|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for IGF2R |
 Gene summary |
| Basic gene Info. | Gene symbol | IGF2R |
| Gene name | insulin-like growth factor 2 receptor | |
| Synonyms | CD222|CIMPR|M6P-R|MPR1|MPRI | |
| Cytomap | UCSC genome browser: 6q26 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000876.2, | |
| Description | 300 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 date | 20141207 | |
| dbXrefs | MIM : 147280 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000197081 | ||
| HPRD : 00928 | ||
| Vega : OTTHUMG00000015945 | ||
| Protein | UniProt: P11717 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_IGF2R | |
| BioGPS: 3482 | ||
| Pathway | NCI Pathway Interaction Database: IGF2R | |
| KEGG: IGF2R | ||
| REACTOME: IGF2R | ||
| Pathway Commons: IGF2R | ||
| Context | iHOP: IGF2R | |
| ligand binding site mutation search in PubMed: IGF2R | ||
| UCL Cancer Institute: IGF2R | ||
| 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 |
| Top |
| Ligand binding site mutations for IGF2R |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | S1600 | S1600F | BRCA | 1 | E1544 | E1544G | UCEC | 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. |
| Top |
| 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. |
| LBS | AAchange of nsSNV | Relative stability change | E1544 | E1544G | -1.0575338 | S1600 | S1600F | -0.29368236 |
| (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 |
| Top |
| 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) |
| Top |
| Top |
| Phenotype information for IGF2R |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C2239176 | Carcinoma, Hepatocellular | 15 | Biomarker, GeneticVariation |
| umls:C0002395 | Alzheimer Disease | 3 | Biomarker, GeneticVariation |
| umls:C0235833 | Hernias, Diaphragmatic, Congenital | 2 | Biomarker |
| umls:C0024115 | Lung Diseases | 2 | Biomarker |
| umls:C0752347 | Lewy Body Disease | 1 | Biomarker |
| umls:C0030567 | Parkinson Disease | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| Top |
| 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 status | DrugBank ID | Name | Type | Drug structure |
| Approved|investigational | DB01277 | Mecasermin | Biotech |  |
| Experimental | DB02900 | Alpha-D-Mannose-6-Phosphate | Small molecule |  |
| Gene-centered ligand-gene interaction network |
 |
| Ligands binding to mutated ligand binding site of IGF2R go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (GLU,THR,LEU,CYS,GLY,GLY,GLU,LEU,VAL,ASP,THR,LEU,GLN,PHE,VAL,CYS,GLY,ASP,ARG,GLY,PHE,TYR,PHE,SER) | 2v5p | A | E1544 | III | Peptide ligand (GLU,THR,LEU,CYS,GLY,GLY,GLU,LEU,VAL,ASP,THR,LEU,GLN,PHE,VAL,CYS,GLY,ASP,ARG,GLY,PHE,TYR,PHE,SER) | 2v5p | B | E1544 | III | Peptide ligand (ARG,GLY,ILE,VAL,GLU,GLU,CYS,CYS,PHE,ARG,SER,CYS,ASP,LEU,ALA,LEU,LEU,GLU,THR,TYR,CYS,ALA,THR,PRO) | 2v5p | A | S1600 | III | Peptide ligand (ARG,GLY,ILE,VAL,GLU,GLU,CYS,CYS,PHE,ARG,SER,CYS,ASP,LEU,ALA,LEU,LEU,GLU,THR,TYR,CYS,ALA,THR,PRO) | 2v5p | B | S1600 |
| Top |
| Conservation information for LBS of IGF2R |
| Multiple alignments for P11717 in multiple species |
| LBS | AA sequence | # species | Species | A1577 | ISVGKANKRLR | 1 | Homo sapiens | A1577 | ISVGKASKRLT | 1 | Bos taurus | A1577 | ISVGKASKRLS | 1 | Mus musculus | D1594 | QLVYKDGSPCP | 1 | Homo sapiens | D1594 | QLVYEGGSPCP | 1 | Bos taurus | D1594 | QLVYENGSPCP | 1 | Mus musculus | E1544 | TAAYSEKGLVY | 2 | Homo sapiens, Bos taurus | E1544 | NASYSEKGLVF | 1 | Mus musculus | F1567 | GVGACFGQTRI | 3 | Homo sapiens, Bos taurus, Mus musculus | G1546 | AYSEKGLVYMS | 1 | Homo sapiens | G1546 | AYSEKGLVYLS | 1 | Bos taurus | G1546 | SYSEKGLVFMS | 1 | Mus musculus | G1554 | YMSICGENENC | 1 | Homo sapiens | G1554 | YLSVCGDNENC | 1 | Bos taurus | G1554 | FMSICEENENC | 1 | Mus musculus | G1568 | VGACFGQTRIS | 3 | Homo sapiens, Bos taurus, Mus musculus | H1641 | LFFSWHTPLAC | 3 | Homo sapiens, Bos taurus, Mus musculus | I1572 | FGQTRISVGKA | 3 | Homo sapiens, Bos taurus, Mus musculus | I1627 | NRPMLISLDKQ | 2 | Homo sapiens, Mus musculus | I1627 | NRPMLISLDKR | 1 | Bos taurus | K1579 | VGKANKRLRYV | 1 | Homo sapiens | K1579 | VGKASKRLTYV | 1 | Bos taurus | K1579 | VGKASKRLSYK | 1 | Mus musculus | K1593 | LQLVYKDGSPC | 1 | Homo sapiens | K1593 | LQLVYEGGSPC | 1 | Bos taurus | K1593 | LQLVYENGSPC | 1 | Mus musculus | K1607 | SGLSYKSVISF | 1 | Homo sapiens | K1607 | TGLSYKSVISF | 1 | Bos taurus | K1607 | SDLRYKSVISF | 1 | Mus musculus | K1631 | LISLDKQTCTL | 2 | Homo sapiens, Mus musculus | K1631 | LISLDKRTCTL | 1 | Bos taurus | L1547 | YSEKGLVYMSI | 1 | Homo sapiens | L1547 | YSEKGLVYLSV | 1 | Bos taurus | L1547 | YSEKGLVFMSI | 1 | Mus musculus | L1629 | PMLISLDKQTC | 2 | Homo sapiens, Mus musculus | L1629 | PMLISLDKRTC | 1 | Bos taurus | L1636 | KQTCTLFFSWH | 2 | Homo sapiens, Mus musculus | L1636 | KRTCTLFFSWH | 1 | Bos taurus | N1578 | SVGKANKRLRY | 1 | Homo sapiens | N1578 | SVGKASKRLTY | 1 | Bos taurus | N1578 | SVGKASKRLSY | 1 | Mus musculus | P1597 | YKDGSPCPSKS | 1 | Homo sapiens | P1597 | YEGGSPCPSKT | 1 | Bos taurus | P1597 | YENGSPCPSLS | 1 | Mus musculus | P1599 | DGSPCPSKSGL | 1 | Homo sapiens | P1599 | GGSPCPSKTGL | 1 | Bos taurus | P1599 | NGSPCPSLSDL | 1 | Mus musculus | P1643 | FSWHTPLACEQ | 3 | Homo sapiens, Bos taurus, Mus musculus | Q1569 | GACFGQTRISV | 3 | Homo sapiens, Bos taurus, Mus musculus | S1543 | FTAAYSEKGLV | 2 | Homo sapiens, Bos taurus | S1543 | INASYSEKGLV | 1 | Mus musculus | S1600 | GSPCPSKSGLS | 1 | Homo sapiens | S1600 | GSPCPSKTGLS | 1 | Bos taurus | S1600 | GSPCPSLSDLR | 1 | Mus musculus | S1605 | SKSGLSYKSVI | 1 | Homo sapiens | S1605 | SKTGLSYKSVI | 1 | Bos taurus | S1605 | SLSDLRYKSVI | 1 | Mus musculus | S1628 | RPMLISLDKQT | 2 | Homo sapiens, Mus musculus | S1628 | RPMLISLDKRT | 1 | Bos taurus | S1639 | CTLFFSWHTPL | 3 | Homo sapiens, Bos taurus, Mus musculus | T1570 | ACFGQTRISVG | 3 | Homo sapiens, Bos taurus, Mus musculus | T1642 | FFSWHTPLACE | 3 | Homo sapiens, Bos taurus, Mus musculus | W1640 | TLFFSWHTPLA | 3 | Homo sapiens, Bos taurus, Mus musculus | Y1542 | GFTAAYSEKGL | 2 | Homo sapiens, Bos taurus | Y1542 | GINASYSEKGL | 1 | Mus musculus |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |