IRS2 insulin receptor substrate 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IRS2provided by HGNC
Official Full Name: insulin receptor substrate 2provided by HGNC
Primary source: HGNC:HGNC:6126
See related: Ensembl:ENSG00000185950 MIM:600797
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: IRS-2
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]
Expression: Broad expression in bone marrow (RPKM 24.6), fat (RPKM 23.1) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q34

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
109.20210226	current	GRCh38.p13 (GCF_000001405.39)	13	NC_000013.11 (109752695..109786583, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (110405042..110438930, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MiRNA-200a-3p suppresses the proliferation, migration and invasion of non-small cell lung cancer through targeting IRS2.
Title: MiRNA-200a-3p suppresses the proliferation, migration and invasion of non-small cell lung cancer through targeting IRS2.
Night-Shift Work Duration and Risk of Colorectal Cancer According to IRS1 and IRS2 Expression.
Title: Night-Shift Work Duration and Risk of Colorectal Cancer According to <i>IRS1</i> and <i>IRS2</i> Expression.
A 3'-untranslated region variant (rs2289046) of insulin receptor substrate 2 gene is associated with susceptibility to nonalcoholic fatty liver disease.
Title: A 3'-untranslated region variant (rs2289046) of insulin receptor substrate 2 gene is associated with susceptibility to nonalcoholic fatty liver disease.
Oncogenic ERG Represses PI3K Signaling through Downregulation of IRS2.
Title: Oncogenic ERG Represses PI3K Signaling through Downregulation of IRS2.
Circ_0000003 promotes the proliferation and metastasis of non-small cell lung cancer cells via miR-338-3p/insulin receptor substrate 2.
Title: Circ_0000003 promotes the proliferation and metastasis of non-small cell lung cancer cells via miR-338-3p/insulin receptor substrate 2.
microRNA-448 inhibits the progression of non-small-cell lung cancer through regulating IRS2.
Title: microRNA-448 inhibits the progression of non-small-cell lung cancer through regulating IRS2.
Commutative regulation between endothelial NO synthase and insulin receptor substrate 2 by microRNAs.
Title: Commutative regulation between endothelial NO synthase and insulin receptor substrate 2 by microRNAs.
Methylation at CYP2E1 associated with both ASD diagnosis and genotype within the DMR. In contrast, methylation at IRS2 was unaffected by within DMR genotype but modified by preconceptional maternal prenatal vitamin use. This study therefore identified two potentially useful early epigenetic markers for ASD in placenta.
Title: Placental DNA methylation levels at CYP2E1 and IRS2 are associated with child outcome in a prospective autism study.
Tumors with low IRS-1 and high IRS-2 expression were found to be associated with poor outcomes in adenocarcinoma and squamous cell carcinoma, indicating a potential role for IRS-2 in the aggressive behavior of NSCLC.
Title: Insulin Receptor Substrate-1 (IRS-1) and IRS-2 expression levels are associated with prognosis in non-small cell lung cancer (NSCLC).
IRS2 mutations identified in pleomorphic invasive lobular carcinoma (PILC) enhance invasion, revealing a role for this signaling adaptor in the aggressive nature of PILC.
Title: IRS2 mutations linked to invasion in pleomorphic invasive lobular carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (141)

Phenotypes

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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
Type 2 diabetes mellitus MedGen: C0011860 OMIM: 125853 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A006G14 (e-PCR)
- UniSTS:1823

WI-11813 (e-PCR)
- UniSTS:77432

D13S1354 (e-PCR)
- UniSTS:75662

G32344 (e-PCR)
- UniSTS:116935

SHGC-36212 (e-PCR)
- UniSTS:53232

Homology

Homologs of the IRS2 gene: The IRS2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 308 organisms have orthologs with human gene IRS2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
14-3-3 protein binding	IEA Inferred from Electronic Annotation more info
insulin receptor binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
phosphatidylinositol 3-kinase binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein domain specific binding	IEA Inferred from Electronic Annotation more info
protein kinase binding	IEA Inferred from Electronic Annotation more info
protein phosphatase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
MAPK cascade	TAS Traceable Author Statement more info
axon guidance	TAS Traceable Author Statement more info
brain development	IEA Inferred from Electronic Annotation more info
cellular response to glucose stimulus	IEA Inferred from Electronic Annotation more info
cellular response to insulin stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
glucose metabolic process	TAS Traceable Author Statement more info	PubMed
insulin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
insulin receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
interleukin-7-mediated signaling pathway	TAS Traceable Author Statement more info
lipid homeostasis	TAS Traceable Author Statement more info	PubMed
mammary gland development	IEA Inferred from Electronic Annotation more info
negative regulation of B cell apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of kinase activity	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of long-chain fatty acid import across plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
phosphatidylinositol-mediated signaling	TAS Traceable Author Statement more info
positive regulation of B cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of Ras protein signal transduction	TAS Traceable Author Statement more info
positive regulation of cell migration	IEA Inferred from Electronic Annotation more info
positive regulation of cell population proliferation	NAS Non-traceable Author Statement more info	PubMed
positive regulation of fatty acid beta-oxidation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of glucose import	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of glucose metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of glycogen biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of glycogen biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
positive regulation of insulin secretion	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of mesenchymal cell proliferation	IEA Inferred from Electronic Annotation more info
positive regulation of phosphatidylinositol 3-kinase signaling	TAS Traceable Author Statement more info
positive regulation of protein kinase B signaling	TAS Traceable Author Statement more info
regulation of lipid metabolic process	TAS Traceable Author Statement more info	PubMed
response to glucose	ISS Inferred from Sequence or Structural Similarity more info
signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cytosol	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cytosol	TAS Traceable Author Statement more info
plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
protein-containing complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: insulin receptor substrate 2

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

NG_008154.1 RefSeqGene

Range

4985..38873

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003749.3 → NP_003740.2 insulin receptor substrate 2

See identical proteins and their annotated locations for NP_003740.2

Status: REVIEWED

Source sequence(s)

AB050954, AF073310, AF161416, AF385933, AL162497, BC026044, CA416129, CA952668

Consensus CDS

CCDS9510.1

UniProtKB/Swiss-Prot

Q9Y4H2

UniProtKB/TrEMBL

Q9P084

Related

ENSP00000365016.3, ENST00000375856.5

Conserved Domains (3) summary

cd01204
Location:194 → 297

PTB_IRS; Insulin receptor substrate phosphotyrosine-binding domain (PTBi)

cd01257
Location:31 → 147

PH_IRS; Insulin receptor substrate (IRS) pleckstrin homology (PH) domain

pfam00169
Location:31 → 144

PH; PH domain