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

    Gene ID: 3481, updated on 31-Mar-2024

    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; AllianceGenome:HGNC:5466
    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; SRS3; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See IGF2 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (2129117..2149566, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (2216758..2237216, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2150347..2170796, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L23 Neighboring gene H19/IGF2 enhancer region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2018584-2019431 Neighboring gene long intergenic non-protein coding RNA 1219 Neighboring gene H19/IGF2 imprinting control region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2034666-2035394 Neighboring gene microRNA 675 Neighboring gene H19 imprinted maternally expressed transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2118490-2119132 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2121061-2121703 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2121704-2122345 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:2135598-2135868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2148496-2149320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2155593-2156179 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2158413-2159034 Neighboring gene INS-IGF2 readthrough Neighboring gene microRNA 483 Neighboring gene IGF2 antisense RNA Neighboring gene insulin repeat instability region Neighboring gene insulin Neighboring gene tyrosine hydroxylase

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What'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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough INS-IGF2

    Readthrough gene: INS-IGF2, Included gene: INS

    Clone Names

    • FLJ22066, FLJ44734

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables growth factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables growth factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables hormone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables insulin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables insulin-like growth factor receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables insulin-like growth factor receptor binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables integrin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein serine/threonine kinase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein serine/threonine kinase activator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables receptor ligand activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables transmembrane receptor protein tyrosine kinase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in animal organ morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic placenta development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic placenta morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in exocrine pancreas development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in genomic imprinting TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in glucose metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in in utero embryonic development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in insulin receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in insulin-like growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of MAPK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of activated T cell proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of activated T cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell population proliferation IC
    Inferred by Curator
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of positive regulation of glycogen biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of insulin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of insulin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of mitotic nuclear division IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of organ growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of skeletal muscle tissue growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of vascular endothelial cell proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of muscle cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in striated muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in 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)

    NEW Try the new Transcript table

    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
      5038..25487
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1031

    mRNA and Protein(s)

    1. NM_000612.6NP_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
      B3KX48, B7WP08, C9JAF2, E3UN45, P01344, P78449, Q14299, Q1WM26, Q9UC68, Q9UC69
      UniProtKB/TrEMBL
      A8K6C9
      Related
      ENSP00000414497.2, ENST00000416167.7
      Conserved Domains (2) summary
      cd04368
      Location:2891
      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 a ...
      pfam08365
      Location:112166
      IGF2_C; Insulin-like growth factor II E-peptide
    2. NM_001007139.6NP_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
      Consensus CDS
      CCDS7728.1
      UniProtKB/Swiss-Prot
      B3KX48, B7WP08, C9JAF2, E3UN45, P01344, P78449, Q14299, Q1WM26, Q9UC68, Q9UC69
      UniProtKB/TrEMBL
      A8K6C9
      Related
      ENSP00000511997.1, ENST00000695541.1
      Conserved Domains (2) summary
      cd04368
      Location:2891
      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 a ...
      pfam08365
      Location:112166
      IGF2_C; Insulin-like growth factor II E-peptide
    3. NM_001127598.3NP_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, ENST00000434045.6
      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_001291861.3NP_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
      B3KX48, B7WP08, C9JAF2, E3UN45, P01344, P78449, Q14299, Q1WM26, Q9UC68, Q9UC69
      UniProtKB/TrEMBL
      A8K6C9
      Related
      ENSP00000402047.2, ENST00000418738.2
      Conserved Domains (2) summary
      cd04368
      Location:2891
      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 a ...
      pfam08365
      Location:112166
      IGF2_C; Insulin-like growth factor II E-peptide
    5. NM_001291862.3NP_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, HM481220, S77035
      Consensus CDS
      CCDS7728.1
      UniProtKB/Swiss-Prot
      B3KX48, B7WP08, C9JAF2, E3UN45, P01344, P78449, Q14299, Q1WM26, Q9UC68, Q9UC69
      UniProtKB/TrEMBL
      A8K6C9
      Related
      ENSP00000370796.1, ENST00000381389.5
      Conserved Domains (2) summary
      cd04368
      Location:2891
      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 a ...
      pfam08365
      Location:112166
      IGF2_C; Insulin-like growth factor II E-peptide

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      2129117..2149566 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      2216758..2237216 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)