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 IGF2R
Gene summary
Basic gene Info.Gene symbolIGF2R
Gene nameinsulin-like growth factor 2 receptor
CytomapUCSC genome browser: 6q26
Type of geneprotein-coding
Description300 kDa mannose 6-phosphate receptorCI Man-6-P receptorCI-MPRIGF-II receptorM6P/IGF2 receptorM6P/IGF2RM6PRMPR 300cation-independent mannose-6 phosphate receptorcation-independent mannose-6-phosphate receptorinsulin-like growth factor II receptor
Modification date20141207
dbXrefs MIM : 147280
Ensembl : ENSG00000197081
HPRD : 00928
Vega : OTTHUMG00000015945
ProteinUniProt: P11717
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_IGF2R
BioGPS: 3482
PathwayNCI Pathway Interaction Database: IGF2R
Pathway Commons: IGF2R
ContextiHOP: IGF2R
ligand binding site mutation search in PubMed: IGF2R
UCL Cancer Institute: IGF2R
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for IGF2R

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for IGF2R
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
(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 IGF2R from PDB

Differential gene expression and gene-gene network for IGF2R
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 IGF2R and the right PPI network was created from samples without mutations in the LBS of IGF2R. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for IGF2R
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C2239176Carcinoma, Hepatocellular15Biomarker, GeneticVariation
umls:C0002395Alzheimer Disease3Biomarker, GeneticVariation
umls:C0235833Hernias, Diaphragmatic, Congenital2Biomarker
umls:C0024115Lung Diseases2Biomarker
umls:C0752347Lewy Body Disease1Biomarker
umls:C0030567Parkinson Disease1Biomarker

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

Pharmacological information for IGF2R
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
ExperimentalDB02900Alpha-D-Mannose-6-PhosphateSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of IGF2R go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of IGF2R
Multiple alignments for P11717 in multiple species
LBSAA sequence# speciesSpecies
A1577ISVGKANKRLR1Homo sapiens
A1577ISVGKASKRLT1Bos taurus
A1577ISVGKASKRLS1Mus musculus
D1594QLVYKDGSPCP1Homo sapiens
D1594QLVYEGGSPCP1Bos taurus
D1594QLVYENGSPCP1Mus musculus
E1544TAAYSEKGLVY2Homo sapiens, Bos taurus
E1544NASYSEKGLVF1Mus musculus
F1567GVGACFGQTRI3Homo sapiens, Bos taurus, Mus musculus
G1546AYSEKGLVYMS1Homo sapiens
G1546AYSEKGLVYLS1Bos taurus
G1546SYSEKGLVFMS1Mus musculus
G1554YMSICGENENC1Homo sapiens
G1554YLSVCGDNENC1Bos taurus
G1554FMSICEENENC1Mus musculus
G1568VGACFGQTRIS3Homo sapiens, Bos taurus, Mus musculus
H1641LFFSWHTPLAC3Homo sapiens, Bos taurus, Mus musculus
I1572FGQTRISVGKA3Homo sapiens, Bos taurus, Mus musculus
I1627NRPMLISLDKQ2Homo sapiens, Mus musculus
I1627NRPMLISLDKR1Bos taurus
K1579VGKANKRLRYV1Homo sapiens
K1579VGKASKRLTYV1Bos taurus
K1579VGKASKRLSYK1Mus musculus
K1593LQLVYKDGSPC1Homo sapiens
K1593LQLVYEGGSPC1Bos taurus
K1593LQLVYENGSPC1Mus musculus
K1607SGLSYKSVISF1Homo sapiens
K1607TGLSYKSVISF1Bos taurus
K1607SDLRYKSVISF1Mus musculus
K1631LISLDKQTCTL2Homo sapiens, Mus musculus
K1631LISLDKRTCTL1Bos taurus
L1547YSEKGLVYMSI1Homo sapiens
L1547YSEKGLVYLSV1Bos taurus
L1547YSEKGLVFMSI1Mus musculus
L1629PMLISLDKQTC2Homo sapiens, Mus musculus
L1629PMLISLDKRTC1Bos taurus
L1636KQTCTLFFSWH2Homo sapiens, Mus musculus
L1636KRTCTLFFSWH1Bos taurus
N1578SVGKANKRLRY1Homo sapiens
N1578SVGKASKRLTY1Bos taurus
N1578SVGKASKRLSY1Mus musculus
P1597YKDGSPCPSKS1Homo sapiens
P1597YEGGSPCPSKT1Bos taurus
P1597YENGSPCPSLS1Mus musculus
P1599DGSPCPSKSGL1Homo sapiens
P1599GGSPCPSKTGL1Bos taurus
P1599NGSPCPSLSDL1Mus musculus
P1643FSWHTPLACEQ3Homo sapiens, Bos taurus, Mus musculus
Q1569GACFGQTRISV3Homo sapiens, Bos taurus, Mus musculus
S1543FTAAYSEKGLV2Homo sapiens, Bos taurus
S1543INASYSEKGLV1Mus musculus
S1600GSPCPSKSGLS1Homo sapiens
S1600GSPCPSKTGLS1Bos taurus
S1600GSPCPSLSDLR1Mus musculus
S1605SKSGLSYKSVI1Homo sapiens
S1605SKTGLSYKSVI1Bos taurus
S1605SLSDLRYKSVI1Mus musculus
S1628RPMLISLDKQT2Homo sapiens, Mus musculus
S1628RPMLISLDKRT1Bos taurus
S1639CTLFFSWHTPL3Homo sapiens, Bos taurus, Mus musculus
T1570ACFGQTRISVG3Homo sapiens, Bos taurus, Mus musculus
T1642FFSWHTPLACE3Homo sapiens, Bos taurus, Mus musculus
W1640TLFFSWHTPLA3Homo sapiens, Bos taurus, Mus musculus
Y1542GFTAAYSEKGL2Homo sapiens, Bos taurus
Y1542GINASYSEKGL1Mus musculus

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