umls:C0027627Neoplasm Metastasis72AlteredExpression, Biomarker
umls:C0021368Inflammation69AlteredExpression, Biomarker, GeneticVariation
umls:C0004153Atherosclerosis52AlteredExpression, Biomarker, GeneticVariation
umls:C0027051Myocardial Infarction49AlteredExpression, Biomarker, GeneticVariation
umls:C0024141Lupus Erythematosus, Systemic48AlteredExpression, Biomarker, GeneticVariation
umls:C0029456Osteoporosis30Biomarker, GeneticVariation
umls:C0038454Stroke29Biomarker, GeneticVariation
umls:C0010346Crohn Disease29Biomarker, GeneticVariation
umls:C0004364Autoimmune Diseases29Biomarker, GeneticVariation
umls:C1458155Breast Neoplasms27AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification
umls:C0021390Inflammatory Bowel Diseases27Biomarker, GeneticVariation
umls:C0033578Prostatic Neoplasms25AlteredExpression, Biomarker, GeneticVariation, Therapeutic
umls:C0524620Metabolic Syndrome X25Biomarker, GeneticVariation
umls:C0022661Kidney Failure, Chronic23Biomarker, GeneticVariation
umls:C0033860Psoriasis23AlteredExpression, Biomarker, GeneticVariation
umls:C0009319Colitis22Biomarker
umls:C0038356Stomach Neoplasms16AlteredExpression, Biomarker, GeneticVariation
umls:C0006625Cachexia16Biomarker, GeneticVariation
umls:C0011615Dermatitis, Atopic16Biomarker, GeneticVariation
umls:C0022116Ischemia15Biomarker, GeneticVariation
umls:C0023434Leukemia, Lymphocytic, Chronic, B-Cell15Biomarker, GeneticVariation
umls:C0018801Heart Failure14Biomarker, GeneticVariation
umls:C0029458Osteoporosis, Postmenopausal13Biomarker, GeneticVariation
umls:C0034069Pulmonary Fibrosis13Biomarker, GeneticVariation
umls:C0023890Liver Cirrhosis13Biomarker, GeneticVariation
umls:C0032285Pneumonia13AlteredExpression, Biomarker
umls:C0206698Cholangiocarcinoma12AlteredExpression, Biomarker
umls:C0011581Depressive Disorder12Biomarker, GeneticVariation
umls:C0036341Schizophrenia11Biomarker, GeneticVariation
umls:C0036220Sarcoma, Kaposi10AlteredExpression, Biomarker, GeneticVariation
umls:C0007786Brain Ischemia8Biomarker, GeneticVariation
umls:C0151744Myocardial Ischemia8Biomarker, GeneticVariation
umls:C0919267Ovarian Neoplasms7Biomarker, GeneticVariation
umls:C0037274Skin Diseases7Biomarker, GeneticVariation
umls:C0035126Reperfusion Injury6Biomarker, GeneticVariation
umls:C0006434Burns6Biomarker, GeneticVariation
umls:C0022876Obstetric Labor, Premature6Biomarker, GeneticVariation
umls:C0524851Neurodegenerative Diseases6Biomarker
umls:C0043251Wounds and Injuries5Biomarker, GeneticVariation
umls:C0030567Parkinson Disease5Biomarker, GeneticVariation
umls:C0017658Glomerulonephritis5Biomarker, GeneticVariation
umls:C0878544Cardiomyopathies5Biomarker
umls:C0020437Hypercalcemia5Biomarker
umls:C0036572Seizures5Biomarker, GeneticVariation
umls:C0993582Arthritis, Experimental5Biomarker
umls:C0011853Diabetes Mellitus, Experimental4Biomarker
umls:C0020429Hyperalgesia4Biomarker
umls:C0017531Giant Lymph Node Hyperplasia4Biomarker
umls:C0023891Liver Cirrhosis, Alcoholic4Biomarker, GeneticVariation
umls:C0270611Brain Injuries4Biomarker, GeneticVariation
umls:C0015967Fever4Biomarker, GeneticVariation
umls:C0004352Autistic Disorder4Biomarker
umls:C0007117Carcinoma, Basal Cell3AlteredExpression, Biomarker, GeneticVariation
umls:C0000786Abortion, Spontaneous3Biomarker, GeneticVariation
umls:C0020517Hypersensitivity3Biomarker, GeneticVariation
umls:C0002622Amnesia3Biomarker, GeneticVariation, Therapeutic
umls:C0018681Headache3Biomarker
umls:C0023290Leishmaniasis, Visceral3Biomarker
umls:C0036982Shock, Hemorrhagic2Biomarker
umls:C0007772Intracranial Arteriovenous Malformations2Biomarker, GeneticVariation
umls:C0860207Drug-Induced Liver Injury2GeneticVariation, Therapeutic
umls:C0013604Edema2Biomarker, GeneticVariation
umls:C0019061Hemolytic-Uremic Syndrome2Biomarker
umls:C0031117Peripheral Nervous System Diseases2Biomarker, Therapeutic
umls:C0085655Polymyositis2Biomarker
umls:C0020649Hypotension2Biomarker
umls:C1858558Rheumatoid Arthritis, Systemic Juvenile1Biomarker
umls:C2609414Acute Kidney Injury1Therapeutic
umls:C0001925Albuminuria1Biomarker
umls:C0005138Berylliosis1Biomarker
umls:C0006435Burns, Chemical1Biomarker
umls:C0007621Cell Transformation, Neoplastic1Biomarker
umls:C0008370Cholestasis1Biomarker
umls:C0014324Entamoebiasis1Biomarker
umls:C0018843Heat Stroke1Biomarker
umls:C0241910Hepatitis, Autoimmune1Biomarker
umls:C0019284Hernia, Diaphragmatic1Biomarker
umls:C0343755HIV Wasting Syndrome1Biomarker
umls:C0020500Hyperoxaluria1Biomarker
umls:C0020503Hyperparathyroidism, Secondary1Biomarker
umls:C0239981Hypoalbuminemia1Biomarker
umls:C0740392Infarction, Middle Cerebral Artery1Biomarker
umls:C0023281Leishmaniasis1Biomarker
umls:C0162848Lichenoid Eruptions1Biomarker
umls:C0273115Lung Injury1Biomarker
umls:C0025290Meningitis, Aseptic1Biomarker
umls:C0162670Mitochondrial Myopathies1Biomarker
umls:C0027540Necrosis1Biomarker
umls:C0032231Pleurisy1Biomarker
umls:C0032963Pregnancy Complications, Cardiovascular1Biomarker
umls:C0035228Respiratory Hypersensitivity1Biomarker
umls:C0242698Ventricular Dysfunction, Left1Biomarker

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

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Pharmacological information for IL6
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
Approved|nutraceuticalDB01404GinsengSmall molecule
InvestigationalDB05017YSIL6Small molecule
InvestigationalDB05066AV411Small molecule
InvestigationalDB05250681323Small molecule
InvestigationalDB05470VX-702Small molecule
InvestigationalDB05744CRx-139Small molecule
InvestigationalDB05767HMPL-004Small molecule
ApprovedDB09036SiltuximabBiotech

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of IL6 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of IL6
Multiple alignments for P05231 in multiple species
LBSAA sequence# speciesSpecies
A142EEQARAVQMST1Homo sapiens
A142KQNVESLCYST1Gallus gallus
A142KDKARVLQRDT1Mus musculus
A142KDKARVIQSNT1Rattus norvegicus
A142KENVKSVHMST1Canis lupus familiaris
D62IRYILDGISAL1Homo sapiens
D62LR---DRAVQL1Gallus gallus
D62ITHVLWEIVEM1Mus musculus
D62ITYVLREILEM1Rattus norvegicus
D62IKYILGKISAL1Canis lupus familiaris
E137F-ESSEEQARA1Homo sapiens
E137F-DSEKQNVES1Gallus gallus
E137LKDNKKDKARV1Mus musculus
E137LQDNKKDKARV1Rattus norvegicus
E137Y-EGDKENVKS1Canis lupus familiaris
E138-ESSEEQARAV1Homo sapiens
E138-DSEKQNVESL1Gallus gallus
E138KDNKKDKARVL1Mus musculus
E138QDNKKDKARVI1Rattus norvegicus
E138-EGDKENVKSV1Canis lupus familiaris
F153KVLIQFLQKKA1Homo sapiens
F153KHLAATIRQMV1Gallus gallus
F153ETLIHIFNQEV1Mus musculus
F153ETLVHIFKQEI1Rattus norvegicus
F153KILVQMLKSKV1Canis lupus familiaris
K199ILRSFKEFLQS1Homo sapiens
K199ILRDFTSFMEK1Gallus gallus
K199ILKSLEEFLKV1Mus musculus
K199ILKALEEFLKV1Rattus norvegicus
K199ILRSLEDFLQF1Canis lupus familiaris
K55SERIDKQIRYI1Homo sapiens
K55CEPLARVLR--1Gallus gallus
K55TSQVGGLITHV1Mus musculus
K55TSQVGGLITYV1Rattus norvegicus
K55ANKVEELIKYI1Canis lupus familiaris
L206FLQSSLRALRQ1Homo sapiens
L206FMEKTVRAVRY1Gallus gallus
L206FLKVTLRSTRQ1Mus musculus
L206FLKVTMRSTRQ1Rattus norvegicus
L206FLQFSLRAVRI1Canis lupus familiaris
L47PHRQPLTSSER1Homo sapiens
L47GARRALLDCEP1Gallus gallus
L47PNR-PVYTTSQ1Mus musculus
L47HNR-PVYTTSQ1Rattus norvegicus
L47SNSLPLTSANK1Canis lupus familiaris
L61QIRYILDGISA1Homo sapiens
L61VLR---DRAVQ1Gallus gallus
L61LITHVLWEIVE1Mus musculus
L61LITYVLREILE1Rattus norvegicus
L61LIKYILGKISA1Canis lupus familiaris
M145ARAVQMSTKVL1Homo sapiens
M145VESLCYSTKHL1Gallus gallus
M145ARVLQRDTETL1Mus musculus
M145ARVIQSNTETL1Rattus norvegicus
M145VKSVHMSTKIL1Canis lupus familiaris
P42-DVAAPHRQPL1Homo sapiens
P42LEEEAGARRAL1Gallus gallus
P42-EDTTPNR-PV1Mus musculus
P42-EDTTHNR-PV1Rattus norvegicus
P42-DDATSNSLPL1Canis lupus familiaris
Q139ESSEEQARAVQ1Homo sapiens
Q139DSEKQNVESLC1Gallus gallus
Q139DNKKDKARVLQ1Mus musculus
Q139DNKKDKARVIQ1Rattus norvegicus
Q139EGDKENVKSVH1Canis lupus familiaris
Q152TKVLIQFLQKK1Homo sapiens
Q152TKHLAATIRQM1Gallus gallus
Q152TETLIHIFNQE1Mus musculus
Q152TETLVHIFKQE1Rattus norvegicus
Q152TKILVQMLKSK1Canis lupus familiaris
Q203FKEFLQSSLRA1Homo sapiens
Q203FTSFMEKTVRA1Gallus gallus
Q203LEEFLKVTLRS1Mus musculus
Q203LEEFLKVTMRS1Rattus norvegicus
Q203LEDFLQFSLRA1Canis lupus familiaris
Q56ERIDKQIRYIL1Homo sapiens
Q56EPLARVLR---1Gallus gallus
Q56SQVGGLITHVL1Mus musculus
Q56SQVGGLITYVL1Rattus norvegicus
Q56NKVEELIKYIL1Canis lupus familiaris
R141SEEQARAVQMS1Homo sapiens
R141EKQNVESLCYS1Gallus gallus
R141KKDKARVLQRD1Mus musculus
R141KKDKARVIQSN1Rattus norvegicus
R141DKENVKSVHMS1Canis lupus familiaris
R207LQSSLRALRQM1Homo sapiens
R207MEKTVRAVRYL1Gallus gallus
R207LKVTLRSTRQT1Mus musculus
R207LKVTMRSTRQT1Rattus norvegicus
R207LQFSLRAVRIM1Canis lupus familiaris
R210SLRALRQM---1Homo sapiens
R210TVRAVRYLKKT1Gallus gallus
R210TLRSTRQT---1Mus musculus
R210TMRSTRQT---1Rattus norvegicus
R210SLRAVRIM---1Canis lupus familiaris
R44VAAPHRQPLTS1Homo sapiens
R44EEAGARRALLD1Gallus gallus
R44DTTPNR-PVYT1Mus musculus
R44DTTHNR-PVYT1Rattus norvegicus
R44DATSNSLPLTS1Canis lupus familiaris
R52VYTTSQVGGLI2Mus musculus, Rattus norvegicus
R52LTSSERIDKQI1Homo sapiens
R52LLDCEPLARVL1Gallus gallus
R52LTSANKVEELI1Canis lupus familiaris
R58IDKQIRYILDG1Homo sapiens
R58LARVLR---DR1Gallus gallus
R58VGGLITHVLWE1Mus musculus
R58VGGLITYVLRE1Rattus norvegicus
R58VEELIKYILGK1Canis lupus familiaris
S135NRF-ESSEEQA1Homo sapiens
S135ETF-DSEKQNV1Gallus gallus
S135NNLKDNKKDKA1Mus musculus
S135NNLQDNKKDKA1Rattus norvegicus
S135NNY-EGDKENV1Canis lupus familiaris
S136RF-ESSEEQAR1Homo sapiens
S136TF-DSEKQNVE1Gallus gallus
S136NLKDNKKDKAR1Mus musculus
S136NLQDNKKDKAR1Rattus norvegicus
S136NY-EGDKENVK1Canis lupus familiaris
S146RAVQMSTKVLI1Homo sapiens
S146ESLCYSTKHLA1Gallus gallus
S146RVLQRDTETLI1Mus musculus
S146RVIQSNTETLV1Rattus norvegicus
S146KSVHMSTKILV1Canis lupus familiaris
V149QMSTKVLIQFL1Homo sapiens
V149CYSTKHLAATI1Gallus gallus
V149QRDTETLIHIF1Mus musculus
V149QSNTETLVHIF1Rattus norvegicus
V149HMSTKILVQML1Canis lupus familiaris
Y59DKQIRYILDGI1Homo sapiens
Y59ARVLR---DRA1Gallus gallus
Y59GGLITHVLWEI1Mus musculus
Y59GGLITYVLREI1Rattus norvegicus
Y59EELIKYILGKI1Canis lupus familiaris


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