Gene Report

Gene: IGF1R     Link to MethyView
Summary
Gene symbol IGF1R
Alias CD221, IGF1R, IGFIR, JTK13, MGC142170, MGC142172, MGC18216
Cytogenetic Location 15q25-qter
Type KNOWN
Property protein_coding
Description Insulin-like growth factor 1 receptor (EC 2.7.10.1) (Insulin-like growth factor I receptor) (IGF-I receptor) (CD221 antigen) [Contains: Insulin-like growth factor 1 receptor alpha chain; Insulin-like growth factor 1 receptor beta chain]
External Links
   Ensembl ENSG00000140443
   OMIM 147370
   mRNA NM_000875.2
   SwissProt P08069
 
Diseases(Cancers)
Cancer Name Lung: Non-small cell carcinoma
Description From COSMIC:
 
Cancer Name Kidney: Clear cell renal cell carcinoma
Description From COSMIC:
 
Cancer Name Kidney: Chromophobe renal cell carcinoma
Description From COSMIC:
 
 
Genomic Regions, Transcripts and Proteins
Gene Structure <0...125>, <58012...58557>, <241775...242087>, <247207...247355>, <249927...250071>, <259135...259349>, <261765...261891>, <263494...263732>, <266414...266581>, <267122...267326>, <272598...272881>, <274326...274462>, <274975...275134>, <280008...280110>, <280685...280755>, <285274...285503>, <285766...285876>, <289651...289810>, <293373...293502>, <299024...299158>, <307511...308732>
Ensembl Transcript ENST00000268035
Ensembl Protein ENSP00000268035
Gene Ontology GO:0007420 IEA Generated via Q15699
GO:0009887 IEA Generated via P52945
GO:0030238 IEA Generated via Q05066
GO:0016020 IEA Generated via Q96R67
GO:0005887 IC Generated via P56589
GO:0051262 IDA Generated via Q08188
GO:0048009 IDA Generated via P08069
GO:0046777 IDA Generated via Q13177
GO:0008286 TAS Generated via Q92572
GO:0004872 IEA Generated via Q96R67
GO:0000166 IEA Generated via Q9Y2A5
GO:0008284 TAS Generated via P28799
GO:0007165 TAS Generated via Q96R67
GO:0006916 TAS Generated via P01375
GO:0005524 IEA Generated via Q59F24
GO:0000074 TAS Generated via P01135
GO:0005520 IDA Generated via P09565
GO:0043560 IPI Generated via P08069
GO:0005515 IEA Generated via P54259
GO:0005010 IDA Generated via P08069
GO:0043548 IPI Generated via P06239
GO:0005006 IEA Generated via P08069
GO:0016740 IEA Generated via Q86UN3
 
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DNA methylation and CGIs
Gene MethyCancer Type Candidate cancer gene with experimental methylation data
Link to MethyView
 
Mutations
ID 6598540
Nucleotide IVS1-20600A>G
Type known SNP
Source CGAP
 
ID 2871866
Nucleotide IVS1-28903T>C
Type known SNP
Source CGAP
 
ID 2715442
Nucleotide IVS2-21992A>G
Type known SNP
Source CGAP
 
ID 2684793
Nucleotide IVS18-450A>G
Type known SNP
Source CGAP
 
ID 3743261
Nucleotide IVS5+481C>T
Type known SNP
Source CGAP
 
ID 3743260
Nucleotide IVS5+442G>A
Type known SNP
Source CGAP
 
ID 3743259
Nucleotide IVS5+311A>G
Type known SNP
Source CGAP
 
ID 9282725
Nucleotide IVS5+203A>G
Type known SNP
Source CGAP
 
ID 9282724
Nucleotide IVS7-16C>T
Type known SNP
Source CGAP
 
ID 2228531
Nucleotide Ex8+97G>A
Type known SNP
Source CGAP
 
ID 9282723
Nucleotide Ex8+103C>T
Type known SNP
Source CGAP
 
ID 9282722
Nucleotide IVS7-24T>C
Type known SNP
Source CGAP
 
ID 9282721
Nucleotide IVS7-119T>G
Type known SNP
Source CGAP
 
ID 9282720
Nucleotide IVS7-132A>G
Type known SNP
Source CGAP
 
ID 2175795
Nucleotide IVS2+61518A>G
Type known SNP
Source CGAP
 
ID 9282719
Nucleotide IVS2+61610G>A
Type known SNP
Source CGAP
 
ID 9282717
Nucleotide IVS2+61252->A
Type known SNP
Source CGAP
 
ID 9282718
Nucleotide IVS2+61306T>G
Type known SNP
Source CGAP
 
ID 9282716
Nucleotide 3210bp 3' of STP C>T
Type known SNP
Source CGAP
 
ID 2002880
Nucleotide 3073bp 3' of STP G>A
Type known SNP
Source CGAP
 
ID 9282714
Nucleotide 3019bp 3' of STP ->T
Type known SNP
Source CGAP
 
ID 9282715
Nucleotide 3164bp 3' of STP C>T
Type known SNP
Source CGAP
 
ID 9282713
Nucleotide IVS2-89720C>A
Type known SNP
Source CGAP
 
ID 907807
Nucleotide IVS2-89631G>A
Type known SNP
Source CGAP
 
ID 2016347
Nucleotide 3128bp 3' of STP T>G
Type known SNP
Source CGAP
 
ID 9282712
Nucleotide IVS2-89529A>C
Type known SNP
Source CGAP
 
ID 2137680
Nucleotide IVS2+61405A>G
Type known SNP
Source CGAP
 
ID 907806
Nucleotide IVS2-89673G>A
Type known SNP
Source CGAP
 
ID 2272037
Nucleotide IVS7-20T>C
Type known SNP
Source CGAP
 
ID 3743258
Nucleotide IVS5+289G>A
Type known SNP
Source CGAP
 
ID 2229765
Nucleotide Ex16-58G>A
Type known SNP
Source CGAP
 
ID 4987179
Nucleotide IVS16+23C>T
Type known SNP
Source CGAP
 
ID 1319859
Nucleotide IVS1-20528G>A
Type known SNP
Source CGAP
 
Nucleotide IVS18-487T>A
Type known SNP
Source CGAP
 
Nucleotide IVS18-636T>C
Type known SNP
Source CGAP
 
ID 4966047
Nucleotide IVS18-481T>C
Type known SNP
Source CGAP
 
Nucleotide IVS1-28874T>A
Type known SNP
Source CGAP
 
Nucleotide IVS1-20514A>C
Type known SNP
Source CGAP
 
Nucleotide IVS1-20752A>G
Type known SNP
Source CGAP
 
ID 7168213
Nucleotide IVS1-20456T>G
Type known SNP
Source CGAP
 
Nucleotide c.3640C>T
Amino Acid p.Q1214*
Type mutation
Tissue kidney
Source CGP
 
Nucleotide c.3833_3835delCCT
Amino Acid p.S1278_F1279>F
Type mutation
Tissue kidney
Source CGP
 
Nucleotide c.4040C>T
Amino Acid p.A1347V
Type mutation
Tissue lung
Source CGP
 
Nucleotide c.4040C>T
Amino Acid p.A1347V
Type mutation
Tissue lung
Source CGP
 
Nucleotide c.313G>C
Amino Acid p.V105L
Type mutation
Tissue kidney
Source CGP
 
Pathway
KEGG VEGF signaling pathway Link to KEGG
 
BIOCARTA Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway Link to BIOCARTA
 
KEGG Axon guidance Link to KEGG
 
KEGG Calcium signaling pathway Link to KEGG
 
KEGG Gap junction Link to KEGG
 
KEGG Cytokine-cytokine receptor interaction Link to KEGG
 
BIOCARTA Link to BIOCARTA
 
KEGG Focal adhesion Link to KEGG
 
KEGG Apoptosis Link to KEGG
 
BIOCARTA Link to BIOCARTA
 
KEGG Hematopoietic cell lineage Link to KEGG
 
BIOCARTA Link to BIOCARTA
 
KEGG Dentatorubropallidoluysian atrophy (DRPLA) Link to KEGG
 
BIOCARTA Telomeres Link to BIOCARTA
 
KEGG Dorso-ventral axis formation Link to KEGG
 
KEGG GnRH signaling pathway Link to KEGG
 
KEGG Regulation of actin cytoskeleton Link to KEGG
 
KEGG Colorectal cancer Link to KEGG
 
KEGG Type II diabetes mellitus Link to KEGG
 
KEGG Long-term depression Link to KEGG
 
KEGG Epithelial cell signaling in Helicobacter pylori infection Link to KEGG
 
KEGG MAPK signaling pathway Link to KEGG
 
BIOCARTA The IGF-1 Receptor and Longevity Link to BIOCARTA
 
KEGG Adherens junction Link to KEGG
 
KEGG Insulin signaling pathway Link to KEGG
 
BIOCARTA Erk1/Erk2 Mapk Signaling pathway Link to BIOCARTA
 
BIOCARTA Multiple antiapoptotic pathways from IGF-1R signaling lead to BAD phosphorylation Link to BIOCARTA
 
BIOCARTA IGF-1 Signaling Pathway Link to BIOCARTA
 
BIOCARTA Regulation of BAD phosphorylation Link to BIOCARTA
 
BIOCARTA Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK) Link to BIOCARTA