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IGF1R Gene(Protein Coding)

Insulin Like Growth Factor 1 Receptor

GCID:
GC15P098648
GIFtS:
62
Genes Participants
UDN Logo

Aliases for IGF1R Gene

Aliases for IGF1R Gene

  • Insulin Like Growth Factor 1 Receptor 2 3 5
  • Insulin-Like Growth Factor 1 Receptor 2 3
  • IGF-I Receptor 3 4
  • Insulin-Like Growth Factor I Receptor 4
  • Soluble IGF1R Variant 1 3
  • Soluble IGF1R Variant 2 3
  • CD221 Antigen 4
  • EC 2.7.10.1 4
  • CD221 3
  • IGFIR 3
  • JTK13 3
  • IGFR 3

External Ids for IGF1R Gene

Previous GeneCards Identifiers for IGF1R Gene

  • GC15P095878
  • GC15P093033
  • GC15P096785
  • GC15P096928
  • GC15P097010
  • GC15P099192
  • GC15P075320

Summaries for IGF1R Gene

Entrez Gene Summary for IGF1R Gene

  • 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 is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]

CIViC summary for IGF1R Gene

GeneCards Summary for IGF1R Gene

IGF1R (Insulin Like Growth Factor 1 Receptor) is a Protein Coding gene. Diseases associated with IGF1R include Insulin-Like Growth Factor I and Ring Chromosome 15. Among its related pathways are ERK Signaling and mTOR Pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein kinase activity. An important paralog of this gene is INSR.

UniProtKB/Swiss-Prot for IGF1R Gene

  • 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 crucial for tumor transformation and survival of malignant cell. Ligand binding activates the receptor kinase, leading to receptor autophosphorylation, and tyrosines phosphorylation of multiple substrates, that function as signaling adapter proteins including, the insulin-receptor substrates (IRS1/2), Shc and 14-3-3 proteins. Phosphorylation of IRSs proteins lead to the activation of two main signaling pathways: the PI3K-AKT/PKB pathway and the Ras-MAPK pathway. The result of activating the MAPK pathway is increased cellular proliferation, whereas activating the PI3K pathway inhibits apoptosis and stimulates protein synthesis. Phosphorylated IRS1 can activate the 85 kDa regulatory subunit of PI3K (PIK3R1), leading to activation of several downstream substrates, including protein AKT/PKB. AKT phosphorylation, in turn, enhances protein synthesis through mTOR activation and triggers the antiapoptotic effects of IGFIR through phosphorylation and inactivation of BAD. In parallel to PI3K-driven signaling, recruitment of Grb2/SOS by phosphorylated IRS1 or Shc leads to recruitment of Ras and activation of the ras-MAPK pathway. In addition to these two main signaling pathways IGF1R signals also through the Janus kinase/signal transducer and activator of transcription pathway (JAK/STAT). Phosphorylation of JAK proteins can lead to phosphorylation/activation of signal transducers and activators of transcription (STAT) proteins. In particular activation of STAT3, may be essential for the transforming activity of IGF1R. The JAK/STAT pathway activates gene transcription and may be responsible for the transforming activity. JNK kinases can also be activated by the IGF1R. IGF1 exerts inhibiting activities on JNK activation via phosphorylation and inhibition of MAP3K5/ASK1, which is able to directly associate with the IGF1R.

  • When present in a hybrid receptor with INSR, binds IGF1. PubMed:12138094 shows that hybrid receptors composed of IGF1R and INSR isoform Long are activated with a high affinity by IGF1, with low affinity by IGF2 and not significantly activated by insulin, and that hybrid receptors composed of IGF1R and INSR isoform Short are activated by IGF1, IGF2 and insulin. In contrast, PubMed:16831875 shows that hybrid receptors composed of IGF1R and INSR isoform Long and hybrid receptors composed of IGF1R and INSR isoform Short have similar binding characteristics, both bind IGF1 and have a low affinity for insulin.

Tocris Summary for IGF1R Gene

  • Insulin receptors (IRs) and insulin-like growth factor receptors (IGFRs) are formed from two subunits, each of which is comprised of an extracellular alpha-subunit and a transmembrane beta-subunit with intracellular tyrosine kinase activity. IR homodimers are activated by insulin.

Gene Wiki entry for IGF1R Gene

Additional gene information for IGF1R Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IGF1R Gene

Genomics for IGF1R Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for IGF1R Gene

Promoters and enhancers for IGF1R Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH15J098646 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 657 +1.9 1923 7.7 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF766 ZNF143 IGF1R IRAIN GC15M099371
GH15J098922 Promoter/Enhancer 1.2 EPDnew ENCODE dbSUPER 650.1 +275.5 275504 2.5 NFIC ZNF316 MAFF MAFG EMSY MAFK NR2F2 IGF1R PIR39794 GC15P098909
GH15J098850 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 15.3 +206.1 206074 9.1 PKNOX1 FOXA2 ARNT ARID4B NEUROD1 SIN3A ZNF2 YY1 ZNF213 ZNF143 IGF1R TTC23 ENSG00000259921 ENSG00000259621 MIR4714
GH15J098742 Enhancer 1.1 Ensembl ENCODE dbSUPER 18.5 +96.7 96736 5 NCOA3 CTCF PKNOX1 PAX8 E2F1 CTBP1 GATA3 ZNF366 ZBTB48 POLR2A IGF1R MIR4714 GC15M099382
GH15J098864 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.7 +218.6 218575 4.4 PKNOX1 CLOCK ARID4B NEUROD1 SIN3A DMAP1 FOS KLF13 SP3 SP5 IGF1R ENSG00000259921 TTC23 ENSG00000259621 MIR4714
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IGF1R on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IGF1R gene promoter:
  • STAT3
  • TBP
  • MEF-2A
  • aMEF-2
  • STAT1
  • AP-1

Genomic Locations for IGF1R Gene

Genomic Locations for IGF1R Gene
chr15:98,648,539-98,964,530
(GRCh38/hg38)
Size:
315,992 bases
Orientation:
Plus strand
chr15:99,192,200-99,507,759
(GRCh37/hg19)
Size:
315,560 bases
Orientation:
Plus strand

Genomic View for IGF1R Gene

Genes around IGF1R on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IGF1R Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IGF1R Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for IGF1R Gene

Proteins for IGF1R Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for IGF1R Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08069-IGF1R_HUMAN
    Recommended name:
    Insulin-like growth factor 1 receptor
    Protein Accession:
    P08069
    Secondary Accessions:
    • B1B5Y2
    • Q14CV2
    • Q9UCC0

    Protein attributes for IGF1R Gene

    Size:
    1367 amino acids
    Molecular mass:
    154793 Da
    Quaternary structure:
    • Tetramer of 2 alpha and 2 beta chains linked by disulfide bonds. The alpha chains contribute to the formation of the ligand-binding domain, while the beta chain carries the kinase domain. Interacts with PIK3R1 and with the PTB/PID domains of IRS1 and SHC1 in vitro when autophosphorylated on tyrosine residues. Forms a hybrid receptor with INSR, the hybrid is a tetramer consisting of 1 alpha chain and 1 beta chain of INSR and 1 alpha chain and 1 beta chain of IGF1R. Interacts with ARRB1 and ARRB2. Interacts with GRB10. Interacts with RACK1. Interacts with SOCS1, SOCS2 and SOCS3. Interacts with 14-3-3 proteins. Interacts with NMD2. Interacts with MAP3K5. Interacts with STAT3. Found in a ternary complex with IGF1 and ITGAV:ITGB3 or ITGA6:ITGB4 (PubMed:19578119, PubMed:22351760). Interacts (nascent precursor form) with ZFAND2B (PubMed:26692333).
    SequenceCaution:
    • Sequence=BAG11657.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for IGF1R Gene

neXtProt entry for IGF1R Gene

Protein Expression for IGF1R Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for IGF1R Gene

  • Autophosphorylated on tyrosine residues in response to ligand binding. Autophosphorylation occurs in trans, i.e. one subunit of the dimeric receptor phosphorylates tyrosine residues on the other subunit. Autophosphorylation occurs in a sequential manner; Tyr-1165 is predominantly phosphorylated first, followed by phosphorylation of Tyr-1161 and Tyr-1166. While every single phosphorylation increases kinase activity, all three tyrosine residues in the kinase activation loop (Tyr-1165, Tyr-1161 and Tyr-1166) have to be phosphorylated for optimal activity. Can be autophosphorylated at additional tyrosine residues (in vitro). Autophosphorylated is followed by phosphorylation of juxtamembrane tyrosines and C-terminal serines. Phosphorylation of Tyr-980 is required for IRS1- and SHC1-binding. Phosphorylation of Ser-1278 by GSK-3beta restrains kinase activity and promotes cell surface expression, it requires a priming phosphorylation at Ser-1282. Dephosphorylated by PTPN1 (By similarity).
  • Polyubiquitinated at Lys-1168 and Lys-1171 through both Lys-48 and Lys-29 linkages, promoting receptor endocytosis and subsequent degradation by the proteasome. Ubiquitination is facilitated by pre-existing phosphorylation.
  • Sumoylated with SUMO1.
  • Controlled by regulated intramembrane proteolysis (RIP). Undergoes metalloprotease-dependent constitutive ectodomain shedding to produce a membrane-anchored 52 kDa C-Terminal fragment which is further processed by presenilin gamma-secretase to yield an intracellular 50 kDa fragment.
  • Glycosylation at Asn913, Asn900, isoforms=764, Asn756, Asn747, Asn640, Asn622, isoforms=607, Asn534, isoforms=438, isoforms=417, Asn314, Asn244, Asn135, isoforms=102, and Asn51
  • Ubiquitination at isoforms=1171, Lys1168, and isoforms=1033
  • Modification sites at PhosphoSitePlus

Other Protein References for IGF1R Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for IGF1R Gene

Domains & Families for IGF1R Gene

Gene Families for IGF1R Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for IGF1R Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for IGF1R Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P08069

UniProtKB/Swiss-Prot:

IGF1R_HUMAN :
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily.
genes like me logo Genes that share domains with IGF1R: view

Function for IGF1R Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
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Molecular function for IGF1R Gene

UniProtKB/Swiss-Prot 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 crucial for tumor transformation and survival of malignant cell. Ligand binding activates the receptor kinase, leading to receptor autophosphorylation, and tyrosines phosphorylation of multiple substrates, that function as signaling adapter proteins including, the insulin-receptor substrates (IRS1/2), Shc and 14-3-3 proteins. Phosphorylation of IRSs proteins lead to the activation of two main signaling pathways: the PI3K-AKT/PKB pathway and the Ras-MAPK pathway. The result of activating the MAPK pathway is increased cellular proliferation, whereas activating the PI3K pathway inhibits apoptosis and stimulates protein synthesis. Phosphorylated IRS1 can activate the 85 kDa regulatory subunit of PI3K (PIK3R1), leading to activation of several downstream substrates, including protein AKT/PKB. AKT phosphorylation, in turn, enhances protein synthesis through mTOR activation and triggers the antiapoptotic effects of IGFIR through phosphorylation and inactivation of BAD. In parallel to PI3K-driven signaling, recruitment of Grb2/SOS by phosphorylated IRS1 or Shc leads to recruitment of Ras and activation of the ras-MAPK pathway. In addition to these two main signaling pathways IGF1R signals also through the Janus kinase/signal transducer and activator of transcription pathway (JAK/STAT). Phosphorylation of JAK proteins can lead to phosphorylation/activation of signal transducers and activators of transcription (STAT) proteins. In particular activation of STAT3, may be essential for the transforming activity of IGF1R. The JAK/STAT pathway activates gene transcription and may be responsible for the transforming activity. JNK kinases can also be activated by the IGF1R. IGF1 exerts inhibiting activities on JNK activation via phosphorylation and inhibition of MAP3K5/ASK1, which is able to directly associate with the IGF1R.
UniProtKB/Swiss-Prot Function:
When present in a hybrid receptor with INSR, binds IGF1. PubMed:12138094 shows that hybrid receptors composed of IGF1R and INSR isoform Long are activated with a high affinity by IGF1, with low affinity by IGF2 and not significantly activated by insulin, and that hybrid receptors composed of IGF1R and INSR isoform Short are activated by IGF1, IGF2 and insulin. In contrast, PubMed:16831875 shows that hybrid receptors composed of IGF1R and INSR isoform Long and hybrid receptors composed of IGF1R and INSR isoform Short have similar binding characteristics, both bind IGF1 and have a low affinity for insulin.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by autophosphorylation at Tyr-1165, Tyr-1161 and Tyr-1166 on the kinase activation loop; phosphorylation at all three tyrosine residues is required for optimal kinase activity. Inhibited by MSC1609119A-1, BMS-754807, PQIP, benzimidazole pyridinone, isoquinolinedione, bis-azaindole, 3-cyanoquinoline, 2,4-bis-arylamino-1,3-pyrimidine, pyrrolopyrimidine, pyrrole-5-carboxaldehyde, picropodophyllin (PPP), tyrphostin derivatives. While most inhibitors bind to the ATP binding pocket, MSC1609119A-1 functions as allosteric inhibitor and binds close to the DFG motif and the activation loop.
GENATLAS Biochemistry:
insulin-like growth factor 1,receptor

Enzyme Numbers (IUBMB) for IGF1R Gene

Phenotypes From GWAS Catalog for IGF1R Gene

Gene Ontology (GO) - Molecular Function for IGF1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004709 MAP kinase kinase kinase activity IBA --
GO:0004713 protein tyrosine kinase activity TAS,IEA --
GO:0004714 transmembrane receptor protein tyrosine kinase activity IEA,IBA --
GO:0004888 transmembrane signaling receptor activity IBA --
genes like me logo Genes that share ontologies with IGF1R: view

Phenotypes for IGF1R Gene

MGI mutant phenotypes for IGF1R:
inferred from 8 alleles
GenomeRNAi human phenotypes for IGF1R:
genes like me logo Genes that share phenotypes with IGF1R: view

Human Phenotype Ontology for IGF1R Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IGF1R Gene

MGI Knock Outs for IGF1R:

Animal Model Products

  • Taconic Biosciences Mouse Models for IGF1R

miRNA for IGF1R Gene

miRTarBase miRNAs that target IGF1R

Clone Products

  • Addgene plasmids for IGF1R

No data available for Transcription Factor Targets and HOMER Transcription for IGF1R Gene

Localization for IGF1R Gene

Subcellular locations from UniProtKB/Swiss-Prot for IGF1R Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IGF1R gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
lysosome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IGF1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005886 plasma membrane ISS,TAS --
GO:0005887 integral component of plasma membrane IC 7679099
GO:0016020 membrane IDA,IEA 8452530
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with IGF1R: view

Pathways & Interactions for IGF1R Gene

genes like me logo Genes that share pathways with IGF1R: view

Pathways by source for IGF1R Gene

2 Sino Biological pathways for IGF1R Gene
2 Cell Signaling Technology pathways for IGF1R Gene

SIGNOR curated interactions for IGF1R Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for IGF1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0006955 immune response IMP 16886151
GO:0007165 signal transduction TAS 3003744
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IEA --
GO:0007275 multicellular organism development IBA --
genes like me logo Genes that share ontologies with IGF1R: view

Drugs & Compounds for IGF1R Gene

Products:

  1. Drug

(139) Drugs for IGF1R Gene - From: DrugBank, ClinicalTrials, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mecasermin Approved, Investigational Pharma inhibitor, Target, agonist 0
Paclitaxel Approved, Vet_approved Pharma Tubulin and Bcl2 inhibitor, Taxanes 3027
brigatinib Approved, Investigational Pharma Target, inhibitor 0
Insulin Glargine Approved Pharma Target, agonist 557
Insulin Human Approved, Investigational Pharma Target 0

(54) Additional Compounds for IGF1R Gene - From: Novoseek, IUPHAR, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
IGF1
IGF2
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
GSK 1838705
1116235-97-2
Insulin (human) recombinant
11061-68-0

(5) Tocris Compounds for IGF1R Gene

Compound Action Cas Number
Demethylasterriquinone B1 Selective insulin RTK activator 78860-34-1
GSK 1838705 Potent IR and IGF1R inhibitor; also inhibits anaplastic lymphoma kinase (ALK) 1116235-97-2
Insulin (human) recombinant Endogenous peptide agonist 11061-68-0
Picropodophyllotoxin Selective IGF1R inhibitor 477-47-4
PQ 401 IGF1R inhibitor 196868-63-0
genes like me logo Genes that share compounds with IGF1R: view

Transcripts for IGF1R Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for IGF1R Gene

(10) REFSEQ mRNAs :
(15) Additional mRNA sequences :
(28) Selected AceView cDNA sequences:
(17) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for IGF1R Gene

Insulin-like growth factor 1 receptor:
Representative Sequences:

Clone Products

  • Addgene plasmids for IGF1R

Alternative Splicing Database (ASD) splice patterns (SP) for IGF1R Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18 ^ 19a ·
SP1: - - - - - - - - -
SP2:
SP3: - - -
SP4: - - - -
SP5:
SP6: - - - - -
SP7: - -
SP8: -
SP9:
SP10:
SP11:
SP12:

ExUns: 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30a · 30b
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for IGF1R Gene

GeneLoc Exon Structure for
IGF1R
ECgene alternative splicing isoforms for
IGF1R

Expression for IGF1R Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IGF1R Gene

mRNA expression in normal human tissues for IGF1R Gene
mRNA expression by GTEx for IGF1R GenemRNA expression by BioGPS for IGF1R Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for IGF1R Gene

This gene is overexpressed in Fetal Brain (13.5), Bone (11.7), Retina (6.6), Lung (6.4), and Testis (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IGF1R Gene



Protein tissue co-expression partners for IGF1R Gene

NURSA nuclear receptor signaling pathways regulating expression of IGF1R Gene:

IGF1R

SOURCE GeneReport for Unigene cluster for IGF1R Gene:

Hs.643120

mRNA Expression by UniProt/SwissProt for IGF1R Gene:

P08069-IGF1R_HUMAN
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 melanomas, cancers of the colon, pancreas prostate and kidney.

Evidence on tissue expression from TISSUES for IGF1R Gene

  • Nervous system(4.8)
  • Skin(4.5)
  • Pancreas(3.3)
  • Lung(3)
  • Muscle(2.8)
  • Intestine(2.7)
  • Kidney(2.6)
  • Liver(2.6)
  • Heart(2.5)
  • Blood(2.4)
  • Thyroid gland(2.3)
  • Eye(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IGF1R Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
Thorax:
  • breast
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with IGF1R: view

No data available for mRNA differential expression in normal tissues for IGF1R Gene

Orthologs for IGF1R Gene

This gene was present in the common ancestor of animals.

Orthologs for IGF1R Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia IGF1R 34 33
  • 99.49 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia IGFR1 34
  • 98 (a)
 OneToOne
IGF1R 33
  • 91.44 (n)
dog
(Canis familiaris)
 Mammalia IGF1R 34 33
  • 91.68 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Igf1r 16 34 33
  • 89.56 (n)
rat
(Rattus norvegicus)
 Mammalia Igf1r 33
  • 89.35 (n)
oppossum
(Monodelphis domestica)
 Mammalia IGF1R 34
  • 89 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia IGF1R 34
  • 67 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves IGF1R 34 33
  • 79.45 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia IGF1R 34
  • 80 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia igf1r 33
  • 72.12 (n)
Str.14302 33
African clawed frog
(Xenopus laevis)
 Amphibia LOC398022 33
zebrafish
(Danio rerio)
 Actinopterygii igf1ra 34 33 33
  • 68.51 (n)
 OneToMany
igf1rb 34
  • 64 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta InR 35 33
  • 50.34 (n)
sev 35
  • 49 (a)
hop 35
  • 34 (a)
CG3837 34 35
  • 28 (a)
 OneToMany
CG10702 35
  • 26 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta INR 33
  • 50.28 (n)
worm
(Caenorhabditis elegans)
 Secernentea daf-2 34 35 33
  • 45.03 (n)
 OneToMany
R151.4 35
  • 38 (a)
K09B11.5 35
  • 35 (a)
W02A2.4 35
  • 34 (a)
C24G6.2b 35
  • 34 (a)
C24G6.2a 35
  • 34 (a)
Y69E1A.3 35
  • 32 (a)
T25B9.5 35
  • 32 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 38 (a)
 OneToMany
Cin.344 33
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.344 33
Species where no ortholog for IGF1R was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for IGF1R Gene

ENSEMBL:
Gene Tree for IGF1R (if available)
TreeFam:
Gene Tree for IGF1R (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IGF1R: view image

Paralogs for IGF1R Gene

Paralogs for IGF1R Gene

(27) SIMAP similar genes for IGF1R Gene using alignment to 7 proteins:

  • IGF1R_HUMAN
  • C9J5X1_HUMAN
  • H0YLE7_HUMAN
  • H0YMJ5_HUMAN
  • H0YNR0_HUMAN
  • H3BSZ8_HUMAN
  • Q3B833_HUMAN
genes like me logo Genes that share paralogs with IGF1R: view

Variants for IGF1R Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for IGF1R Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1007391014 uncertain-significance, Insulin-Like Growth Factor I Resistance 98,960,905(+) G/A/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1024322995 uncertain-significance, Insulin-Like Growth Factor I Resistance 98,958,484(+) C/T 3_prime_UTR_variant
rs1025286045 uncertain-significance, Insulin-Like Growth Factor I Resistance 98,957,804(+) T/C 3_prime_UTR_variant, intron_variant
rs1034126647 uncertain-significance, Insulin-Like Growth Factor I Resistance 98,963,674(+) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1058696 likely-benign, Insulin-Like Growth Factor I Resistance 98,959,298(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for IGF1R Gene

Variant ID Type Subtype PubMed ID
dgv466e214 CNV gain 21293372
dgv4763n54 CNV gain 21841781
dgv4764n54 CNV gain+loss 21841781
dgv4765n54 CNV loss 21841781
dgv4766n54 CNV loss 21841781
esv27037 CNV loss 19812545
esv2750108 CNV deletion 23290073
esv2750109 CNV deletion 23290073
esv32729 CNV gain 17666407
esv33604 CNV gain 17666407
esv3581854 CNV loss 25503493
esv3637411 CNV gain 21293372
esv3892740 CNV loss 25118596
nsv1037264 CNV loss 25217958
nsv1045124 CNV gain 25217958
nsv1055008 CNV gain 25217958
nsv1071238 CNV deletion 25765185
nsv1144746 CNV deletion 24896259
nsv526399 CNV loss 19592680
nsv570694 CNV gain+loss 21841781
nsv570701 CNV gain 21841781
nsv570705 CNV gain 21841781
nsv827457 CNV gain 20364138
nsv952034 CNV deletion 24416366

Variation tolerance for IGF1R Gene

Residual Variation Intolerance Score: 1.42% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.73; 46.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IGF1R Gene

Human Gene Mutation Database (HGMD)
IGF1R
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IGF1R

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IGF1R Gene

Disorders for IGF1R Gene

MalaCards: The human disease database

(36) MalaCards diseases for IGF1R Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
insulin-like growth factor i
  • insulin-like growth factor i, resistance to
ring chromosome 15
  • chromosome 15 ring
donohue syndrome
  • leprechaunism
short syndrome
  • short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay
acanthosis nigricans
  • an - acanthosis nigricans
- elite association - COSMIC cancer census association via MalaCards
Search IGF1R in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IGF1R_HUMAN
  • Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450]: A disorder characterized by intrauterine growth retardation, poor postnatal growth and increased plasma IGF1 levels. {ECO:0000269 PubMed:14657428, ECO:0000269 PubMed:15928254, ECO:0000269 PubMed:25040157}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for IGF1R

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with IGF1R: view

No data available for Genatlas for IGF1R Gene

Publications for IGF1R Gene