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FLASH GENE
Symbol IGF2 contributors: mct/npt/pgu - updated : 22/10/2008
HGNC name insulin-like growth factor 2 (somatomedin A)
HGNC id 5466
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
    Physical map
    TOLLIP 11p15.5 toll interacting protein STK29 11p15.5 serine/threonine kinase 29 HCCA2 11p15.5 HCCA2 protein DUSP8 11p15.5 dual specificity phosphatase 8 LOC387741 11 hypothetical gene supported by AK124823 LOC387742 11 hypothetical gene supported by AK124823 CTSD 11p15.5 cathepsin D (lysosomal aspartyl protease) LOC255701 11p15.5 similar to large subunit ribosomal protein L36a LOC390029 11 similar to A-X actin SYT8 11p15.5 synaptotagmin VIII TNNI2 11p15.5 troponin I, skeletal, fast LSP1 11p15.5 lymphocyte-specific protein 1 TNNT3 11p15.5 troponin T3, skeletal, fast MRPL23 11p15.5 mitochondrial ribosomal protein L23 LOC387743 11 LOC387743 H19 11p15.5 H19, imprinted maternally expressed untranslated mRNA IGF2 11p15.5 insulin-like growth factor 2 (somatomedin A) IGF2AS 11p15.5 insulin-like growth factor 2, antisense INS 11p15.5 insulin TH 11p15.5 tyrosine hydroxylase ASCL2 11p15.5 achaete-scute complex-like 2 (Drosophila) C11orf21 11p15.5 chromosome 11 open reading frame 21 PHEMX 11p15.5 pan-hematopoietic expression CD81 11p15.5 CD81 antigen (target of antiproliferative antibody 1) TSSC4 11p15.5 tumor suppressing subtransferable candidate 4 TRPM5 11p15.5 transient receptor potential cation channel, subfamily M, member 5 KCNQ1 11p15.5 potassium voltage-gated channel, KQT-like subfamily, member 1 CDKN1C 11p15.5 cyclin-dependent kinase inhibitor 1C (p57, Kip2) HSA404617 11p15.5 BWRT protein SLC22A1LS 11p15.5 solute carrier family 22 (organic cation transporter), member 1-like antisense SLC22A1L 11p15.5 solute carrier family 22 (organic cation transporter), member 1-like PHLDA2 11p15.5 pleckstrin homology-like domain, family A, member 2 NAP1L4 11p15.5 nucleosome assembly protein 1-like 4
    regionally located telomeric imprinting domain at 11p15, containing ASCL2, H19 and IGF2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 splicing 5139 - 180 paternally expressed, not limited to placenta 2008 18287964
    - splicing 2864 - 200 highly restricted tissue expression profiles including the pancreas 2008 18287964
    use the INS promoter
    - splicing 828 - 200 highly restricted tissue expression profiles including the pancreas 2008 18287964
    5 - 5165 - 180 - 2008 18287964
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Endocrineadrenal gland    
    Reproductivefemale systemplacenta   
     female systembreastmammary gland  
     male systemprostate   
    Respiratoryrespiratory tractlarynx   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestivehepatocyte
    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
  • 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)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
    SystemTypeDisorderPubmed
    osteoarticularboneostéoporosis
    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-/-