IRS2: Polycystic Ovarian Syndrome Database

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IRS2

Gene Information

SNPs

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

Gene Information

Gene Symbol

IRS2

Aliases

IRS-2

Entrez Gene ID

8660

Gene Name

Insulin receptor substrate 2

Chromosomal Location

13q34

HGNC ID

HGNC:6126

Summary

This gene encodes the insulin receptor substrate 2, a cytoplasmic signaling molecule that mediates effects of insulin, insulin-like growth factor 1, and other cytokines by acting as a molecular adaptor between diverse receptor tyrosine kinases and downstream effectors. The product of this gene is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation, as well as by an interleukin 4 receptor-associated kinase in response to IL4 treatment. [provided by RefSeq, Jul 2008]

RefSeq DNA

NG_008154.1

RefSeq mRNA

NM_003749.3

e!Ensembl

Gene	ENSG00000185950
Transcript	ENST00000375856
Protein	ENSP00000365016

SNPs

SNP Id	Upstream Sequence	SNP	Downstream Sequence	Functional Significance	References
rs7997595	TCATGTGACTTTCATTCACGAAAGCC	C/G	GTGTGTGTTTTCATTAGCACCTTAG	Intron variant	21300347

Gene Ontology (GO)

Show/Hide all(18 )

GO ID	Ontology	Function	Evidence	Reference
GO:0006006	Biological process	Glucose metabolic process	TAS	9495343
GO:0007165	Biological process	Signal transduction	TAS	7675087
GO:0008284	Biological process	Positive regulation of cell proliferation	NAS	17925406
GO:0008286	Biological process	Insulin receptor signaling pathway	IBA	21873635
GO:0010748	Biological process	Negative regulation of plasma membrane long-chain fatty acid transport	IMP	16814735
GO:0010907	Biological process	Positive regulation of glucose metabolic process	IMP	16814735
GO:0019216	Biological process	Regulation of lipid metabolic process	TAS	16814735
GO:0032000	Biological process	Positive regulation of fatty acid beta-oxidation	IMP	16814735
GO:0032869	Biological process	Cellular response to insulin stimulus	IMP	16814735
GO:0045725	Biological process	Positive regulation of glycogen biosynthetic process	IMP	16814735
GO:0045725	Biological process	Positive regulation of glycogen biosynthetic process	NAS	17925406
GO:0046326	Biological process	Positive regulation of glucose import	IMP	16814735
GO:0055088	Biological process	Lipid homeostasis	TAS	16814735
GO:0005829	Cellular component	Cytosol	IBA	21873635
GO:0005886	Cellular component	Plasma membrane	IBA	21873635
GO:0005158	Molecular function	Insulin receptor binding	IBA	21873635
GO:0005515	Molecular function	Protein binding	IPI	15161933, 17901049, 21241768, 23617393, 26496610
GO:0043548	Molecular function	Phosphatidylinositol 3-kinase binding	IBA	21873635

Protein Information

Protein Name

Insulin receptor substrate 2

Function

May mediate the control of various cellular processes by insulin

Refseq Proteins

NP_003740.2

UniProt

Q9Y4H2

PDB

3FQW, 3FQX

Pfam

Pfam Accession	Pfam ID
PF02174	IRS
PF00169	PH

Pathways
	KEGG	Reactome
	cGMP-PKG signaling pathway FoxO signaling pathway Autophagy - animal AMPK signaling pathway Longevity regulating pathway Longevity regulating pathway - multiple species Insulin signaling pathway Adipocytokine signaling pathway Regulation of lipolysis in adipocytes Type II diabetes mellitus Insulin resistance Non-alcoholic fatty liver disease (NAFLD) MicroRNAs in cancer	PI3K Cascade IRS-mediated signalling SOS-mediated signalling PIP3 activates AKT signaling Interleukin-7 signaling PI3K/AKT activation Constitutive Signaling by Aberrant PI3K in Cancer IRS-related events triggered by IGF1R RAF/MAP kinase cascade PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling IRS activation Signal attenuation RET signaling Erythropoietin activates Phosphoinositide-3-kinase (PI3K) Erythropoietin activates RAS

Interactions

STRING	MINT	IntAct
ENSP00000353198	P10082	P10082

View interactions

Associated Diseases

Show/Hide all(3 )

Disease group	Disease Name	References
Endocrine System Diseases
Endocrine System Diseases	PCOS	20210696
Neoplasms
	Liver Cancer	16127164
	Medulloblastoma	19270706
	Stomach Cancer	16367923
	Gastric Cancer	16367923
Nutritional and Metabolic Diseases
Nutritional and Metabolic Diseases	Hyperglycemia	25808216, 20028942

References

Show/Hide all(4)

PubMed ID	Associated gene/s	Associated condition	Genetic Mutation	Diagnostic Criteria	Association with PCOS	Ethnicity	Conclusion
16037106	IRS-1		G972A variant	PCOS was defined by oligo-ovulation, clinical and/or biochemical hyperandrogenism and exclusion of hyperprolactinaemia (serum prolactin <24 g/l), non-classic congenital adrenal hyperplasia [adrenocorticotrophic hormone (ACTH)-stimulated 17-hydroxyprogest	Related	Spanish PCOS (n = 103) women compared with a control group (n = 48)	The Gly972Arg in IRS-1 and Gly1057Asp in IRS-2 polymorphisms influence glucose homeostasis in premenopausal women, but are not associated with PCOS.
15840293					Direct	insulin resistance (n = 19), PCOS without insulin resistance (n = 17) and controls (n = 20)	The decrease of tyrosine phosphorylation of IRS-2 in PCOS patients, which induces impairment of the insulin signal pathway, may be one of the mechanisms leading to insulin resistance.
21300347	GSK-3		variants in genes	Rotterdam criteria	Related	273 cases with PCOS and 173 control cohort; and 526 cases and 3585 control subjects in the replication cohort	A pathway-based tagging SNP approach allowed us to identify novel INSR SNPs associated with PCOS, one of which confirmed association in a large replication cohort.
22205343	IRS-1			NIH criteria	Related	48 Iranian women diagnosed withPCOS were enrolled and 52 control	Considering that no association between the IRS-1 Gly972Arg and IRS-2 Gly1057Asp polymorphisms and PCOS were found, the results confirm that these polymorphisms should not be considered as major contributors to the pathogenesis of this disorder.

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