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FLASH GENE

Symbol

IGF2R

contributors: shn/npt/pgu - updated : 02-02-2016

HGNC name	insulin-like growth factor 2 receptor
HGNC id	5467

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	6q25.3      Physical location : 160.390.130 - 160.527.581
Synonym name	cation-independent mannose-6-phosphate receptor
	300 kDa mannose 6-phosphate receptor
	M6P/IGF2 receptor
	Mannose-6-phosphate
	CD222 antigen
	insulin-like growth factor-2 receptor (mannose-6-phosphate receptor, cation-independent)
	CI Man-6-P receptor
Synonym symbol(s)	M6P, MPR2, CD222, CIMPR, MPRI, MPR1, M6P-R, M6P/IGF2R

DNA

TYPE	functioning gene
STRUCTURE	137.45 kb     48 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	cytosine-phosphate-guanine/HTF
	Binding site
motif	repetitive sequence
text structure	promoter-restricted enrichment of DMH (differentially methylated histone) rather than CpG methylation in the DMR or the presence of an antisense transcript, correctly identifies the imprinting status
	NFIL3 binds directly to the IGF2R promoter region and repress IGF2R gene promoter activity

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D6S1035 - D6S1581 - IGF2R - D6S1579 - D6S1550 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000876 48 - 9093 NP_000867 274.3 2491 - 1999 9892739 a 40 aa signal peptide of 4.1 kda a 2451 aa mature peptide of 270.2 kda

EXPRESSION

Type

widely

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine       moderately   pancreas exocrine       moderately Endocrine thyroid       highly Lymphoid/Immune lymph node       highly   spleen       highly Nervous nerve       moderately Reproductive female system breast mammary gland   moderately   male system prostate     moderately Respiratory lung       moderately Urinary kidney       highly Visual eye       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     predominantly Connective bone     moderately Muscular       highly

cell lineage
cell lines
fluid/secretion	moderately in blood

at STAGE

physiological period

fetal

Text

pancreas

IMPRINTING	maternally
text	imprinting status depends on parental allele-specific histone modification rather than DNA methylation or antisense transcription

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a 40 aa signal peptide of 4.1 kda
	an extracytoplasmic domain consisting of 15 homologous repeat sequences
	a fibronectin type 2 domain
	a unique transmembrane segment (TM1)
	a cytoplasmic tail

conjugated

GlycoP , PhosphoP

isoforms

Precursor

a 2451 aa mature peptide of 270.2 kda

HOMOLOGY

interspecies	ortholog to IGF2R, Pan troglodytes
	ortholog to igf2r, Danio rerio
	ortholog to Igf2r, Mus musculus
	ortholog to Igf2r, Rattus norvegicus

Homologene

FAMILY

MRL1/IGF2R family

CATEGORY

tumor suppressor , signaling cytokine growth factor , receptor membrane , transport

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome
	intracellular,nuclear envelope,lumen
text	single-pass type I membrane protein
	integral to plasma membrane
	lysosomal membrane
	trans-Golgi network transport vesicle

basic FUNCTION	crucial for regulating normal fetal growth, circulating levels of IGF2, and heart development
	may function as a tumor suppressor gene in the liver
	insulin-like growth factor 2, targeting IGF2 to the lysosomes for degradation
	non mitogenic receptor tyrosine kinase, class II
	mannose 6-phosphate receptor, cation independent
	involved in the transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes
	acting as an insulin-like growth factor 2 (IGF2) and mannose 6-phosphate (M6P) receptor
	playing an important role as a tumor suppressor
	playing a role in fetal growth
	regulates endocytic uptake and bioavailability of IGF2 at the cell surface for signalling by IGF1R, and it mediates intracellular sorting of lysosomal enzymes
	regulates destruction of lipid-linked oligosaccharides
	cation-independent mannose 6-phosphate/insulin-like growth factor 2 receptor, that is the central component of endosomal transport pathways
	is a key regulator of the early T cell signaling cascade

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cellular trafficking transport

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

RNA

small molecule

protein	retinoic acid binding
	binding mannose 6-phosphate IGFII receptor, cation independent
	GGA1, GGA2 and GGA3
	cellular repressor of E1A-stimulated genes 1 (GREG)
	plasminogen activator, urokinase receptor (PLAUR)
	Tail-interacting 47-kDa protein (TIP47)
	USF2 function may contribute to down-regulation of IGF2R expression in cancer cells
	specifically controls the balance between active and inactive LCK in resting T cells, which guarantees operative T cell effector functions

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   LOH     in hepatocellular carcinoma tumoral somatic mutation       in endometrial hyperplasia and other cancers (alteration of ligand binding) tumoral   LOH     in malignant adrenocortical tumor

Susceptibility

oral squamous cell carcinoma

Variant & Polymorphism SNP	variants are associated with fetal growth

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Murine embryos that inherit a nonfunctional Igf2r gene from their fathers are normal whereas mice inherit the same mutated allele from their mothers die due to a major cardiac abnormalities