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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

IGF2R Gene

protein-coding GIFtS: 68
GCID: GC06P160390

insulin-like growth factor 2 receptor

Explore 78 diseases affiliated with
IGF2R via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Insulin-Like Growth Factor 2 Receptor¹ ² ³		M6P/IGF2R² ³
MPRI¹ ² ³ ⁵		M6PR² ³
CD222¹ ²		CI Man-6-P Receptor² ³
CIMPR¹ ²		IGF-II Receptor² ³
M6P-R¹ ²		M6P/IGF2 Receptor² ³
MPR1¹ ²		MPR 300² ³
Insulin-Like Growth Factor II Receptor² ³		Cation-Independent Mannose-6 Phosphate Receptor²
300 KDa Mannose 6-Phosphate Receptor² ³		Cation-Independent Mannose-6-Phosphate Receptor²
CI-MPR² ³		CD222 Antigen³

External Ids:	HGNC: 5467¹	Entrez Gene: 3482²	Ensembl: ENSG00000197081⁷	OMIM: 147280⁵	UniProtKB: P11717³

Export aliases for IGF2R gene to outside databases

Previous GC identifers: GC06P159829 GC06P160263 GC06P160299 GC06P160360 GC06P160310 GC06P157860

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for IGF2R:

The protein encoded by this gene is a receptor for both, insulin-like growth factor 2 (IGF2) and mannose 6-phosphate

(M6P). The IGF2 and M6P binding sites are located on different segments of the receptor. This receptor functions in

the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the

degradation of IGF2. While the mouse Igf2r gene shows exclusive expression from the maternal allele, imprinting of the

human IGF2R gene appears to be polymorphic, with only a minority of individuals showing expression from the maternal

allele. (provided by RefSeq, Oct 2010)

UniProtKB/Swiss-Prot: MPRI_HUMAN, P11717

Function: Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes.

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 prelyosomal compartment where the low

pH mediates the dissociation of the complex. This receptor also binds IGF2. Acts as a positive regulator of T-cell

coactivation, by binding DPP4

Gene Wiki entry for IGF2R (Insulin-like growth factor 2 receptor)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.1 NT_025741.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the IGF2R gene promoter:
ER-alpha c-Fos Sox5 SRY AP-1 ATF-2 c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: IGF2R promoter sequence

Search SABiosciences Chromatin IP Primers for IGF2R

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IGF2R

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q26 Ensembl cytogenetic band: 6q25.3 HGNC cytogenetic band: 6q25-q27

IGF2R Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IGF2R gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06P160390: view genomic region (about GC identifiers)

Start:	160,390,131 bp from pter	End:	160,534,539 bp from pter
Size:	144,409 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MPRI_HUMAN, P11717 (See protein sequence)

Recommended Name: Cation-independent mannose-6-phosphate receptor precursor

Size: 2491 amino acids; 274375 Da

Subunit: Binds HA-I and HA-II plasma membrane adapters (By similarity). Interacts with DPP4; the interaction is direct.

Binds GGA1, GGA2 and GGA3

Subcellular location: Lysosome membrane; Single-pass type I membrane protein. Note=Colocalized with DPP4 in

internalized cytoplasmic vesicles adjacent to the cell surface

6/12 PDB 3D structures from and Proteopedia for IGF2R (see all 12):

1E6F (3D)

1GP0 (3D)

1GP3 (3D)

1GQB (3D)

1JWG (3D)

1LF8 (3D)

Secondary accessions: Q7Z7G9 Q96PT5

Explore the universe of human proteins at neXtProt for IGF2R: NX_P11717

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P11717

IGF2R Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000867.2

ENSEMBL proteins:

ENSP00000349437

Reactome Protein details: P11717
Human Recombinant Protein Products:

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	Uscn Proteins for IGF2R

Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005634	nucleus	--	--
GO:0005641	nuclear envelope lumen	IEA	--
GO:0005765	lysosomal membrane	IEA	--
GO:0005768	endosome	IDA	15078902

IGF2R for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for IGF2R

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

IGF2R for domains About GeneDecksing

4 InterPro domains/families:

IPR000479 CIMR

IPR009011 Man6P_isomerase_rcpt-bd_dom

IPR013806 Kringle-like

IPR000562 FN_type2_col-bd

Graphical View of Domain Structure for InterPro Entry P11717

ProtoNet protein and cluster: P11717

1 Blocks protein family: IPB000562 Type II fibronectin collagen-binding domain

UniProtKB/Swiss-Prot: MPRI_HUMAN, P11717

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

Similarity: Belongs to the MRL1/IGF2R family

Similarity: Contains 1 fibronectin type-II domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: MPRI_HUMAN, P11717

Function: Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes.

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 prelyosomal compartment where the low

pH mediates the dissociation of the complex. This receptor also binds IGF2. Acts as a positive regulator of T-cell

coactivation, by binding DPP4

Genatlas biochemistry entry for IGF2R:

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)

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		OriGene 3'-UTR Clone: IGF2R Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IGF2R
		8/43 QIAGEN miScript miRNA Assays for microRNAs that regulate IGF2R (see all 43):
		hsa-miR-3194-5p hsa-miR-3607-3p hsa-miR-429 hsa-miR-15a hsa-miR-30d hsa-miR-9 hsa-miR-424 hsa-miR-30a

		SwitchGear 3'UTR luciferase reporter plasmid: IGF2R 3' UTR sequence

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IGF2R

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001948	glycoprotein binding	IDA	10900005
GO:0004872	receptor activity	TAS	7753549
GO:0005010	insulin-like growth factor-activated receptor activity	TAS	10799489
GO:0005215	transporter activity	IEA	--
GO:0005515	protein binding	IPI	10900005

IGF2R for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for IGF2R: Igf2r^tm1Stw Igf2r^tm2Arge Igf2r^tm1Arge Igf2r^tm1.1Rlj
     15/17 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Igf2r) (see all 17):

behavior/neurological	cardiovascular system	cellular	craniofacial	embryogenesis
growth/size	hematopoietic system	homeostasis/metabolism	limbs/digits/tail	liver/biliary system
mortality/aging	nervous system	normal	renal/urinary system	reproductive system

IGF2R for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/13 super-pathways (see all 13) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Apoptotic Pathways in Synovial Fibroblasts

8/12 pathways (see all 12)
Apoptotic Pathways in Synovial Fibroblasts	1.00	Cellular Apoptosis Pathway	0.65
p53 Mediated Apoptosis	0.84	ERK5 Signaling	0.61
Mitochondrial Apoptosis	0.73	eIF2 Pathway	0.60
Telomerase Components in Cell Signaling	0.72	Rac1 Pathway	0.58

Clathrin derived vesicle budding

	Clathrin derived vesicle budding	1.00			Golgi Associated Vesicle Biogenesis	0.89
	trans-Golgi Network Vesicle Budding	1.00

Apoptosis Pathway

	Apoptosis Pathway	1.00			Akt Pathway	0.39
	NF-kappaB Pathway	0.45

mTOR Pathway

mTOR Pathway

1.00

Insulin Pathway

0.32

PTEN Pathway

PTEN Pathway

1.00

Phospholipase-C Pathway

0.56

Pathway sources
See GeneCards unified pathways
Show all pathways

5/23 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for IGF2R (see all 23)

	MAPK Signaling
	Nuclear Receptor Activation by Vitamin-A
	DHA Signaling
	Actin-Based Motility by Rho Family GTPases
	Telomerase Components in Cell Signaling

5 Tocris Bioscience Pathways for IGF2R

	Akt Pathway
	Insulin Pathway
	Apoptosis Pathway
	NF-kappaB Pathway
	mTOR Pathway

4 Reactome Pathways for IGF2R

	Membrane Trafficking
	Clathrin derived vesicle budding
	Golgi Associated Vesicle Biogenesis
	trans-Golgi Network Vesicle Budding

1 Kegg Pathway (Kegg details for IGF2R):

Lysosome

IGF2R for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for IGF2R

STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

5/26 Interacting proteins for IGF2R (P11717^{2, 3} ENSP00000349437⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 26)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
IGF2	P01344²^,³, ENSP00000338297⁴	MINT-6381282 MINT-6381591 MINT-6381798 MINT-6381176 MINT-6380974 MINT-6381828 MINT-6381259 MINT-6381034 MINT-6381394 MINT-6381465 MINT-6381218 MINT-6381323 MINT-6381777 MINT-6381202 MINT-6381450 MINT-6380995 MINT-6381420 I2D: score=1 STRING: ENSP00000338297
GGA1	Q9UJY5²^,³, ENSP00000341344⁴	MINT-16907 MINT-19069 MINT-19068 I2D: score=4 STRING: ENSP00000341344
PACS1	Q6VY07²^,³, ENSP00000316454⁴	MINT-3372458 MINT-3372208 I2D: score=2 STRING: ENSP00000316454
TGOLN2	O43493²^,³, ENSP00000366603⁴	MINT-3372318 I2D: score=1 STRING: ENSP00000366603
GGA3	Q9NZ52²^,³, ENSP00000245541⁴	MINT-18023 MINT-3372716 MINT-3372439 I2D: score=2 STRING: ENSP00000245541

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006898	receptor-mediated endocytosis	TAS	10799489
GO:0007165	signal transduction	TAS	7753549
GO:0048009	insulin-like growth factor receptor signaling pathway	TAS	10799489

IGF2R for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

IGF2R for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for IGF2R available from Tocris Bioscience About this table

Compound	Action	CAS #
Demethylasterriquinone B1	Selective insulin RTK activator	[78860-34-1]
PQ 401	IGF1R inhibitor	[196868-63-0]
Insulin (human) recombinant expressed in yeast	Endogenous peptide agonist	[11061-68-0]

1 HMDB Compound for IGF2R About this table

Compound	Synonyms	CAS #	PubMed Ids
Mannose 6-phosphate	D-Mannose 6-phosphate (see all 10)	3672-15-9	--

3 DrugBank Compounds for IGF2R About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Alpha-D-Mannose	--	3458-28-4	target	--	17139284 17016423 10592235
Alpha-D-Mannose-6-Phosphate	--	--	target	--	17139284 17016423 10592235
Mecasermin	--	68562-41-4	target	--	19198769

10/33 Novoseek chemical compound relationships for IGF2R gene (see all 33) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mannose 6-phosphate	98.1	528	17927214 (5), 20028034 (4), 17069798 (4), 1314098 (4) (see all 99)
perillyl alcohol	60.8	1	15569989 (1)
u18666a	59.6	12	15322907 (5), 12867541 (2), 17069798 (1)
mononucleotide	59.2	6	9349506 (1), 9777949 (1), 10757056 (1), 10398102 (1) (see all 6)
proliferin	57.4	1	1421424 (1)
mannose	52.6	11	10446221 (1), 14557264 (1), 15170390 (1), 17308058 (1) (see all 7)
maxon	45.4	3	10802648 (2), 9730607 (1)
glycogen	18	1	17952403 (1)
retinoic acid	16.6	24	16680587 (3), 18162363 (3), 9811861 (2), 8050357 (1) (see all 7)
heparan sulfate	13.6	1	16280358 (1)

Search CenterWatch for drugs/clinical trials and news about IGF2R / MPRI

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for IGF2R gene:

NM_000876.2

Unigene Cluster for IGF2R:

Insulin-like growth factor 2 receptor

Hs.487062 [show with all ESTs]

Unigene Representative Sequence: NM_000876

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000356956(uc003qta.3) ENST00000464636 ENST00000479434 ENST00000487607

ENST00000475834 ENST00000475584

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IGF2R

Additional cDNA sequence:

AB209668.1 AK300848.1 J03528.1 S80797.1 Y00285.1

10 DOTS entries:

DT.91709981 DT.451947 DT.418589 DT.97850807 DT.102830633 DT.92067790 DT.91832594 DT.91878764

DT.91953549 DT.97850809

24/411 AceView cDNA sequences (see all 411):

AA295971 BC010121 CF528488 AI678466 BF059121 BQ217605 BU683102 N67475

AU124259 BM743396 BQ716361 AI479256 BF000619 AI829889 BQ009176 F04030

AA054938 BX283477 BM727565 CA430612 BF445499 AA629592 BF222741 Y00285

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

IGF2R expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

IGF2R expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Early Embryo (Zygote)

Morula

8-Cell Embryo

Early Embryo

Early Embryo (Zygote)

Morula

Morula Cells

Early Embryo

Early Embryo (Zygote)

Zygote

Early Embryo

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See IGF2R Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for IGF2R

SOURCE GeneReport for Unigene cluster: Hs.487062

SABiosciences Expression via Pathway-Focused PCR Arrays including IGF2R:

Oncogenes & Tumor Suppressor Genes in human mouse rat

G Protein Coupled Receptors 384HT in human mouse rat

Cancer Drug Resistance in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IGF2R

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IGF2R

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for IGF2R gene from 6/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Igf2r^{1 , 5}	insulin-like growth factor 2 receptor^{1, 5}	80.5(n)¹ 81.76(a)¹		17 (8.64 cM)⁵ 16004¹ NM_010515.2¹ NP_034645.2¹ 12682406⁵
chicken (Gallus gallus)	Aves	IGF2R¹	insulin-like growth factor 2 receptor	64.27(n) 61.08(a)		395817 NM_204970.1 NP_990301.1
lizard (Anolis carolinensis)	Reptilia	-- --	--	57(a) 55(a)	many → 1 many → 1	1(211930830-211936039) 1(211936497-212030521)
African clawed frog (Xenopus laevis)	Amphibia	Xl.2029²	Xenopus laevis transcribed sequence with weak similarity more	73.51(n)		48021205
zebrafish (Danio rerio)	Actinopterygii	igf2r¹	insulin-like growth factor 2 receptor	58.83(n) 53.64(a)		557061 NM_001039627.2 NP_001034716.1
fruit fly (Drosophila melanogaster)	Insecta	Lerp⁶	lysosomal enzyme receptor protein	23(a)	1 ↔ 1	3R(22668184-22688843)

ENSEMBL Gene Tree for IGF2R (if available)
TreeFam Gene Tree for IGF2R (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs12201330^1,2	C,	--	157859169(+)	`aatctG/Cgctct`	1	--	us2k¹		1	NA	2
rs112731908^1,2		--	157859417(+)	`ACAGTT/CGCGAG`	1	--	us2k¹		2	CSA	3
rs73590504^1,2	C,F,	--	157859464(+)	`TCCACA/TGTTTA`	1	--	us2k¹		4	WA CSA NA	242
rs8191687^1,2	C,F,H,	--	157859756(+)	`CTCAAG/TAAATG`	1	--	us2k¹		12	NS NA WA	1784
rs6941070^1,2	C,F,A,H,	--	157859833(+)	`TCTTTG/AAGTAA`	1	--	us2k¹		6	NS NA WA	908
rs8191688^1,2	C,F,H,	--	157859848(+)	`ctgagT/Aatcct`	1	--	us2k¹		20	NS EA NA WA	2440
rs8191689^1,2	C,H,	--	157859874(+)	`catctA/GtaaGT`	1	--	us2k¹		5	NS EA	594
rs8191690^1,2	F	--	157859936(+)	`GTCTGG/CTATGG`	1	--	us2k¹ tfbs³		1	NS	180
rs8191691^1,2	C,	--	157860049(+)	`TCAAGA/TCTTTT`	1	--	us2k¹		1	NS	176
rs13194588^1,2	C	--	157860571(+)	`CGCTTC/ACTGTC`	1	--	us2k¹ tfbs³		1	NA	2

HapMap Linkage Disequilibrium report for IGF2R (160390131 - 160534539 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 6 variations for IGF2R
5 CNVs: 69637 8530 3648 9552 2661
1 Indel: 64698
Human Gene Mutation Database (HGMD): IGF2R

SABiosciences Cancer Mutation PCR Assays

1 SABiosciences qBiomarker Copy Number PCR Array containing IGF2R:

Oncogenes & Tumor Suppressor Genes 384HC

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IGF2R

DNA2.0 Custom Variant and Variant Library Synthesis for IGF2R

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

IGF2R for disorders           About GeneDecksing

OMIM gene information: 147280    OMIM disorders: --

20/78 diseases for IGF2R (see all 78):    About MalaCards

simpson-golabi-behmel syndrome niemann-pick disease acid sphingomyelinase deficiency beckwith-wiedemann syndrome

type 2 diabetes mellitus glycogen storage disease type 1 diabetes mellitus squamous cell carcinoma

amyotrophic lateral sclerosis islet cell tumor herpes simplex diabetes mellitus

pick's disease laryngeal squamous cell carcinoma polycystic ovary syndrome turcot syndrome

oral squamous cell carcinoma lateral sclerosis lymphoblastic leukemia menkes disease

1 disease from the University of Copenhagen DISEASES database for IGF2R:

Beckwith-Wiedemann syndrome

10/37 Novoseek disease relationships for IGF2R gene (see all 37) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
i-cell disease	74.3	3	2161763 (1), 18559255 (1), 1314098 (1)
microsatellite instability	65.4	7	10855548 (1), 9205049 (1), 10213220 (1), 10398102 (1) (see all 7)
pompe disease	50.3	2	15839836 (2)
allelic loss	43.9	2	9413941 (1)
tumors	39.9	66	9349506 (2), 16452186 (2), 18037232 (2), 15026620 (2) (see all 50)
hepatocellular carcinoma	30.8	12	1337723 (2), 7639583 (2), 12736721 (2), 11981765 (1) (see all 9)
cancer	22.2	22	9157973 (2), 10446221 (2), 19251056 (2), 12857727 (2) (see all 12)
breast cancer	18.3	36	19435860 (4), 15687678 (3), 12149131 (2), 15026620 (2) (see all 13)
colon cancer	18.1	1	10424776 (1)
tumor liver	16.9	1	9652747 (1)

Genetic Association Database (GAD): IGF2R
Human Genome Epidemiology (HuGE) Navigator: IGF2R (38 documents)

Export disorders for IGF2R gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for IGF2R gene, integrated from 9 sources (see all 500):
(articles sorted by number of sources associating them with IGF2R)

Utopia: connect your pdf to the dynamic
world of online information

Genetic variation in the type 2 insulin-like growth factor receptor gene and disparity in childhood height. (PubMed id 16172012)^{1, 4, 9} Petry C.J....Dunger D.B. (2005)
Lack of association of birth size with polymorphisms of two imprinted genes, IGF2R and GRB10. (PubMed id 15506681)^{1, 4, 9} Kukuvitis A....Polychronakos C. (2004)
Internalization of CD26 by mannose 6-phosphate/insulin-like growth factor II receptor contributes to T cell activation. (PubMed id 10900005)^{1, 2, 9} Ikushima H....Morimoto C. (2000)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)
Association of the polycystic ovary syndrome with genomic variants related to insulin resistance, type 2 diabetes mellitus, and obesity. (PubMed id 15181035)^{1, 4} San Millan J.L....Escobar-Morreale H.F. (2004)
The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)^{1, 2} Mungall A.J.... Beck S. (2003)
Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry. (PubMed id 12754519)^{1, 2} Zhang H.... Aebersold R. (2003)
Insulin-like growth factor II receptor gene-167 genotype increases the risk of oral squamous cell carcinoma in humans. (PubMed id 12543777)^{1, 4} Zavras A.I....Diehl S.R. (2003)
Sorting of mannose 6-phosphate receptors mediated by the GGAs. (PubMed id 11387475)^{1, 2} Puertollano R....Bonifacino J.S. (2001)
Genomic structure of the human M6P/IGF2 receptor. (PubMed id 9892739)^{1, 2} Killian J.K. and Jirtle R.L. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3482	HGNC: 5467	AceView: IGF2R	Ensembl:ENSG00000197081	euGenes: HUgn3482
ECgene: IGF2R	Kegg: 3482	H-InvDB: IGF2R

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for IGF2R	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for IGF2R	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/igf2r/

Intellectual Property for IGF2R gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for IGF2R gene:
Search GeneIP for patents involving IGF2R

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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insulin-like growth factor 2 receptor

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IGF2R Gene

insulin-like growth factor 2 receptor

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