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FLASH GENE

Symbol

IGF2

contributors: mct/npt/pgu - updated : 27-04-2021

HGNC name	insulin-like growth factor 2 (somatomedin A)
HGNC id	5466

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BWS Beckwith-Wiedemann syndrome IH isolated body asymmetry SRS11 Silver-Russell syndrome, chromosome 11 related
Location	11p15.5      Physical location : 2.150.347 - 2.170.833
Synonym name	chromosome 11 open reading frame 43
	somatomedin-A
Synonym symbol(s)	FLJ44734, INSIGF, C11orf43, FLJ22066, IGF-II, pp9974

DNA

TYPE	like-sequence
STRUCTURE	20.50 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	promoter proximal sequence (DMR0)

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	see INS ,PTH PTH

regionally located

telomeric imprinting domain at 11p15, containing ASCL2, H19 and IGF2

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed IGF2-P0, or variant 2 5 splicing 5139 - 180 paternally expressed, not limited to placenta 2008 18287964 INSIGF l - splicing 2864 - 200 highly restricted tissue expression profiles including the pancreas 2008 18287964 use the INS promoter INSIGF s - splicing 828 - 200 highly restricted tissue expression profiles including the pancreas 2008 18287964 IGF2, or variant 1 5 - 5165 - 180 - 2008 18287964

EXPRESSION

Type	restricted

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 liver         Endocrine adrenal gland         Reproductive female system placenta         female system breast mammary gland       male system prostate       Respiratory respiratory tract larynx

cells

System Cell Pubmed Species Stage Rna symbol Digestive hepatocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal, pregnancy

Text	placenta, widely in embryo

IMPRINTING	maternally
text	telomeric imprinting domain at 11p15, containing ASCL2, H19 and IGF2, since the preimplantation 8 cells stage embryos

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

protein homolog to INS retaining the C peptide and having an extended C terminus

HOMOLOGY

Homologene

FAMILY

insulin family

CATEGORY

signaling hormone

SUBCELLULAR LOCALIZATION

extracellular

basic FUNCTION	potent mitogen influenced by placental lactogen and may be playing a role in fetal development
	involved in the pathogenesis of psoriasis as a paracrine inducer of 12-lipoxygenase
	having the ability to strongly stimulate osteoclastogenesis by regulating PPBP expression in stromal cells and CXCL12 expression in osteoblastic cells
	AKT1 and insulin-like growth factor 2 (IGF2) regulate placentation and fetal/postnatal development (r
	differential expression of PHLDA2 and IGF2 may be one of the causes of selective intrauterine growth restriction

CELLULAR PROCESS	cell life, proliferation/growth

PHYSIOLOGICAL PROCESS

development

text	regulation, prenatal skeletal and muscular development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	GDF2 crosstalks with IGF2 through PI3K/AKT signaling pathway during osteogenic differentiation of MSCs
	concomitant MYOD1 and IGF2 inactivation accelerates differentiation of a brown preadipocyte cell line and induces lipid accumulation and increased UCP1 and PRDM16 expression

cell & other

REGULATION

induced by

GH

Other

imprinted expression is controlled by the imprinting control region 1 (ICR1)

ASSOCIATED DISORDERS

corresponding disease(s)

BWS , SRS11 , IH

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   LOI     biallelic expression in fetal brain, in Wilms tumor in colorectal cancer tumoral     --over   in non islet tumor hypoglycemia in overgrowth syndrome constitutional     --other   highly expressed in both proliferating and involuting phase hemangioma, without loss of imprinting, but is not detectable in other vascular lesions such as pyogenic granuloma, venous malformation, lymphatic malformation, or in normal infant skin tumoral     --over   Duplication of the paternal IGF2 allele in trisomy 11 and elevated expression levels of IGF2 mRNA in congenital mesoblastic nephroma of the cellular or mixed type. tumoral   LOI     leading to abnormal activation of the normally silent maternal allele, and associated with a 5-fold increased frequency of colorectal neoplasia tumoral   LOI     in laryngeal squamous cell carcinoma tumoral imprinting       gain of imprinting in hepatocellular carcinoma tumoral       loss of function by hypomethylation (is highly prevalent in cancer and is an acquired somatic epimutation and therefore a useful indicator of breast and colorectal cancer) constitutional       loss of function concomitant of MYOD1 and IGF2 accelerates differentiation of a brown preadipocyte cell line and induces lipid accumulation and increased UCP1 and PRDM16 expression

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed osteoarticular bone ostéoporosis combination of GDF2 and IGF2 may be explored as an effective bone-regeneration agent to treat large segmental bony defects, nonunion fracture, and/or osteoporotic fracture

ANIMAL & CELL MODELS

small placenta in mice knock-out Igf2-/-