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

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Summary

Official Symbol: IGF2provided by HGNC
Official Full Name: insulin-like growth factor 2 (somatomedin A)provided by HGNC
Primary source: HGNC:5466
Locus tag: PP1446
See related: Ensembl:ENSG00000167244; HPRD:00939; HPRD:17410; 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: IGF-II; PP9974; C11orf43; FLJ22066; FLJ44734
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]

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Genomic context

Location :: 11p15.5

Sequence :: Chromosome: 11; NC_000011.9 (2150347..2170833, complement)

See IGF2 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

IGF2 and IMP3 had different expression patterns, which might be associated with angiogenesis. However, cytoplasmic and nuclear expression of IGF2 and IMP3 might play different roles in the angiogenesis of osteosarcoma.
Title: The distribution of IGF2 and IMP3 in osteosarcoma and its relationship with angiogenesis.
This study aimed at establishing and clarifying the effect of cord serum insulin, IGF-II, IGFBP-2, cortisol and IL-6 concentrations on birth length and weight.
Title: Effects of cord serum insulin, IGF-II, IGFBP-2, IL-6 and cortisol concentrations on human birth weight and length: pilot study.
IGF2 is a novel regulator of adult hippocampal neurogenesis.
Title: Gene expression profiling of neural stem cells and their neuronal progeny reveals IGF2 as a regulator of adult hippocampal neurogenesis.
Adaptive increases in IGF2 and IGF1 are found in insulin receptor-deficient individuals.
Title: Characterisation of adiponectin multimers and the IGF axis in humans with a heterozygote mutation in the tyrosine kinase domain of the insulin receptor gene.
Specific hypomethylated CpGs at the IGF2 locus act as an epigenetic biomarker for familial adenomatous polyposis colorectal cancer.
Title: Specific hypomethylated CpGs at the IGF2 locus act as an epigenetic biomarker for familial adenomatous polyposis colorectal cancer.
This study has lead to a greater understanding of the mechanisms of IGF-II binding and activation of the IGF-1R and IR-A.
Title: Understanding the mechanism of insulin and insulin-like growth factor (IGF) receptor activation by IGF-II.
Class I homozygosity at 5'VNTR is a significant risk factor of T1DM and acts independently from HLA haplotype in determining the actual risk of diabetes in children.
Title: Increased risk of type 1 diabetes in Polish children - association with INS-IGF2 5'VNTR and lack of association with HLA haplotype.
In placentas from pregnancies with IUGR an overexpression of the IGF-2 and the insulin-like growth factor binding protein (IGFBP)-3 genes was found.
Title: Gene expression patterns of insulin-like growth factor 1, insulin-like growth factor 2 and insulin-like growth factor binding protein 3 in human placenta from pregnancies with intrauterine growth restriction.
The placental lectins have no effect on the binding of IGF-II to IGF II Receptor.
Title: Influence of placental mannose/n-acetyl glucosamine-binding proteins on the interaction of insulin and insulin-like growth factors with their receptors.
Associations were found between risk of breast cancer and linkage disequilibrium blocks in IGF2 for BRCA1 and BRCA2 mutation carriers, HTRA1 for BRCA1 carriers, and MMP3 for BRCA2 carriers.
Title: Genetic variation in IGF2 and HTRA1 and breast cancer risk among BRCA1 and BRCA2 carriers.

Submit: New GeneRIF Correction See all (262)

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.

Intrauterine and postnatal growth retardation

MIM: 147470

Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_000603.1	NP_000587.1	IGFBP1	BIND	PubMed	IGF-II interacts with IGFBP-1.
NP_000603.1	NP_000588.1	IGFBP2	BIND	PubMed	IGF-II interacts with IGFBP-2.
NP_000603.1	NP_000589.1	IGFBP3	BIND	PubMed	IGF-II interacts with IGFBP-3.
NP_000603.1	NP_001543.1	IGFBP4	BIND	PubMed	IGF-II interacts with IGFBP-4.
NP_000603.1	NP_000590.1	IGFBP5	BIND	PubMed	IGF-II interacts with IGFBP-5.
NP_000603.1	NP_002169.1	IGFBP6	BIND	PubMed	IGF-II interacts with IGFBP-6.
P01344	P51654	GPC3	HPRD	PubMed
P01344	P14735	IDE	HPRD	PubMed
P01344	P08069	IGF1R	HPRD	PubMed
P01344	P11717	IGF2R	HPRD	PubMed
P01344	P08833	IGFBP1	HPRD	PubMed
P01344	P18065	IGFBP2	HPRD	PubMed
P01344	P17936	IGFBP3	HPRD	PubMed
P01344	P22692	IGFBP4	HPRD	PubMed
P01344	P24593	IGFBP5	HPRD	PubMed
P01344	P24592	IGFBP6	HPRD	PubMed
P01344	Q16270	IGFBP7	HPRD	PubMed
P01344	P06213	INSR	HPRD	PubMed
P01344	P48745	NOV	HPRD	PubMed
P01344	Proprotein convertase PC4	PCSK4	HPRD	PubMed
P01344	P00747	PLG	HPRD	PubMed
P01344	P04004	VTN	HPRD	PubMed
BioGRID:109702	BioGRID:113647	BAG6	BioGRID	PubMed	Two-hybrid
BioGRID:109702	BioGRID:116298	FAF1	BioGRID	PubMed	Two-hybrid
BioGRID:109702	BioGRID:109642	IDE	BioGRID	PubMed	Reconstituted Complex
BioGRID:109702	BioGRID:109705	IGFBP1	BioGRID	PubMed	Reconstituted Complex
BioGRID:109702	BioGRID:109707	IGFBP3	BioGRID	PubMed	Reconstituted Complex
BioGRID:109702	BioGRID:109708	IGFBP4	BioGRID	PubMed	Reconstituted Complex
BioGRID:109702	BioGRID:109709	IGFBP5	BioGRID	PubMed	Reconstituted Complex
BioGRID:109702	BioGRID:109710	IGFBP6	BioGRID	PubMed	Reconstituted Complex
BioGRID:109702	BioGRID:109711	IGFBP7	BioGRID	PubMed	Reconstituted Complex
BioGRID:109702	BioGRID:118080	ITGB1BP3	BioGRID	PubMed	Two-hybrid
BioGRID:109702	BioGRID:110918	NOV	BioGRID	PubMed	Reconstituted Complex
BioGRID:109702	BioGRID:112876	TF	BioGRID	PubMed	Reconstituted Complex
BioGRID:109702	BioGRID:113287	VTN	BioGRID	PubMed	Reconstituted Complex

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	TAS Traceable Author Statement 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 activator activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
glucose metabolic process	IEA Inferred from Electronic Annotation more info
insulin receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
insulin receptor signaling pathway via phosphatidylinositol 3-kinase cascade	ISS Inferred from Sequence or Structural Similarity more info
multicellular organismal development	TAS Traceable Author Statement more info	PubMed
ossification	IEA Inferred from Electronic Annotation 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 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 mitosis	IDA Inferred from Direct Assay more info	PubMed
positive regulation of peptidyl-tyrosine phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of protein kinase B signaling cascade	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	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of receptor activity	ISS Inferred from Sequence or Structural Similarity more info
regulation of gene expression by genetic imprinting	TAS Traceable Author Statement more info	PubMed
regulation of transcription, DNA-dependent	NAS Non-traceable Author Statement more info	PubMed
skeletal system development	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
extracellular region	TAS Traceable Author Statement more info
extracellular space	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: insulin-like growth factor II

Names: insulin-like growth factor II; somatomedin-A; insulin-like growth factor type 2

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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

NG_008849.1 RefSeqGene

Range

5001..25487

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000612.4 → NP_000603.1 insulin-like growth factor II isoform 1 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the most predominant transcript. Transcript variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AC132217, AK025719, BC053318, BC073756, BM667567, M17426

Consensus CDS

CCDS7728.1

UniProtKB/Swiss-Prot

P01344

Related

ENSP00000414497, OTTHUMP00000011012, ENST00000416167, OTTHUMT00000026053

Conserved Domains (2) summary

cd04368
Location:28 – 91
Blast Score: 245

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:112 – 166
Blast Score: 167

IGF2_C; Insulin-like growth factor II E-peptide
NM_001007139.4 → NP_001007140.2 insulin-like growth factor II isoform 1 preproprotein

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. Transcript variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AC132217, AK025719, BC073756, BM667567, DQ104203, X00910

Consensus CDS

CCDS7728.1

UniProtKB/Swiss-Prot

P01344

Related

ENSP00000300632, ENST00000300632

Conserved Domains (2) summary

cd04368
Location:28 – 91
Blast Score: 245

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:112 – 166
Blast Score: 167

IGF2_C; Insulin-like growth factor II E-peptide
NM_001127598.1 → NP_001121070.1 insulin-like growth factor II isoform 2

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, BM667567, BP233290

Consensus CDS

CCDS44517.1

UniProtKB/TrEMBL

C9JAF2

Related

ENSP00000391826, OTTHUMP00000011158, ENST00000434045, OTTHUMT00000026060

Conserved Domains (3) summary

cd04368
Location:84 – 147
Blast Score: 257

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
Blast Score: 164

IGF2_C; Insulin-like growth factor II E-peptide

cl00015
Location:4 – 51
Blast Score: 86

nt_trans; nucleotidyl transferase superfamily

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 Primary Assembly

Range

2150347..2170833, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

1940869..1961095, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC132217.15 (98084..117038)	None
genomic	AF517226.1	AAM51825.1
genomic	CH471158.1	EAX02485.1
genomic	FB571441.1	CAR95138.1
genomic	GM741469.1	CAV31678.1
genomic	M22373.1	AAA52536.1
genomic	X03425.1	CAA27155.1
genomic	X03426.1	CAA27156.1
genomic	X03427.1	CAA27157.1
genomic	X03562.1	CAA27249.1
genomic	X07868.1	CAA30717.1
mRNA	AF318382.1	AAL55889.1
mRNA	AK025719.1	None
mRNA	AK074614.1	None
mRNA	AK126688.1	BAG54360.1
mRNA	AK313938.1	BAG36657.1
mRNA	AY971350.1	AAY40360.1
mRNA	BC000531.1	AAH00531.1
mRNA	BC011786.2	None
mRNA	BC042127.1	None
mRNA	BC053318.1	None
mRNA	BC073756.1	None
mRNA	BE270173.1	None
mRNA	BM667567.1	None
mRNA	BP233290.1	None
mRNA	BT007013.1	AAP35659.1
mRNA	DA641853.1	None
mRNA	DQ104203.1	ABD93451.1
mRNA	HM481219.1	ADO21454.1
mRNA	HM481220.1	ADO21455.1
mRNA	J03242.1	AAA52545.1
mRNA	M17426.1	AAA60088.1
mRNA	M17863.1	AAA52443.1
mRNA	M29645.1	AAA52544.1
mRNA	S77035.1	AAB34155.1
mRNA	X00910.1	CAA25426.1
mRNA	X06159.1	CAA29516.1
mRNA	X06161.1	CAA29518.1
mRNA	X06160.1	CAA29517.1
other-genetic	DQ892721.2	ABM83647.1
other-genetic	DQ895970.2	ABM86896.1