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

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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 11p15.5

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (2129117..2149566, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (2216758..2237216, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (2150347..2170796, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cyclic negative pressure promotes chondrocyte growth: Association of IGF-2 with EGR-1.
Title: Cyclic negative pressure promotes chondrocyte growth: Association of IGF-2 with EGR-1.
Maternal perceived stress and green spaces during pregnancy are associated with adult offspring gene (NR3C1 and IGF2/H19) methylation patterns in adulthood: A pilot study.
Title: Maternal perceived stress and green spaces during pregnancy are associated with adult offspring gene (NR3C1 and IGF2/H19) methylation patterns in adulthood: A pilot study.
Cohesin Mutations Induce Chromatin Conformation Perturbation of the H19/IGF2 Imprinted Region and Gene Expression Dysregulation in Cornelia de Lange Syndrome Cell Lines.
Title: Cohesin Mutations Induce Chromatin Conformation Perturbation of the H19/IGF2 Imprinted Region and Gene Expression Dysregulation in Cornelia de Lange Syndrome Cell Lines.
The associations of IGF2, IGF2R and IGF2BP2 gene polymorphisms with gestational diabetes mellitus: A case-control study.
Title: The associations of IGF2, IGF2R and IGF2BP2 gene polymorphisms with gestational diabetes mellitus: A case-control study.
Unmasking early colorectal cancer clues: in silico and in vitro investigation of downregulated IGF2, SOCS1, MLH1, and CACNA1G in SSA polyps.
Title: Unmasking early colorectal cancer clues: in silico and in vitro investigation of downregulated IGF2, SOCS1, MLH1, and CACNA1G in SSA polyps.
IGF-1 and IGF-2 as Molecules Linked to Causes and Consequences of Obesity from Fetal Life to Adulthood: A Systematic Review.
Title: IGF-1 and IGF-2 as Molecules Linked to Causes and Consequences of Obesity from Fetal Life to Adulthood: A Systematic Review.
Association of IGF-1 and IGF-2 genotypes with respiratory muscle strength in individuals with COPD: A cross-sectional study.
Title: Association of IGF-1 and IGF-2 genotypes with respiratory muscle strength in individuals with COPD: A cross-sectional study.
Activation of the insulin receptor by insulin-like growth factor 2.
Title: Activation of the insulin receptor by insulin-like growth factor 2.
Hsa_circ_0036872 has an important promotional effect in enhancing osteogenesis of dental pulp stem cells by regulating the miR-143-3p/IGF2 axis.
Title: Hsa_circ_0036872 has an important promotional effect in enhancing osteogenesis of dental pulp stem cells by regulating the miR-143-3p/IGF2 axis.
Effects of methylation and imprinting expression of Insulin-like growth factor 2 gene in gastric cancer.
Title: Effects of methylation and imprinting expression of Insulin-like growth factor 2 gene in gastric cancer.

Submit: New GeneRIF Correction See all GeneRIFs (601)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Beckwith-Wiedemann syndrome MedGen: C0004903 OMIM: 130650 GeneReviews: Wilms Tumor Predisposition, Beckwith-Wiedemann Syndrome	Compare labs
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 MedGen: CN033288 OMIM: 194070 GeneReviews: Wilms Tumor Predisposition, PAX6-Related Aniridia, WT1 Disorder	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

EBI GWAS Catalog

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

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

IGF2 (e-PCR)
- UniSTS:11529

A002D21 (e-PCR)
- UniSTS:7185

ECD03096 (e-PCR)
- UniSTS:284183

SGC35182 (e-PCR)
- UniSTS:31773

ECD00261 (e-PCR)
- UniSTS:281375

ECD05174 (e-PCR)
- UniSTS:286240

ECD07233 (e-PCR)
- UniSTS:288290

ECD07757 (e-PCR)
- UniSTS:288807

D8S2278 (e-PCR)
- UniSTS:473906

ECD00298 (e-PCR)
- UniSTS:281411

GDB:572840 (e-PCR)
- UniSTS:157769

ECD05737 (e-PCR)
- UniSTS:286799

PMC151856P1 (e-PCR)
- UniSTS:271187

PMC151856P2 (e-PCR)
- UniSTS:271188

D11S4734 (e-PCR)
- UniSTS:148821

GDB:438178 (e-PCR)
- UniSTS:157274

ECD03179 (e-PCR)
- UniSTS:284264

ECD11676 (e-PCR)
- UniSTS:292712

ECD00602 (e-PCR)
- UniSTS:281712

ECD02927 (e-PCR)
- UniSTS:284019

IGF2 (e-PCR)
- UniSTS:10368

GDB:677440 (e-PCR)
- UniSTS:158598

ECD03988 (e-PCR)
- UniSTS:285068

PMC124986P1 (e-PCR)
- UniSTS:270477

ECD02954 (e-PCR)
- UniSTS:284045

G44328 (e-PCR)
- UniSTS:95117

ECD21742 (e-PCR)
- UniSTS:302735

GDB:187027 (e-PCR)
- UniSTS:155537

ECD07090 (e-PCR)
- UniSTS:288148

ECD04781 (e-PCR)
- UniSTS:285852

ECD02194 (e-PCR)
- UniSTS:283294

REN116981 (e-PCR)
- UniSTS:441776

REN116982 (e-PCR)
- UniSTS:441777

ECD02732 (e-PCR)
- UniSTS:283826

REN116983 (e-PCR)
- UniSTS:441778

REN116984 (e-PCR)
- UniSTS:441779

REN116985 (e-PCR)
- UniSTS:441780

REN116986 (e-PCR)
- UniSTS:441781

REN116987 (e-PCR)
- UniSTS:441782

REN116988 (e-PCR)
- UniSTS:441783

REN116989 (e-PCR)
- UniSTS:441784

REN116990 (e-PCR)
- UniSTS:441785

REN116991 (e-PCR)
- UniSTS:441786

REN116992 (e-PCR)
- UniSTS:441787

ECD08420 (e-PCR)
- UniSTS:289468

REN116993 (e-PCR)
- UniSTS:441788

REN116994 (e-PCR)
- UniSTS:441789

REN116995 (e-PCR)
- UniSTS:441790

PMC21842P3 (e-PCR)
- UniSTS:272073

ECD02763 (e-PCR)
- UniSTS:283857

REN117016 (e-PCR)
- UniSTS:441811

REN117019 (e-PCR)
- UniSTS:441814

ECD06903 (e-PCR)
- UniSTS:287961

WI-14149 (e-PCR)
- UniSTS:50912

STS-S77035 (e-PCR)
- UniSTS:16357

ECD00988 (e-PCR)
- UniSTS:282097

STS-H87011 (e-PCR)
- UniSTS:14322

REN117053 (e-PCR)
- UniSTS:441848

ECD03070 (e-PCR)
- UniSTS:284157

ECD03071 (e-PCR)
- UniSTS:284158

Readthrough INS-IGF2

Readthrough gene: INS-IGF2, Included gene: INS

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	IDA Inferred from Direct Assay more info	PubMed

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

Go to the top of the page Help

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)

Go to the top of the page Help

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

NG_008849.1 RefSeqGene

Range

5038..25487

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1031

mRNA and Protein(s)

NM_000612.6 → NP_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:28 → 91

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:112 → 166

IGF2_C; Insulin-like growth factor II E-peptide
NM_001007139.6 → NP_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:28 → 91

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:112 → 166

IGF2_C; Insulin-like growth factor II E-peptide
NM_001127598.3 → NP_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:84 → 147

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:168 → 222

IGF2_C; Insulin-like growth factor II E-peptide

cl00015
Location:4 → 51

nt_trans; nucleotidyl transferase superfamily
NM_001291861.3 → NP_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:28 → 91

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:112 → 166

IGF2_C; Insulin-like growth factor II E-peptide
NM_001291862.3 → NP_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:28 → 91

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:112 → 166

IGF2_C; Insulin-like growth factor II E-peptide