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IGF2 insulin like growth factor 2 [ Homo sapiens (human) ]

Gene ID: 3481, updated on 16-Sep-2018

Summary

Official Symbol
IGF2provided by HGNC
Official Full Name
insulin like growth factor 2provided by HGNC
Primary source
HGNC:HGNC:5466
See related
Ensembl:ENSG00000167244 MIM:147470; Vega:OTTHUMG00000009395
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GRDF; IGF-II; PP9974; C11orf43
Summary
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]
Expression
Biased expression in placenta (RPKM 1052.5) and liver (RPKM 86.0) See more
Orthologs

Genomic context

See IGF2 in Genome Data Viewer
Location:
11p15.5
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (2129112..2149603, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2150346..2179611, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L23 Neighboring gene H19/IGF2 imprinting control region Neighboring gene microRNA 675 Neighboring gene H19, imprinted maternally expressed transcript Neighboring gene INS-IGF2 readthrough Neighboring gene microRNA 483 Neighboring gene IGF2 antisense RNA Neighboring gene insulin repeat instability region Neighboring gene insulin

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-03-22)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-03-22)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.
NHGRI GWA Catalog
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
NHGRI GWA Catalog
Bivariate genome-wide association analyses identified genes with pleiotropic effects for femoral neck bone geometry and age at menarche.
NHGRI GWA Catalog
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
NHGRI GWA Catalog
GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
NHGRI GWA Catalog
Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.
NHGRI GWA Catalog
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
NHGRI GWA Catalog

Pathways from BioSystems

  • Apoptosis, organism-specific biosystem (from WikiPathways)
    Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
  • Cardiac Progenitor Differentiation, organism-specific biosystem (from WikiPathways)
    Cardiac Progenitor Differentiation, organism-specific biosystemFactors involved in the induction of cardiac differentiation in vitro and in vivo. This model was based on the below two review articles.
  • Endochondral Ossification, organism-specific biosystem (from WikiPathways)
    Endochondral Ossification, organism-specific biosystemEndochondral ossification is the process by which the embryonic cartilaginous model of most bones contributes to longitudinal growth and is gradually replaced by bone. During endochondral ossificatio...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • IGF1R signaling cascade, organism-specific biosystem (from REACTOME)
    IGF1R signaling cascade, organism-specific biosystemAfter autophosphorylation the type 1 insulin-like growth factor receptor (IGF1R) binds and phosphorylates scaffold proteins, IRS1/2/4 and SHC1, which in turn bind effectors possessing enzymatic activ...
  • IRS-related events triggered by IGF1R, organism-specific biosystem (from REACTOME)
    IRS-related events triggered by IGF1R, organism-specific biosystemThe phosphorylated type 1 insulin-like growth factor receptor phosphorylates IR1, IRS2, IRS4 and possibly other IRS/DOK family members (reviewed in Pavelic et al. 2007, Chitnis et al. 2008, Maki et a...
  • MECP2 and Associated Rett Syndrome, organism-specific biosystem (from WikiPathways)
    MECP2 and Associated Rett Syndrome, organism-specific biosystemMecp2 is in many mammals an important regulator of neuronal function and development. It affects all cell types, especially neurons but also astrocytes, oligodendrocytes, and glial cells. Mecp2 plays...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
  • Platelet degranulation, organism-specific biosystem (from REACTOME)
    Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
  • Proteoglycans in cancer, organism-specific biosystem (from KEGG)
    Proteoglycans in cancer, organism-specific biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
  • Proteoglycans in cancer, conserved biosystem (from KEGG)
    Proteoglycans in cancer, conserved biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
  • Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), organism-specific biosystem (from REACTOME)
    Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), organism-specific biosystemThe family of Insulin like Growth Factor Binding Proteins (IGFBPs) share 50% amino acid identity with conserved N terminal and C terminal regions responsible for binding Insulin like Growth Factors I...
  • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
    Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
  • SHC-related events triggered by IGF1R, organism-specific biosystem (from REACTOME)
    SHC-related events triggered by IGF1R, organism-specific biosystemPhosphorylated IGF1R binds and phosphorylates SHC1 (reviewed in Pavelic et al. 2007, Chitnis et al. 2008, Maki et al. 2010, Parrella et al. 2010, Siddle et al. 2012). Phosphorylated SHC then binds GR...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystem (from REACTOME)
    Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystemBinding of IGF1 (IGF-I) or IGF2 (IGF-II) to the extracellular alpha peptides of the type 1 insulin-like growth factor receptor (IGF1R) triggers the activation of two major signaling pathways: the SOS...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough INS-IGF2

Readthrough gene: INS-IGF2, Included gene: INS

Homology

Clone Names

  • FLJ22066, FLJ44734

Gene Ontology Provided by GOA

Function Evidence Code Pubs
growth factor activity IDA
Inferred from Direct Assay
more info
PubMed 
hormone activity IEA
Inferred from Electronic Annotation
more info
 
insulin receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
insulin-like growth factor receptor binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
integrin binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine kinase activator activity ISS
Inferred from Sequence or Structural Similarity
more info
 
receptor ligand activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
animal organ morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
embryonic placenta development ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic placenta morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
exocrine pancreas development IEA
Inferred from Electronic Annotation
more info
 
glucose metabolic process IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development ISS
Inferred from Sequence or Structural Similarity
more info
 
insulin receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
insulin receptor signaling pathway via phosphatidylinositol 3-kinase ISS
Inferred from Sequence or Structural Similarity
more info
 
multicellular organism development TAS
Traceable Author Statement
more info
PubMed 
negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
platelet degranulation TAS
Traceable Author Statement
more info
 
positive regulation of MAPK cascade IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of activated T cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of catalytic activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell division IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell proliferation IC
Inferred by Curator
more info
PubMed 
positive regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of glycogen (starch) synthase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of glycogen biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of insulin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of mitotic nuclear division IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
positive regulation of peptidyl-tyrosine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein kinase B signaling IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
regulation of gene expression by genetic imprinting TAS
Traceable Author Statement
more info
PubMed 
regulation of histone modification ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of muscle cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
skeletal system development TAS
Traceable Author Statement
more info
PubMed 
striated muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
platelet alpha granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
insulin-like growth factor II
Names
T3M-11-derived growth factor
insulin-like growth factor 2 (somatomedin A)
insulin-like growth factor type 2
preptin

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008849.1 RefSeqGene

    Range
    5001..25492
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000612.5NP_000603.1  insulin-like growth factor II isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_000603.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the most predominant transcript. Variants 1, 2, 4 and 5 encode the same isoform (1).
    Source sequence(s)
    AC132217, AK025719, BC053318, BC073756, BQ014465, M17426
    Consensus CDS
    CCDS7728.1
    UniProtKB/Swiss-Prot
    P01344
    Related
    ENSP00000414497.2, OTTHUMP00000011012, ENST00000416167.6, OTTHUMT00000026053
    Conserved Domains (2) summary
    cd04368
    Location:2891
    IlGF; IlGF, insulin_like growth factors; specific to vertebrates. Members include a number of peptides including insulin-like growth factors I and II, which play a variety of roles in controlling processes such as growth, differentiation, and reproduction. On ...
    pfam08365
    Location:112166
    IGF2_C; Insulin-like growth factor II E-peptide
  2. NM_001007139.5NP_001007140.2  insulin-like growth factor II isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_001007140.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains two alternate 5' non-coding exons, therefore, has a different 5' UTR compared to variant 1. Variants 1, 2, 4 and 5 encode the same isoform (1).
    Source sequence(s)
    AC132217, AK025719, BC073756, BQ014465, DQ104203, X00910
    Consensus CDS
    CCDS7728.1
    UniProtKB/Swiss-Prot
    P01344
    Related
    ENSP00000493122.1, ENST00000641326.2
    Conserved Domains (2) summary
    cd04368
    Location:2891
    IlGF; IlGF, insulin_like growth factors; specific to vertebrates. Members include a number of peptides including insulin-like growth factors I and II, which play a variety of roles in controlling processes such as growth, differentiation, and reproduction. On ...
    pfam08365
    Location:112166
    IGF2_C; Insulin-like growth factor II E-peptide
  3. NM_001127598.2NP_001121070.1  insulin-like growth factor II isoform 2

    See identical proteins and their annotated locations for NP_001121070.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains two alternate exons at the 5' end, one non-coding and another coding, compared to variant 1. This results in the use of an upstream AUG (not found in variants 1 and 2) and a longer isoform (2) with a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC132217, AK025719, BC073756, BE270173, BP233290, BQ014465
    Consensus CDS
    CCDS44517.1
    UniProtKB/Swiss-Prot
    P01344
    Related
    ENSP00000391826.2, OTTHUMP00000011158, ENST00000434045.6, OTTHUMT00000026060
    Conserved Domains (3) summary
    cd04368
    Location:84147
    IlGF; IlGF, insulin_like growth factors; specific to vertebrates. Members include a number of peptides including insulin-like growth factors I and II, which play a variety of roles in controlling processes such as growth, differentiation, and reproduction. On ...
    pfam08365
    Location:168222
    IGF2_C; Insulin-like growth factor II E-peptide
    cl00015
    Location:451
    nt_trans; nucleotidyl transferase superfamily
  4. NM_001291861.2NP_001278790.1  insulin-like growth factor II isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_001278790.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR exon, compared to variant 1. Variants 1, 2, 4 and 5 encode the same isoform (1).
    Source sequence(s)
    AC132217, AK313938, BC000531, BQ014465
    Consensus CDS
    CCDS7728.1
    UniProtKB/Swiss-Prot
    P01344
    Related
    ENSP00000402047.2, OTTHUMP00000011015, ENST00000418738.2, OTTHUMT00000026056
    Conserved Domains (2) summary
    cd04368
    Location:2891
    IlGF; IlGF, insulin_like growth factors; specific to vertebrates. Members include a number of peptides including insulin-like growth factors I and II, which play a variety of roles in controlling processes such as growth, differentiation, and reproduction. On ...
    pfam08365
    Location:112166
    IGF2_C; Insulin-like growth factor II E-peptide
  5. NM_001291862.2NP_001278791.1  insulin-like growth factor II isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_001278791.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR exon, compared to variant 1. Variants 1, 2, 4 and 5 encode the same isoform (1).
    Source sequence(s)
    AC132217, BQ014465, CN277570, HM481220, S77035
    Consensus CDS
    CCDS7728.1
    UniProtKB/Swiss-Prot
    P01344
    UniProtKB/TrEMBL
    E3UN46
    Related
    ENSP00000370796.1, OTTHUMP00000011157, ENST00000381389.5, OTTHUMT00000026386
    Conserved Domains (2) summary
    cd04368
    Location:2891
    IlGF; IlGF, insulin_like growth factors; specific to vertebrates. Members include a number of peptides including insulin-like growth factors I and II, which play a variety of roles in controlling processes such as growth, differentiation, and reproduction. On ...
    pfam08365
    Location:112166
    IGF2_C; Insulin-like growth factor II E-peptide

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    2129112..2149603 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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