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Aliases for IGF2 Gene

Aliases for IGF2 Gene

  • Insulin Like Growth Factor 2 2 3 5
  • T3M-11-Derived Growth Factor 3 4
  • Preptin 2 3
  • IGF-II 3 4
  • Insulin-Like Growth Factor 2 (Somatomedin A) 3
  • Chromosome 11 Open Reading Frame 43 2
  • Insulin-Like Growth Factor Type 2 3
  • Insulin-Like Growth Factor II 3
  • Insulin-Like Growth Factor 2 2
  • Somatomedin A 2
  • Somatomedin-A 4
  • C11orf43 3
  • PP9974 3
  • GRDF 3

External Ids for IGF2 Gene

Previous HGNC Symbols for IGF2 Gene

  • C11orf43

Previous GeneCards Identifiers for IGF2 Gene

  • GC11P000574
  • GC11M002241
  • GC11M002112
  • GC11M002118
  • GC11M002110
  • GC11M002113
  • GC11M001942
  • GC11M002152

Summaries for IGF2 Gene

Entrez Gene Summary for IGF2 Gene

  • This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5' region overlaps the INS gene and the 3' region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

GeneCards Summary for IGF2 Gene

IGF2 (Insulin Like Growth Factor 2) is a Protein Coding gene. Diseases associated with IGF2 include Growth Restriction, Severe, With Distinctive Facies and Hemihyperplasia, Isolated. Among its related pathways are IL-2 Pathway and Activation of cAMP-Dependent PKA. GO annotations related to this gene include growth factor activity and insulin receptor binding. An important paralog of this gene is IGF1.

UniProtKB/Swiss-Prot for IGF2 Gene

  • The insulin-like growth factors possess growth-promoting activity. In vitro, they are potent mitogens for cultured cells. IGF-II is influenced by placental lactogen and may play a role in fetal development.

  • Preptin undergoes glucose-mediated co-secretion with insulin, and acts as physiological amplifier of glucose-mediated insulin secretion. Exhibits osteogenic properties by increasing osteoblast mitogenic activity through phosphoactivation of MAPK1 and MAPK3.

Gene Wiki entry for IGF2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IGF2 Gene

Genomics for IGF2 Gene

Regulatory Elements for IGF2 Gene

Enhancers for IGF2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F002178 1.3 FANTOM5 Ensembl ENCODE 16.8 -29.2 -29238 1.4 ZFHX2 PKNOX1 MNT FOS TCF7L2 EGR2 IGF2 TH IGF2-AS MIR483 ENSG00000236710 ASCL2 SYT8 MIR4686 GC11M002206
GH11F002177 0.3 FANTOM5 13.1 -27.8 -27761 0.1 KLF1 TH IGF2 IGF2-AS MIR483 ASCL2 MIR4686 GC11M002206
GH11F002180 0.5 ENCODE 12.6 -31.4 -31383 0.2 ZNF341 DPF2 IGF2 TRPM5 ENSG00000199550 CD81 MIR4686 GC11M002206
GH11F002108 0.9 Ensembl ENCODE 12.5 +40.1 40149 1.5 CTCF ELF3 TFAP4 SAP130 ZFP64 MAX RAD21 ZNF48 TEAD3 GLIS2 MIR483 IGF2-AS IGF2 TNNT3 TH ENSG00000240801 GC11P002077
GH11F002102 0.4 Ensembl 12.5 +46.6 46603 0.4 ELF3 MLX ARID4B ZNF48 ZSCAN9 RAD21 RARA MIXL1 THAP11 MXD4 MIR483 IGF2-AS IGF2 ENSG00000240801 KRTAP5-6 FAM99B LOC100505570 GC11P002077
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around IGF2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the IGF2 gene promoter:

Genomic Location for IGF2 Gene

Chromosome:
11
Start:
2,129,112 bp from pter
End:
2,149,603 bp from pter
Size:
20,492 bases
Orientation:
Minus strand

Genomic View for IGF2 Gene

Genes around IGF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IGF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IGF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IGF2 Gene

Proteins for IGF2 Gene

  • Protein details for IGF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01344-IGF2_HUMAN
    Recommended name:
    Insulin-like growth factor II
    Protein Accession:
    P01344
    Secondary Accessions:
    • B3KX48
    • B7WP08
    • C9JAF2
    • E3UN45
    • P78449
    • Q14299
    • Q1WM26
    • Q9UC68
    • Q9UC69

    Protein attributes for IGF2 Gene

    Size:
    180 amino acids
    Molecular mass:
    20140 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for IGF2 Gene

    Alternative splice isoforms for IGF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IGF2 Gene

Post-translational modifications for IGF2 Gene

  • O-glycosylated with core 1 or possibly core 8 glycans. Thr-96 is a minor glycosylation site compared to Thr-99.
  • Proteolytically processed by PCSK4, proIGF2 is cleaved at Arg-128 and Arg-92 to generate big-IGF2 and mature IGF2.
  • Glycosylation at Thr 96, Thr 99, and Thr 163
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for IGF2 Gene

Domains & Families for IGF2 Gene

Graphical View of Domain Structure for InterPro Entry

P01344

UniProtKB/Swiss-Prot:

IGF2_HUMAN :
  • Belongs to the insulin family.
Family:
  • Belongs to the insulin family.
genes like me logo Genes that share domains with IGF2: view

No data available for Gene Families for IGF2 Gene

Function for IGF2 Gene

Molecular function for IGF2 Gene

GENATLAS Biochemistry:
insulin-like growth factor 220kDa,regulator of somatic growth and cellular proliferation,maternally imprinted (telomeric imprinting domain at 11p15,containing ASCL2,H19 and IGF2,silenced and hypermethylated in most Wilms tumor),since the preimplantation 8-cells stage embryos,onwards;biallelic expression and loss of imprinting in fetal brain,in Wilms tumor,Beckwith-Wiedemann syndrome,other tumors and acute myeloid leukemia
UniProtKB/Swiss-Prot Function:
The insulin-like growth factors possess growth-promoting activity. In vitro, they are potent mitogens for cultured cells. IGF-II is influenced by placental lactogen and may play a role in fetal development.
UniProtKB/Swiss-Prot Function:
Preptin undergoes glucose-mediated co-secretion with insulin, and acts as physiological amplifier of glucose-mediated insulin secretion. Exhibits osteogenic properties by increasing osteoblast mitogenic activity through phosphoactivation of MAPK1 and MAPK3.

LifeMap Function Summary for IGF2 Gene

IGF2 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:

Gene Ontology (GO) - Molecular Function for IGF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005158 insulin receptor binding IPI 12138094
GO:0005159 insulin-like growth factor receptor binding IMP,TAS 2967174
GO:0005179 hormone activity IEA --
GO:0005515 protein binding IPI 10611375
GO:0008083 growth factor activity IEA,IDA 11500939
genes like me logo Genes that share ontologies with IGF2: view
genes like me logo Genes that share phenotypes with IGF2: view

Human Phenotype Ontology for IGF2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IGF2 Gene

MGI Knock Outs for IGF2:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for IGF2 Gene

Localization for IGF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IGF2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IGF2 Gene COMPARTMENTS Subcellular localization image for IGF2 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytoskeleton 3
nucleus 3
cytosol 2
lysosome 2
mitochondrion 2
vacuole 2
endoplasmic reticulum 1
endosome 1
golgi apparatus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for IGF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005615 extracellular space IEA --
GO:0005886 plasma membrane TAS --
GO:0031093 platelet alpha granule lumen TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with IGF2: view

Pathways & Interactions for IGF2 Gene

genes like me logo Genes that share pathways with IGF2: view

SIGNOR curated interactions for IGF2 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for IGF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 8298652
GO:0001503 ossification IEA --
GO:0001934 positive regulation of protein phosphorylation ISS --
GO:0002576 platelet degranulation TAS --
GO:0005975 carbohydrate metabolic process IEA --
genes like me logo Genes that share ontologies with IGF2: view

Drugs & Compounds for IGF2 Gene

(78) Drugs for IGF2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(56) Additional Compounds for IGF2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with IGF2: view

Transcripts for IGF2 Gene

Unigene Clusters for IGF2 Gene

Insulin-like growth factor 2 (somatomedin A):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for IGF2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c
SP1: - - - -
SP2: -
SP3: -
SP4: - -

Relevant External Links for IGF2 Gene

GeneLoc Exon Structure for
IGF2
ECgene alternative splicing isoforms for
IGF2

Expression for IGF2 Gene

mRNA expression in normal human tissues for IGF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for IGF2 Gene

This gene is overexpressed in Amniocyte (28.1), Plasma (8.1), and Cerebrospinal fluid (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for IGF2 Gene



NURSA nuclear receptor signaling pathways regulating expression of IGF2 Gene:

IGF2

SOURCE GeneReport for Unigene cluster for IGF2 Gene:

Hs.272259
genes like me logo Genes that share expression patterns with IGF2: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for IGF2 Gene

Orthologs for IGF2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IGF2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia IGF2 34 35
  • 91.16 (n)
cow
(Bos Taurus)
Mammalia IGF2 34 35
  • 86.52 (n)
mouse
(Mus musculus)
Mammalia Igf2 34 16 35
  • 86.02 (n)
rat
(Rattus norvegicus)
Mammalia Igf2 34
  • 85.84 (n)
chimpanzee
(Pan troglodytes)
Mammalia IGF2 34 35
  • 85.67 (n)
chicken
(Gallus gallus)
Aves IGF2 34 35
  • 64.86 (n)
lizard
(Anolis carolinensis)
Reptilia IGF2 35
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia igf2 34
  • 61.18 (n)
Str.10551 34
zebrafish
(Danio rerio)
Actinopterygii igf2b 34 35
  • 59.57 (n)
igf2a 35
  • 39 (a)
OneToMany
Dr.9288 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11849 34
Species where no ortholog for IGF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 IGF2 Gene

ENSEMBL:
Gene Tree for IGF2 (if available)
TreeFam:
Gene Tree for IGF2 (if available)

Paralogs for IGF2 Gene

Paralogs for IGF2 Gene

(2) SIMAP similar genes for IGF2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with IGF2: view

Variants for IGF2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for IGF2 Gene

IGF2_HUMAN-P01344
Genetic variations in IGF2 are associated with body mass index (BMI). The BMI is a statistical measurement which compares a persons weight and height.

Sequence variations from dbSNP and Humsavar for IGF2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs869320620 Pathogenic 2,135,501(-) GAAGT(A/C)GATGC nc-transcript-variant, upstream-variant-2KB, reference, stop-gained
rs758689893 Uncertain significance 2,140,215(+) TACCC(C/T)GTCCT intron-variant, upstream-variant-2KB, reference, missense
rs1003482 -- 2,145,173(+) GCCTT(C/T)TGCAG intron-variant
rs1003483 -- 2,146,313(+) CTCCT(G/T)TCTCC intron-variant, nc-transcript-variant, downstream-variant-500B
rs1003484 -- 2,146,388(+) CGCTC(A/G)CTCCC intron-variant, nc-transcript-variant, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for IGF2 Gene

Variant ID Type Subtype PubMed ID
dgv551e59 CNV duplication 20981092
esv2673506 CNV deletion 23128226
nsv1070426 CNV deletion 25765185
nsv1118203 CNV deletion 24896259
nsv467645 CNV gain 19166990
nsv553047 CNV gain 21841781
nsv553068 CNV loss 21841781
nsv553069 CNV loss 21841781
nsv825707 CNV gain 20364138
nsv951284 CNV deletion 24416366

Variation tolerance for IGF2 Gene

Residual Variation Intolerance Score: 34.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.27; 52.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IGF2 Gene

Human Gene Mutation Database (HGMD)
IGF2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IGF2

Disorders for IGF2 Gene

MalaCards: The human disease database

(90) MalaCards diseases for IGF2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

IGF2_HUMAN
  • Growth restriction, severe, with distinctive facies (GRDF) [MIM:616489]: A disease characterized by severe prenatal and postnatal growth restriction, facial dysmorphism, and short stature in the presence of normal or slightly elevated growth hormone levels. {ECO:0000269 PubMed:26154720}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Silver-Russell syndrome (SRS) [MIM:180860]: A clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. {ECO:0000269 PubMed:19066168}. Note=The gene represented in this entry is involved in disease pathogenesis. Most of the cases of Silver-Russell syndrome are caused by the epigenetic changes of DNA hypomethylation at the telomeric imprinting control region (ICR1) on chromosome 11p15, involving the H19 and IGF2 genes.

Genatlas disease for IGF2 Gene

hypoglycemia,tumor induced,putative susceptibility factor for obesity in association with INS in British population

Relevant External Links for IGF2

Genetic Association Database (GAD)
IGF2
Human Genome Epidemiology (HuGE) Navigator
IGF2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IGF2
genes like me logo Genes that share disorders with IGF2: view

Publications for IGF2 Gene

  1. Parent-of-origin specific linkage and association of the IGF2 gene region with birth weight and adult metabolic risk factors. (PMID: 19546867) Souren N.Y. … Zeegers M.P. (Int J Obes (Lond) 2009) 3 22 46 64
  2. [Combined analyses of paraoxonase-1 and IGF-2 polymorphism in polycystic ovary syndrome]. (PMID: 19421925) Knebel B. … Kotzka J. (Dtsch. Med. Wochenschr. 2009) 3 22 46 64
  3. IGF-II gene region polymorphisms related to exertional muscle damage. (PMID: 17289909) Devaney J.M. … Clarkson P.M. (J. Appl. Physiol. 2007) 3 22 46 64
  4. Anorexia nervosa, perfectionism, and dopamine D4 receptor (DRD4). (PMID: 17440932) Bachner-Melman R. … Ebstein R.P. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007) 3 22 46 64
  5. Insulin-like growth factor 2 (IGF2) and IGF2 receptor gene variants are associated with fetal growth. (PMID: 17407457) Kaku K. … Sekiya S. (Acta Paediatr. 2007) 3 22 46 64

Products for IGF2 Gene

Sources for IGF2 Gene

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