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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
56
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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
View all (16 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IGF1R-related disorder Likely pathogenic rs1448143895, rs1131691583 RCV004528702
RCV000844968
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability Likely pathogenic; Pathogenic rs2151652750, rs1173681603 RCV001526562
RCV001255347
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly Likely pathogenic rs2151681264 RCV001526578
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acanthosis Nigricans Acanthosis Nigricans BEFREE 12452857
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly BEFREE 25329702, 25871641, 7704960
★☆☆☆☆
Found in Text Mining only
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 15750215
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 18337761, 25648584, 31042587
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 10205209, 12412161, 21635552, 21732141, 24026884, 24374738, 25110710, 26026165
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 18263593
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 19582762, 19679045, 20104520
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 16619240, 18535748, 21598249, 21732141, 25344917, 27213344, 28365890, 28418902, 28912847, 29421153, 29559623, 29928883, 30412601, 30868896
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 19190347, 28628857
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 31426421
★☆☆☆☆
Found in Text Mining only