Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate. The binding sites for each ligand are located on different segments of the protein. This receptor has various functions, including in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2... See more...
Aliases for IGF2R Gene
Aliases for IGF2R Gene
- Insulin Like Growth Factor 2 Receptor 2 3 5
- MPRI 2 3 4
- Cation-Independent Mannose-6-Phosphate Receptor 3 4
- Insulin-Like Growth Factor II Receptor 3 4
- Insulin-Like Growth Factor 2 Receptor 2 4
- 300 KDa Mannose 6-Phosphate Receptor 3 4
- CI Man-6-P Receptor 3 4
- M6P/IGF2 Receptor 3 4
- IGF-II Receptor 3 4
- M6P/IGF2R 3 4
- CI-M6PR 2 3
External Ids for IGF2R Gene
- HGNC: 5467
- NCBI Entrez Gene: 3482
- Ensembl: ENSG00000197081
- OMIM®: 147280
- UniProtKB/Swiss-Prot: P11717
Previous GeneCards Identifiers for IGF2R Gene
- GC06P159829
- GC06P160263
- GC06P160299
- GC06P160360
- GC06P160310
- GC06P160390
- GC06P157860
Summaries for IGF2R Gene
-
This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate. The binding sites for each ligand are located on different segments of the protein. This receptor has various functions, including in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. Mutation or loss of heterozygosity of this gene has been association with risk of hepatocellular carcinoma. The orthologous mouse gene is imprinted and shows exclusive expression from the maternal allele; however, imprinting of the human gene may be polymorphic, as only a minority of individuals showed biased expression from the maternal allele (PMID:8267611). [provided by RefSeq, Nov 2015]
GeneCards Summary for IGF2R Gene
IGF2R (Insulin Like Growth Factor 2 Receptor) is a Protein Coding gene. Diseases associated with IGF2R include Hepatocellular Carcinoma and Adult Hepatocellular Carcinoma. Among its related pathways are Lysosome and Retrograde transport at the Trans-Golgi-Network. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and enzyme binding.
UniProtKB/Swiss-Prot Summary for IGF2R Gene
-
Mediates the transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes (PubMed:2963003, PubMed:18817523). Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelysosomal compartment where the low pH mediates the dissociation of the complex (PubMed:2963003, PubMed:18817523). The receptor is then recycled back to the Golgi for another round of trafficking through its binding to the retromer (PubMed:18817523). This receptor also binds IGF2 (PubMed:18046459). Acts as a positive regulator of T-cell coactivation by binding DPP4 (PubMed:10900005).
-
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.
Additional gene information for IGF2R Gene
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IGF2R Gene
Genomics for IGF2R Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for IGF2R Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around IGF2R on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IGF2R
- Top Transcription factor binding sites by QIAGEN in the IGF2R gene promoter:
-
- AP-1
- ATF-2
- c-Fos
- c-Jun
- ER-alpha
- Sox5
- SRY
Genomic Locations for IGF2R Gene
Latest Assembly
- chr6:159,969,082-160,113,507
- (GRCh38/hg38)
- Size:
- 144,426 bases
- Orientation:
- Plus strand
Previous Assembly
- chr6:160,390,114-160,532,536
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 142,423 bases
- Orientation:
- Plus strand
Genomic View for IGF2R Gene
Genes around IGF2R on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6q25.3 by HGNC
- 6q25.3 by Entrez Gene
- 6q25.3 by Ensembl
IGF2R Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for IGF2R Gene
Proteins for IGF2R Gene
-
Protein details for IGF2R Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P11717-MPRI_HUMAN
- Recommended name:
- Cation-independent mannose-6-phosphate receptor
- Protein Accession:
- P11717
- Q7Z7G9
- Q96PT5
Protein attributes for IGF2R Gene
- Size:
- 2491 amino acids
- Molecular mass:
- 274375 Da
- Quaternary structure:
-
- Binds HA-I and HA-II plasma membrane adapters (By similarity). Interacts with DPP4; the interaction is direct. Binds GGA1, GGA2 and GGA3. Interacts with the heterotrimeric retromer cargo-selective complex (CSC), formed by VPS26 (VPS26A or VPS26B), VPS29 and VPS35; which is involved in retrograde trafficking of the receptor from endosomes to the Golgi apparatus (Probable).
Protein Expression for IGF2R Gene
Post-translational modifications for IGF2R Gene
- Palmitoylated (PubMed:18817523). Undergoes cysteine S-palmitoylation which promotes interaction with the retromer cargo-selective complex which mediates its retrograde trafficking to the Golgi apparatus (PubMed:18817523).
-
Glycosylation at Asn67, Asn112, Asn210, Asn400, Asn435, Asn517, Asn543, Asn581, Asn626, Asn747, Asn871, Asn951, Asn957, Asn1164, Asn1246, Asn1312, Asn1656, Asn1757, Asn1816, Asn2085, Asn2136, and Asn2348
- NX_P11717 (NX_P11717-1)
- Modification sites at PhosphoSitePlus
-
Glycosylation from GlyConnect
- MPRI_HUMAN (1084)
Other Protein References for IGF2R Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences IGF2R / CD222 Antibody
- G Biosciences Immunotag™ IGF2R Antibody
- NSJ Bioreagents IGF2R Antibody M6PR
-
Custom Antibody ServicesOriGene Antibodies for IGF2R
- Novus Biologicals Antibodies for IGF2R
-
Abcam antibodies for IGF2R
- Invitrogen Antibodies for IGF2R (AFLGC-IGF2R)
-
Boster Bio Antibodies for IGF2R
-
Santa Cruz Biotechnology (SCBT) Antibodies for IGF2R
- Sino Biological Antibodies for IGF2R
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for IGF2R
- Origene Custom Protein Services for IGF2R
- Novus Biologicals proteins for IGF2R
- antibodies-online: Show 10 available IGF2R Proteins ranked by validation data
- Compare Top IGF2R Proteins
-
Quality Products:
-
Abcam proteins for IGF2R
Assay products for research
- RayBiotech Human IGF2R ELISA
-
Custom Assay ServicesOriGene ELISA Kits for IGF2R
-
Boster Bio ELISA Kits for IGF2R
-
Abcam assays for IGF2R
No data available for DME Specific Peptides for IGF2R Gene
Domains & Families for IGF2R Gene
Gene Families for IGF2R Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- CD markers
- Plasma proteins
- Predicted intracellular proteins
- Predicted membrane proteins
- Transporters
Protein Domains for IGF2R Gene
- InterPro:
- Blocks:
-
- Type II fibronectin collagen-binding domain
Suggested Antigen Peptide Sequences for IGF2R Gene
- GenScript: Design optimal peptide antigens:
-
- Insulin-like growth factor type II receptor (A0N9R6_HUMAN)
- Insulin-like growth factor type II receptor (A0N9R7_HUMAN)
- Insulin-like growth factor type II receptor (A0N9R9_HUMAN)
- M6P/IGF2 receptor (MPRI_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P11717UniProtKB/Swiss-Prot:
MPRI_HUMAN :- Contains 15 repeating units of approximately 147 AA harboring four disulfide bonds each. The most highly conserved region within the repeat consists of a stretch of 13 AA that contains cysteines at both ends.
- Belongs to the MRL1/IGF2R family.
- Domain:
-
- Contains 15 repeating units of approximately 147 AA harboring four disulfide bonds each. The most highly conserved region within the repeat consists of a stretch of 13 AA that contains cysteines at both ends.
- Family:
-
- Belongs to the MRL1/IGF2R family.
Function for IGF2R Gene
Molecular function for IGF2R Gene
- UniProtKB/Swiss-Prot Function:
- Mediates the transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes (PubMed:2963003, PubMed:18817523). Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelysosomal compartment where the low pH mediates the dissociation of the complex (PubMed:2963003, PubMed:18817523). The receptor is then recycled back to the Golgi for another round of trafficking through its binding to the retromer (PubMed:18817523). This receptor also binds IGF2 (PubMed:18046459). Acts as a positive regulator of T-cell coactivation by binding DPP4 (PubMed:10900005).
- GENATLAS Biochemistry:
- insulin-like growth factor 2,300kDa,non mitogenic receptor interacting with retinoic acid,targetting IGF2 to the lysosomes for degradation,imprinted in a proportion of normal individuals,involved in suppression of breast,tumor and promyelocytic leukemia (see TSG6C) and gastric carcinomas,mutated in endometrial atypical hyperplasia and other cancers (alteration of ligand binding)
Phenotypes From GWAS Catalog for IGF2R Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001965 | G-protein alpha-subunit binding | IEA | -- |
| GO:0001972 | retinoic acid binding | IEA | -- |
| GO:0005010 | insulin-like growth factor-activated receptor activity | TAS | 10799489 |
| GO:0005515 | protein binding | IDA,IPI | 10900005 |
| GO:0005520 | insulin-like growth factor binding | IEA,IBA | 21873635 |
Phenotypes for IGF2R Gene
- MGI mutant phenotypes for IGF2R:
-
inferred from 8 alleles
- normal phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- respiratory system phenotype
- mortality/aging
- renal/urinary system phenotype
- liver/biliary system phenotype
- hematopoietic system phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- embryo phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for IGF2R:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability
- no effect
- Decreased viability ratio
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased shRNA abundance (Z-score < -2)
- Increased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Increased viability
- Increased shRNA abundance (Z-score > 2)
Animal Models for IGF2R Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for IGF2R - Starting at $85 >
- * IGF2R CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for IGF2R
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IGF2R
-
Santa Cruz Biotechnology (SCBT) CRISPR for IGF2R
miRNA for IGF2R Gene
- miRTarBase miRNAs that target IGF2R
-
- hsa-miR-16-5p (MIRT001451)
- hsa-miR-657 (MIRT016136)
- hsa-miR-155-5p (MIRT020747)
- hsa-miR-9-5p (MIRT021356)
- hsa-miR-26b-5p (MIRT029460)
- hsa-miR-1271-5p (MIRT036067)
- hsa-miR-423-3p (MIRT042556)
- hsa-miR-128-3p (MIRT045878)
- hsa-miR-211-5p (MIRT054454)
- hsa-miR-545-5p (MIRT316722)
- hsa-miR-412-3p (MIRT440461)
- hsa-miR-377-3p (MIRT440462)
- hsa-miR-218-5p (MIRT440463)
- hsa-miR-96-3p (MIRT457092)
- hsa-miR-2681-3p (MIRT457093)
- hsa-miR-548m (MIRT457094)
- hsa-miR-8485 (MIRT607437)
- hsa-miR-7977 (MIRT672614)
- hsa-miR-4284 (MIRT672616)
- hsa-miR-24-3p (MIRT672617)
- hsa-miR-564 (MIRT672618)
- hsa-miR-6860 (MIRT672619)
- hsa-miR-612 (MIRT672620)
- hsa-miR-5189-5p (MIRT672621)
- hsa-miR-3187-5p (MIRT672622)
- hsa-miR-1285-3p (MIRT672623)
- hsa-miR-383-3p (MIRT672624)
- hsa-miR-342-3p (MIRT672625)
- hsa-miR-6777-3p (MIRT672626)
- hsa-miR-6089 (MIRT679245)
- hsa-miR-561-5p (MIRT713895)
- hsa-miR-6715b-3p (MIRT713896)
- hsa-miR-4742-3p (MIRT713897)
- hsa-miR-6715a-3p (MIRT713898)
- hsa-miR-1178-5p (MIRT713899)
- hsa-miR-649 (MIRT713900)
- hsa-miR-106a-3p (MIRT713901)
- hsa-miR-1296-5p (MIRT713902)
- hsa-miR-6877-5p (MIRT713903)
- hsa-miR-4480 (MIRT713904)
- hsa-miR-5008-5p (MIRT713905)
- hsa-miR-3146 (MIRT713906)
- hsa-miR-454-3p (MIRT713907)
- hsa-miR-4295 (MIRT713908)
- hsa-miR-3666 (MIRT713909)
- hsa-miR-301b-3p (MIRT713910)
- hsa-miR-301a-3p (MIRT713911)
- hsa-miR-130b-3p (MIRT713912)
- hsa-miR-130a-3p (MIRT713913)
- hsa-miR-4512 (MIRT713914)
- hsa-miR-6895-5p (MIRT713915)
- hsa-miR-519c-3p (MIRT713916)
- hsa-miR-519b-3p (MIRT713917)
- hsa-miR-519a-3p (MIRT713918)
- hsa-miR-1247-3p (MIRT736383)
- hsa-miR-1827 (MIRT738111)
- hsa-miR-1910-3p (MIRT738412)
- hsa-miR-3612 (MIRT741575)
- hsa-miR-4537 (MIRT746089)
- hsa-miR-455-3p (MIRT746183)
- hsa-miR-4756-3p (MIRT748386)
- hsa-miR-5186 (MIRT749830)
- hsa-miR-5694 (MIRT751245)
- hsa-miR-6499-3p (MIRT752798)
- hsa-miR-650 (MIRT753023)
- hsa-miR-6511a-5p (MIRT753137)
- hsa-miR-6516-5p (MIRT753343)
- hsa-miR-4252 (MIRT768002)
- hsa-miR-4719 (MIRT786518)
- hsa-miR-551b-5p (MIRT787617)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IGF2R
- Browse OriGene Inhibitory RNA Products For IGF2R
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IGF2R
Clone products for research
- Applied Biological Materials (abm): Clones for IGF2R - Starting at $45 >
- * IGF2R as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IGF2R
Cell Lines for research
-
Horizon Cell Lines for IGF2R
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for IGF2R Gene
Localization for IGF2R Gene
Subcellular locations from UniProtKB/Swiss-Prot for IGF2R Gene
- Golgi apparatus membrane. Single-pass type I membrane protein. Endosome membrane. Single-pass type I membrane protein. Note=Mainly localized in the Golgi at steady state and not detectable in lysosome (PubMed:18817523). Colocalized with DPP4 in internalized cytoplasmic vesicles adjacent to the cell surface (PubMed:10900005). {ECO:0000269 PubMed:10900005, ECO:0000269 PubMed:18817523}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| endosome | 5 |
| golgi apparatus | 5 |
| nucleus | 4 |
| lysosome | 3 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| peroxisome | 1 |
- Golgi apparatus (4)
- Vesicles (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IEA | -- |
| GO:0005615 | extracellular space | IEA | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005641 | nuclear envelope lumen | IEA | -- |
| GO:0005768 | endosome | IDA | 15078902 |
Pathways & Interactions for IGF2R Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Apoptotic Pathways in Synovial Fibroblasts |
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
|
PPAR Pathway
.66
Rac1 Pathway
.65
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Nuclear Receptor Activation by Vitamin-A
.57
|
| 2 | Apoptosis Pathway |
.39
|
|
| 3 | Clathrin derived vesicle budding | ||
| 4 | Innate Immune System |
.61
|
|
| 5 | MAPK Signaling: Mitogen Stimulation Pathway | ||
Pathways by source for IGF2R Gene
12 Reactome pathways for IGF2R Gene
2 KEGG pathways for IGF2R Gene
3 R&D Systems pathways for IGF2R Gene
5 Tocris pathways for IGF2R Gene
23 Qiagen pathways for IGF2R Gene
- Actin-Based Motility by Rho Family GTPases
- Activation of PKC through GPCR
- Antioxidant Action of Vitamin-C
- Apoptotic Pathways in Synovial Fibroblasts
- Breast Cancer Regulation by Stathmin1
2 Cell Signaling Technology pathways for IGF2R Gene
Interacting Proteins for IGF2R Gene
Selected Interacting proteins:
P11717-MPRI_HUMAN
ENSP00000349437
for IGF2R Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for IGF2R
SIGNOR curated interactions for IGF2R Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001889 | liver development | IEA | -- |
| GO:0006898 | receptor-mediated endocytosis | TAS | 10799489 |
| GO:0007041 | lysosomal transport | IEA | -- |
| GO:0007165 | signal transduction | TAS | 7753549 |
| GO:0007186 | G protein-coupled receptor signaling pathway | IEA | -- |
Drugs & Compounds for IGF2R Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| cerliponase alfa | Approved, Investigational | Pharma | Target, ligand | 0 | ||
| Mecasermin | Approved, Investigational | Pharma | Target | 36 | ||
| Mecasermin rinfabate | Approved | Pharma | Target | 0 | ||
| alpha-D-mannose 6-phosphate | Experimental | Pharma | Target | 0 | ||
| mannose | Investigational | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| GSK 1838705 |
|
1116235-97-2 |
|
|
||
| Insulin (human) recombinant |
|
11061-68-0 |
|
|
||
| Picropodophyllotoxin |
|
477-47-4 |
|
|
(5) Tocris Compounds for IGF2R 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 |
Transcripts for IGF2R Gene
mRNA/cDNA for IGF2R Gene
- 1 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000356956 14061 nts (view in UCSC)
- ENST00000475584 597 nts (view in UCSC)
- ENST00000475834 762 nts (view in UCSC)
- ENST00000487607 355 nts (view in UCSC)
- ENST00000569097 5609 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for IGF2R - Starting at $85 >
- * IGF2R CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for IGF2R
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IGF2R
-
Santa Cruz Biotechnology (SCBT) CRISPR for IGF2R
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IGF2R
- Browse OriGene Inhibitory RNA Products For IGF2R
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IGF2R
Clone products for research
- Applied Biological Materials (abm): Clones for IGF2R - Starting at $45 >
- * IGF2R as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IGF2R
Relevant External Links for IGF2R Gene
- GeneLoc Exon Structure for
- IGF2R
Expression for IGF2R Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Zygote (Early Embryonic Tissues)
- Zygote Zygote
- Morula Cells Morula
- 8-Cell Embryo Morula
-
Inner Cell Mass (Early Embryo)
- Zygote Zygote
- Morula Cells Morula
- 8-Cell Embryo Morula
-
Trophoblast (Extraembryonic Tissues)
- Zygote Zygote
- Morula Cells Morula
- 8-Cell Embryo Morula
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
mRNA differential expression in normal tissues according to GTEx for IGF2R Gene
This gene is overexpressed in Whole Blood (x4.9) and Muscle - Skeletal (x4.6).
This gene is overexpressed in Serum (23.2), Peripheral blood mononuclear cells (7.8), and Amniocyte (6.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IGF2R Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IGF2R
SOURCE GeneReport for Unigene cluster for IGF2R Gene:
Hs.487062Evidence on tissue expression from TISSUES for IGF2R Gene
- Liver(4.8)
- Blood(4.6)
- Nervous system(3.9)
- Lung(3.4)
- Intestine(3.4)
- Kidney(3.4)
- Heart(3.1)
- Adrenal gland(3.1)
- Muscle(3)
- Skin(2.7)
- Pancreas(2.7)
- Spleen(2.7)
- Eye(2.6)
- Stomach(2.3)
- Thyroid gland(2.2)
- Bone marrow(2.1)
- Lymph node(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for IGF2R Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- reproductive
- skeletal muscle
- urinary
Regions:
Head and neck:
- brain
- head
- mouth
- salivary gland
Thorax:
- breast
- esophagus
Abdomen:
- kidney
- liver
- spleen
Pelvis:
- testicle
Limb:
- digit
- finger
- foot
- hand
- lower limb
- nail
- toe
- upper limb
General:
- blood vessel
- coagulation system
- skin
Primer products for research
-
OriGene qPCR primer pairs for IGF2R
Gene Expression Assays for research
No data available for mRNA Expression by UniProt/SwissProt for IGF2R Gene
Orthologs for IGF2R Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | IGF2R 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CI-MPR/IGF2R 30 |
|
OneToOne | |
| IGF2R 29 |
|
||||
| Rat (Rattus norvegicus) |
Mammalia | Igf2r 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Igf2r 29 16 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | IGF2R 29 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 30 |
|
OneToMany | |
| -- 30 |
|
OneToMany | |||
| M6P/IGF2R 30 |
|
OneToMany | |||
| -- 30 |
|
OneToMany | |||
| Oppossum (Monodelphis domestica) |
Mammalia | IGF2R 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | IGF2R 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 30 |
|
OneToMany | |
| -- 30 |
|
OneToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | igf2r 29 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.2029 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | igf2r 29 30 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5040 29 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Lerp 30 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MRL1 32 |
|
|
|
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
OneToOne |
- Species where no ortholog for IGF2R was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- 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)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- 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)
- Worm (Caenorhabditis elegans)
Evolution for IGF2R Gene
- ENSEMBL:
- Gene Tree for IGF2R (if available)
- TreeFam:
- Gene Tree for IGF2R (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for IGF2R: view image
- Alliance of Genome Resources:
- Additional Orthologs for IGF2R
Paralogs for IGF2R Gene
No data available for Paralogs for IGF2R Gene
Variants for IGF2R Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IGF2R Gene
| SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 915431 | Likely Pathogenic: Hepatocellular carcinoma | 159,969,289(+) |
CCCGCCCG/C NM_000876.4(IGF2R):c.45_51CGCCCGC[1] (p.Arg18fs) |
FRAMESHIFT | |
| 929753 | Likely Pathogenic: Premature ovarian failure | 160,010,723(+) |
C/T NM_000876.4(IGF2R):c.451C>T (p.His151Tyr) |
MISSENSE | |
| 978483 | Likely Benign: not provided | 160,062,603(+) |
C/T NM_000876.3(IGF2R):c.3654C>T (p.Pro1218=) |
SYNONYMOUS | |
| rs115412888 | Benign: not provided | 160,078,349(+) |
C/T NM_000876.3(IGF2R):c.5465C>T (p.Thr1822Met) |
MISSENSE | |
| rs121434587 | Pathogenic: Hepatocellular carcinoma | 160,069,961(+) |
G/T NM_000876.3(IGF2R):c.4346G>T (p.Gly1449Val) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1844e212 | CNV | loss | 25503493 |
| esv1004150 | CNV | deletion | 20482838 |
| esv1551954 | CNV | insertion | 17803354 |
| esv1707140 | CNV | deletion | 17803354 |
| esv23071 | CNV | loss | 19812545 |
| esv2664271 | CNV | deletion | 23128226 |
| esv2733038 | CNV | deletion | 23290073 |
| esv2733039 | CNV | deletion | 23290073 |
| esv2733041 | CNV | deletion | 23290073 |
| esv2733042 | CNV | deletion | 23290073 |
| esv2733043 | CNV | deletion | 23290073 |
| esv2733044 | CNV | deletion | 23290073 |
| esv2733045 | CNV | deletion | 23290073 |
| esv2759484 | CNV | gain+loss | 17122850 |
| esv28288 | CNV | loss | 19812545 |
| esv35098 | CNV | gain | 17911159 |
| esv3611425 | CNV | gain | 21293372 |
| esv3611426 | CNV | loss | 21293372 |
| nsv1074029 | CNV | deletion | 25765185 |
| nsv1074441 | CNV | deletion | 25765185 |
| nsv1126082 | CNV | deletion | 24896259 |
| nsv1140374 | OTHER | inversion | 24896259 |
| nsv472314 | CNV | novel sequence insertion | 20440878 |
| nsv5564 | CNV | insertion | 18451855 |
| nsv604996 | CNV | loss | 21841781 |
| nsv818463 | CNV | gain | 17921354 |
Residual Variation Intolerance Score:
5.96% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
11.16;
92.35% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for IGF2R Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IGF2R Gene
Disorders for IGF2R Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hepatocellular carcinoma |
|
|
| adult hepatocellular carcinoma |
|
|
| mucolipidosis ii alpha/beta |
|
|
| premature ovarian failure 1 |
|
|
| premature menopause |
|
|
Search IGF2R in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for IGF2R
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for IGF2R Gene
Publications for IGF2R Gene
- Genotypes and haplotypes in the insulin-like growth factors, their receptors and binding proteins in relation to plasma metabolic levels and mammographic density. (PMID: 20302654) Biong M … Kristensen VN (BMC medical genomics 2010) 3 22 40
- IGF2R missense single-nucleotide polymorphisms and breast cancer risk: the multiethnic cohort study. (PMID: 19435860) Cheng I … Haiman CA (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2009) 3 22 40
- IGF2R polymorphisms and risk of esophageal and gastric adenocarcinomas. (PMID: 19626700) Hoyo C … Gammon MD (International journal of cancer 2009) 3 22 40
- Structure and functional analysis of the IGF-II/IGF2R interaction. (PMID: 18046459) Brown J … Jones EY (The EMBO journal 2008) 3 4 22
- The 3' UTR IGF2R-A2/B2 variant is associated with increased tumor growth and advanced stages in non-small cell lung cancer. (PMID: 18037232) Kotsinas A … Gorgoulis VG (Cancer letters 2008) 3 22 40
ExternalLinks
Products for IGF2R Gene
- View all 8 R&D Systems IGF2R (IGF-II R/IGF2R) Products
- View all 2 R&D Systems IGF2R (IGF-II R/IGF2R) Proteins and Enzymes
- View all 5 R&D Systems IGF2R (IGF-II R/IGF2R) Primary Antibodies
- View all R&D Systems IGF2R (IGF-II R/IGF2R) ELISAs
- Learn more about R&D Systems custom IGF2R antibody, protein, and immunoassay development services
- Custom Antibody ServicesOriGene Antibodies for IGF2R
- Custom Assay ServicesOriGene ELISA Kits for IGF2R
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for IGF2R
- Origene Custom Protein Services for IGF2R
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IGF2R
- Browse OriGene Inhibitory RNA Products For IGF2R
- OriGene qPCR primer pairs for IGF2R
- OriGene CRISPR knockouts for IGF2R
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For IGF2R
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for IGF2R
- Browse Sino Biological Assays
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for IGF2R
- Novus Biologicals proteins for IGF2R
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for IGF2R
- Abcam proteins for IGF2R
- Abcam assays for IGF2R
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for IGF2R (AFLGC-IGF2R)
- VectorBuilder Custom and pre-made DNA vectors for IGF2R (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for IGF2R (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for IGF2R (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for IGF2R CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for IGF2R
- antibodies-online: Show 57 available IGF2R Antibodies ranked by validation data
- Compare Top IGF2R Antibodies
- antibodies-online: Show 35 available IGF2R Elisa Kits ranked by validation data
- Compare Top IGF2R Elisa Kits
- Quality Products:
- antibodies-online: Show 10 available IGF2R Proteins ranked by validation data
- Compare Top IGF2R Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for IGF2R
- Search Santa Cruz Biotechnology (SCBT) for IGF2R siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for IGF2R
- Custom Antibody ServicesProSci Antibodies for IGF2R
- Search for IGF2R Proteins at ProSci
- Horizon Cell Lines for IGF2R
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IGF2R
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IGF2R
- Search GeneCopoeia for miRNA 3'UTR Target clone products for IGF2R
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IGF2R
- Boster Bio Antibodies for IGF2R
- Boster Bio ELISA Kits for IGF2R
Sources for IGF2R Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources