Gene Gene information from NCBI Gene database.
Entrez ID 3480
Gene name Insulin like growth factor 1 receptor
Gene symbol IGF1R
Synonyms (NCBI Gene)
CD221IGFIRIGFRJTK13
Chromosome 15
Chromosome location 15q26.3
Summary This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It
SNPs SNP information provided by dbSNP.
29
SNP ID Visualize variation Clinical significance Consequence
rs33958176 G>A Protective, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs34364279 C>T Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
rs45495500 C>T Conflicting-interpretations-of-pathogenicity Intron variant
rs45598332 T>C,G Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
rs398028512 AAA>-,A,AA,AAAA,AAAAA,AAAAAAAA,AAAAAAAAAAAAA Conflicting-interpretations-of-pathogenicity Genic downstream transcript variant, 3 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
3110
miRTarBase ID miRNA Experiments Reference
MIRT004460 hsa-miR-133b Luciferase reporter assay 19695767
MIRT005364 hsa-miR-7-5p FlowqRT-PCRWestern blot 20819078
MIRT005364 hsa-miR-7-5p FlowqRT-PCRWestern blot 20819078
MIRT005364 hsa-miR-7-5p FlowqRT-PCRWestern blot 20819078
MIRT005364 hsa-miR-7-5p FlowqRT-PCRWestern blot 20819078
Transcription factors Transcription factors information provided by TRRUST V2 database.
11
Transcription factor Regulation Reference
AR Activation 15033751;17202144
ATM Unknown 11172010
BRCA1 Unknown 11001824;19223505
KLF6 Unknown 15131018
NKX3-1 Repression 22179513
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
78
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004713 Function Protein tyrosine kinase activity IDA 7679099, 11162456
GO:0004713 Function Protein tyrosine kinase activity IEA
GO:0004713 Function Protein tyrosine kinase activity IMP 11884589
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
147370 5465 ENSG00000140443
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P08069
Protein name Insulin-like growth factor 1 receptor (EC 2.7.10.1) (Insulin-like growth factor I receptor) (IGF-I receptor) (CD antigen CD221) [Cleaved into: Insulin-like growth factor 1 receptor alpha chain; Insulin-like growth factor 1 receptor beta chain]
Protein function Receptor tyrosine kinase which mediates actions of insulin-like growth factor 1 (IGF1). Binds IGF1 with high affinity and IGF2 and insulin (INS) with a lower affinity. The activated IGF1R is involved in cell growth and survival control. IGF1R is
PDB 1IGR , 1JQH , 1K3A , 1M7N , 1P4O , 2OJ9 , 2ZM3 , 3D94 , 3F5P , 3I81 , 3LVP , 3LW0 , 3NW5 , 3NW6 , 3NW7 , 3O23 , 3QQU , 4D2R , 4XSS , 5FXQ , 5FXR , 5FXS , 5HZN , 5U8Q , 5U8R , 6JK8 , 6VWG , 6VWH , 6VWI , 6VWJ , 7PH8 , 7S0Q , 7S8V , 7U23 , 7V3P , 7XGD , 7XLC , 7YRR , 8PYI , 8PYJ , 8PYK , 8PYL , 8PYM , 8PYN , 8TAN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01030 Recep_L_domain 51 161 Receptor L domain Repeat
PF00757 Furin-like 175 333 Furin-like cysteine rich region Domain
PF01030 Recep_L_domain 352 466 Receptor L domain Repeat
PF07714 PK_Tyr_Ser-Thr 999 1266 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity TISSUE SPECIFICITY: Found as a hybrid receptor with INSR in muscle, heart, kidney, adipose tissue, skeletal muscle, hepatoma, fibroblasts, spleen and placenta (at protein level). Expressed in a variety of tissues. Overexpressed in tumors, including melano
Sequence
MKSGSGGGSPTSLWGLLFLSAALSLWPTSGEICGPGIDIRNDYQQLKRLENCTVIEGYLH
ILLISKAEDYRSYRFPKLTVITEYLLLFRVAGLESLGDLFPNLTVIRGWKLFYNYALVIF
EMTNLKDIGLYNLRNITRGAIRIEKNADLCYLSTVDWSLIL
DAVSNNYIVGNKPPKECGD
LCPGTMEEKPMCEKTTINNEYNYRCWTTNRCQKMCPSTCGKRACTENNECCHPECLGSCS
APDNDTACVACRHYYYAGVCVPACPPNTYRFEGWRCVDRDFCANILSAESSDSEGFVIHD
GECMQECPSGFIRNGSQSMYCIPCEGPCPKVCE
EEKKTKTIDSVTSAQMLQGCTIFKGNL
LINIRRGNNIASELENFMGLIEVVTGYVKIRHSHALVSLSFLKNLRLILGEEQLEGNYSF
YVLDNQNLQQLWDWDHRNLTIKAGKMYFAFNPKLCVSEIYRMEEVT
GTKGRQSKGDINTR
NNGERASCESDVLHFTSTTTSKNRIIITWHRYRPPDYRDLISFTVYYKEAPFKNVTEYDG
QDACGSNSWNMVDVDLPPNKDVEPGILLHGLKPWTQYAVYVKAVTLTMVENDHIRGAKSE
ILYIRTNASVPSIPLDVLSASNSSSQLIVKWNPPSLPNGNLSYYIVRWQRQPQDGYLYRH
NYCSKDKIPIRKYADGTIDIEEVTENPKTEVCGGEKGPCCACPKTEAEKQAEKEEAEYRK
VFENFLHNSIFVPRPERKRRDVMQVANTTMSSRSRNTTAADTYNITDPEELETEYPFFES
RVDNKERTVISNLRPFTLYRIDIHSCNHEAEKLGCSASNFVFARTMPAEGADDIPGPVTW
EPRPENSIFLKWPEPENPNGLILMYEIKYGSQVEDQRECVSRQEYRKYGGAKLNRLNPGN
YTARIQATSLSGNGSWTDPVFFYVQAKTGYENFIHLIIALPVAVLLIVGGLVIMLYVFHR
KRNNSRLGNGVLYASVNPEYFSAADVYVPDEWEVAREKITMSRELGQGSFGMVYEGVAKG
VVKDEPETRVAIKTVNEAASMRERIEFLNEASVMKEFNCHHVVRLLGVVSQGQPTLVIME
LMTRGDLKSYLRSLRPEMENNPVLAPPSLSKMIQMAGEIADGMAYLNANKFVHRDLAARN
CMVAEDFTVKIGDFGMTRDIYETDYYRKGGKGLLPVRWMSPESLKDGVFTTYSDVWSFGV
VLWEIATLAEQPYQGLSNEQVLRFVMEGGLLDKPDNCPDMLFELMRMCWQYNPKMRPSFL
EIISSI
KEEMEPGFREVSFYYSEENKLPEPEELDLEPENMESVPLDPSASSSSLPLPDRH
SGHKAENGPGPGVLVLRASFDERQPYAHMNGGRKNERALPLPQSSTC
Sequence length 1367
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
603
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Growth delay due to insulin-like growth factor I resistance Likely pathogenic; Pathogenic rs2151652750, rs2151681264, rs2151690905, rs2506069523, rs2506058863, rs2505321709, rs2014223788, rs2013914972, rs2151726658, rs2506034722, rs1322503729, rs1555434208, rs1596214066, rs1596214576, rs774794966
View all (6 more)
RCV002226551
RCV003154186
RCV001548770
RCV002283685
RCV004784140
RCV003447677
RCV003885346
RCV003989440
RCV004549027
RCV004560342
RCV004800430
RCV000516173
RCV000852351
RCV000852352
RCV000852353
RCV000852354
RCV000852356
RCV000852357
RCV000852358
RCV000852355
RCV001262461
IGF1R-related disorder Likely pathogenic rs1448143895, rs1131691583 RCV004528702
RCV000844968
Intellectual disability Likely pathogenic; Pathogenic rs2151652750, rs1173681603 RCV001526562
RCV001255347
Microcephaly Likely pathogenic rs2151681264 RCV001526578
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign; Likely benign rs36108138 RCV005893414
Clear cell carcinoma of kidney Benign; Likely benign rs36108138 RCV005893415
Craniosynostosis syndrome Uncertain significance rs1596214904 RCV000984628
Familial cancer of breast Benign rs7168369 RCV005912024
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acne Vulgaris Associate 20927124
Adenocarcinoma Associate 1325950, 21728395, 22159423, 25944691, 27088794
Adenocarcinoma of Lung Associate 23990442, 27213344, 28302721, 29054976, 29928883, 35974000
Adenoma Stimulate 21728395, 35931997
Adenoma Associate 24194259, 25017244
Adenoma Villous Stimulate 21728395
Adenomatous Polyps Stimulate 21728395, 23801064
Adrenocortical Carcinoma Associate 25110710, 30838516, 40038716
Alzheimer Disease Inhibit 24468113, 30056117
Alzheimer Disease Associate 36604493