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; AllianceGenome:HGNC:6126
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
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (109752695..109786583, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (108981231..109015226, complement)
RS_2024_09	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 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?

Insulin receptor substrate 2 gene Gly1057Asp polymorphism is a risk factor for nonalcoholic fatty liver disease.
Title: Insulin receptor substrate 2 gene Gly1057Asp polymorphism is a risk factor for nonalcoholic fatty liver disease.
Influence of polymorphisms in IRS1, IRS2, MC3R, and MC4R on metabolic and inflammatory status and food intake in Brazilian adults: An exploratory pilot study.
Title: Influence of polymorphisms in IRS1, IRS2, MC3R, and MC4R on metabolic and inflammatory status and food intake in Brazilian adults: An exploratory pilot study.
The IGF-Independent Role of IRS-2 in the Secretion of MMP-9 Enhances the Growth of Prostate Carcinoma Cell Line PC3.
Title: The IGF-Independent Role of IRS-2 in the Secretion of MMP-9 Enhances the Growth of Prostate Carcinoma Cell Line PC3.
Association of IRS-1 and IRS-2 polymorphisms with predisposition to type-2 diabetes (T2D): a meta-analysis and trial sequential analysis.
Title: Association of IRS-1 and IRS-2 polymorphisms with predisposition to type-2 diabetes (T2D): a meta-analysis and trial sequential analysis.
Enhancer RNA IRS2e is essential for IRS2 expression and the oncogenic properties in oral squamous cell carcinoma.
Title: Enhancer RNA IRS2e is essential for IRS2 expression and the oncogenic properties in oral squamous cell carcinoma.
Identification of the ageing-related prognostic gene signature, and the associated regulation axis in skin cutaneous melanoma.
Title: Identification of the ageing-related prognostic gene signature, and the associated regulation axis in skin cutaneous melanoma.
Structural Consequences of IRS-2 nsSNPs and Implication for Insulin Receptor Substrate-2 Protein Stability.
Title: Structural Consequences of IRS-2 nsSNPs and Implication for Insulin Receptor Substrate-2 Protein Stability.
MicroRNA-7 Regulates Insulin Signaling Pathway by Targeting IRS1, IRS2, and RAF1 Genes in Gestational Diabetes Mellitus.
Title: MicroRNA-7 Regulates Insulin Signaling Pathway by Targeting IRS1, IRS2, and RAF1 Genes in Gestational Diabetes Mellitus.
Single nucleotide polymorphisms in binding site of miRNA-135a and targeted gene IRS2 are correlated with multiple clinical features of PCOS: A study in Chinese women.
Title: Single nucleotide polymorphisms in binding site of miRNA-135a and targeted gene IRS2 are correlated with multiple clinical features of PCOS: A study in Chinese women.
Circular RNA circPRKDC promotes tumorigenesis of gastric cancer via modulating insulin receptor substrate 2 (IRS2) and mediating microRNA-493-5p.
Title: Circular RNA circPRKDC promotes tumorigenesis of gastric cancer via modulating insulin receptor substrate 2 (IRS2) and mediating microRNA-493-5p.

Submit: New GeneRIF Correction See all GeneRIFs (159)

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: WFS1 Spectrum Disorder	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

Gene Ontology Provided by GOA

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

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

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement 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

Q96RR2, Q9BZG0, Q9Y4H2, Q9Y6I5

UniProtKB/TrEMBL

Q96RG4

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