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

Gene ID: 3481, updated on 25-Nov-2021

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
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
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Genomic context

See IGF2 in Genome Data Viewer
Location:
11p15.5
Exon count:
9
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (2129117..2149566, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2150342..2170833, 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.
GeneReviews: Not available
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
GeneReviews: Not available
Beckwith-Wiedemann syndrome Compare labs
Bivariate genome-wide association analyses identified genes with pleiotropic effects for femoral neck bone geometry and age at menarche.
GeneReviews: Not available
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
GeneReviews: Not available
GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
GeneReviews: Not available
Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.
GeneReviews: Not available
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
GeneReviews: Not available
Silver-Russell syndrome 1
MedGen: C5393125 OMIM: 180860 GeneReviews: Silver-Russell Syndrome
Compare labs
Silver-Russell syndrome 3
MedGen: C4225307 OMIM: 616489 GeneReviews: Not available
Compare labs
Wilms tumor 1 Compare labs

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

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

Homology

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
PubMed 
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
PubMed 
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
PubMed 
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
 
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 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 TAS
Traceable Author Statement
more info
PubMed 
involved_in insulin receptor signaling pathway via phosphatidylinositol 3-kinase ISS
Inferred from Sequence or Structural Similarity
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
PubMed 
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
PubMed 
involved_in positive regulation of activated T cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of catalytic activity ISS
Inferred from Sequence or Structural Similarity
more info
 
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 
involved_in positive regulation of glycogen (starch) synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of glycogen (starch) synthase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in 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
PubMed 
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 peptidyl-tyrosine phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of peptidyl-tyrosine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of protein kinase B signaling IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
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
PubMed 
involved_in positive regulation of vascular endothelial cell proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of gene expression by genetic imprinting TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of histone modification ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of muscle cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of muscle cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
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
PubMed 
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)

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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
    P01344
    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
    P01344
    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
    P01344
    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
    P01344
    UniProtKB/TrEMBL
    E3UN46
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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