Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 8660
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol IRS2   Gene   UCSC   Ensembl
Aliases IRS-2
Gene name insulin receptor substrate 2
Alternate names insulin receptor substrate 2,
Gene location 13q34 (109786566: 109753836)     Exons: 2     NC_000013.11
Gene summary(Entrez) 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]
OMIM 600797

Protein Summary

Protein general information Q9Y4H2  

Name: Insulin receptor substrate 2 (IRS 2)

Length: 1338  Mass: 137,334

Sequence MASPPRHGPPGPASGDGPNLNNNNNNNNHSVRKCGYLRKQKHGHKRFFVLRGPGAGGDEATAGGGSAPQPPRLEY
YESEKKWRSKAGAPKRVIALDCCLNINKRADAKHKYLIALYTKDEYFAVAAENEQEQEGWYRALTDLVSEGRAAA
GDAPPAAAPAASCSASLPGALGGSAGAAGAEDSYGLVAPATAAYREVWQVNLKPKGLGQSKNLTGVYRLCLSART
IGFVKLNCEQPSVTLQLMNIRRCGHSDSFFFIEVGRSAVTGPGELWMQADDSVVAQNIHETILEAMKALKELFEF
RPRSKSQSSGSSATHPISVPGARRHHHLVNLPPSQTGLVRRSRTDSLAATPPAAKCSSCRVRTASEGDGGAAAGA
AAAGARPVSVAGSPLSPGPVRAPLSRSHTLSGGCGGRGSKVALLPAGGALQHSRSMSMPVAHSPPAATSPGSLSS
SSGHGSGSYPPPPGPHPPLPHPLHHGPGQRPSSGSASASGSPSDPGFMSLDEYGSSPGDLRAFCSHRSNTPESIA
ETPPARDGGGGGEFYGYMTMDRPLSHCGRSYRRVSGDAAQDLDRGLRKRTYSLTTPARQRPVPQPSSASLDEYTL
MRATFSGSAGRLCPSCPASSPKVAYHPYPEDYGDIEIGSHRSSSSNLGADDGYMPMTPGAALAGSGSGSCRSDDY
MPMSPASVSAPKQILQPRAAAAAAAAVPSAGPAGPAPTSAAGRTFPASGGGYKASSPAESSPEDSGYMRMWCGSK
LSMEHADGKLLPNGDYLNVSPSDAVTTGTPPDFFSAALHPGGEPLRGVPGCCYSSLPRSYKAPYTCGGDSDQYVL
MSSPVGRILEEERLEPQATPGPSQAASAFGAGPTQPPHPVVPSPVRPSGGRPEGFLGQRGRAVRPTRLSLEGLPS
LPSMHEYPLPPEPKSPGEYINIDFGEPGARLSPPAPPLLASAASSSSLLSASSPASSLGSGTPGTSSDSRQRSPL
SDYMNLDFSSPKSPKPGAPSGHPVGSLDGLLSPEASSPYPPLPPRPSASPSSSLQPPPPPPAPGELYRLPPASAV
ATAQGPGAASSLSSDTGDNGDYTEMAFGVAATPPQPIAAPPKPEAARVASPTSGVKRLSLMEQVSGVEAFLQASQ
PPDPHRGAKVIRADPQGGRRRHSSETFSSTTTVTPVSPSFAHNPKRHNSASVENVSLRKSSEGGVGVGPGGGDEP
PTSPRQLQPAPPLAPQGRPWTPGQPGGLVGCPGSGGSPMRRETSAGFQNGLNYIAIDVREEPGLPPQPQPPPPPL
PQPGDKSSWGRTRSLGGLISAVGVGSTGGGCGGPGPGALPPANTYASIDFLSHHLKEATIVKE
Structural information
Protein Domains
PH. (16-144)
IRS-type (194-298)

Motifs
YXXM motif(540-543)
YXXM motif(598-601)
YXXM motif(653-656)
YXXM motif(675-678)
YXXM motif(742-745)
YXXM motif(823-826)
YXXM motif(1072-1075)
Interpro:  IPR002404 IPR011993 IPR001849
Prosite:   PS51064 PS50003

Pfam:  
PF02174 PF00169
CDD:   cd01204

PDB:  
3FQW 3FQX
PDBsum:   3FQW 3FQX
MINT:   156306
STRING:   ENSP00000365016;
Other Databases GeneCards:  IRS2;  Malacards:  IRS2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000165 MAPK cascade
TAS biological_process
GO:0002053 positive regulation of me
senchymal cell proliferat
ion
IEA biological_process
GO:0002903 negative regulation of B
cell apoptotic process
ISS biological_process
GO:0004871 signal transducer activit
y
IEA molecular_function
GO:0005088 Ras guanyl-nucleotide exc
hange factor activity
TAS molecular_function
GO:0005158 insulin receptor binding
IBA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005829 cytosol
IBA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005886 plasma membrane
IBA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0006006 glucose metabolic process
TAS biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0007420 brain development
IEA biological_process
GO:0008283 cell proliferation
IEA biological_process
GO:0008284 positive regulation of ce
ll proliferation
NAS biological_process
GO:0008286 insulin receptor signalin
g pathway
ISS biological_process
GO:0008286 insulin receptor signalin
g pathway
IBA biological_process
GO:0009749 response to glucose
ISS biological_process
GO:0010748 negative regulation of pl
asma membrane long-chain
fatty acid transport
IMP biological_process
GO:0010907 positive regulation of gl
ucose metabolic process
IMP biological_process
GO:0014066 regulation of phosphatidy
linositol 3-kinase signal
ing
TAS biological_process
GO:0016303 1-phosphatidylinositol-3-
kinase activity
TAS molecular_function
GO:0019216 regulation of lipid metab
olic process
TAS biological_process
GO:0019901 protein kinase binding
IEA molecular_function
GO:0019903 protein phosphatase bindi
ng
IEA molecular_function
GO:0019904 protein domain specific b
inding
IEA molecular_function
GO:0030335 positive regulation of ce
ll migration
IEA biological_process
GO:0030879 mammary gland development
IEA biological_process
GO:0030890 positive regulation of B
cell proliferation
ISS biological_process
GO:0032000 positive regulation of fa
tty acid beta-oxidation
IMP biological_process
GO:0032024 positive regulation of in
sulin secretion
ISS biological_process
GO:0032869 cellular response to insu
lin stimulus
IMP biological_process
GO:0033673 negative regulation of ki
nase activity
ISS biological_process
GO:0036092 phosphatidylinositol-3-ph
osphate biosynthetic proc
ess
IEA biological_process
GO:0043547 positive regulation of GT
Pase activity
IEA biological_process
GO:0043548 phosphatidylinositol 3-ki
nase binding
IBA molecular_function
GO:0045725 positive regulation of gl
ycogen biosynthetic proce
ss
IMP biological_process
GO:0045725 positive regulation of gl
ycogen biosynthetic proce
ss
NAS biological_process
GO:0046326 positive regulation of gl
ucose import
IMP biological_process
GO:0046854 phosphatidylinositol phos
phorylation
IEA biological_process
GO:0046934 phosphatidylinositol-4,5-
bisphosphate 3-kinase act
ivity
TAS molecular_function
GO:0048015 phosphatidylinositol-medi
ated signaling
TAS biological_process
GO:0055088 lipid homeostasis
TAS biological_process
GO:0071333 cellular response to gluc
ose stimulus
IEA biological_process
GO:0071889 14-3-3 protein binding
IEA molecular_function
GO:0000165 MAPK cascade
TAS biological_process
GO:0002053 positive regulation of me
senchymal cell proliferat
ion
IEA biological_process
GO:0002903 negative regulation of B
cell apoptotic process
IEA biological_process
GO:0002903 negative regulation of B
cell apoptotic process
ISS biological_process
GO:0004871 signal transducer activit
y
IEA molecular_function
GO:0004871 signal transducer activit
y
TAS molecular_function
GO:0004871 signal transducer activit
y
TAS molecular_function
GO:0005088 Ras guanyl-nucleotide exc
hange factor activity
TAS molecular_function
GO:0005158 insulin receptor binding
IEA molecular_function
GO:0005158 insulin receptor binding
IEA molecular_function
GO:0005158 insulin receptor binding
IBA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005737 cytoplasm
IEA cellular_component
GO:0005829 cytosol
IEA cellular_component
GO:0005829 cytosol
IBA cellular_component
GO:0005829 cytosol
IEA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IBA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0006006 glucose metabolic process
TAS biological_process
GO:0007165 signal transduction
IEA biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0007420 brain development
IEA biological_process
GO:0008283 cell proliferation
IEA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IEA biological_process
GO:0008284 positive regulation of ce
ll proliferation
NAS biological_process
GO:0008286 insulin receptor signalin
g pathway
IEA biological_process
GO:0008286 insulin receptor signalin
g pathway
ISS biological_process
GO:0008286 insulin receptor signalin
g pathway
IBA biological_process
GO:0009749 response to glucose
IEA biological_process
GO:0009749 response to glucose
ISS biological_process
GO:0010748 negative regulation of pl
asma membrane long-chain
fatty acid transport
IMP biological_process
GO:0010907 positive regulation of gl
ucose metabolic process
IMP biological_process
GO:0014066 regulation of phosphatidy
linositol 3-kinase signal
ing
TAS biological_process
GO:0016303 1-phosphatidylinositol-3-
kinase activity
TAS molecular_function
GO:0019216 regulation of lipid metab
olic process
TAS biological_process
GO:0019901 protein kinase binding
IEA molecular_function
GO:0019903 protein phosphatase bindi
ng
IEA molecular_function
GO:0019904 protein domain specific b
inding
IEA molecular_function
GO:0030335 positive regulation of ce
ll migration
IEA biological_process
GO:0030879 mammary gland development
IEA biological_process
GO:0030890 positive regulation of B
cell proliferation
IEA biological_process
GO:0030890 positive regulation of B
cell proliferation
ISS biological_process
GO:0032000 positive regulation of fa
tty acid beta-oxidation
IMP biological_process
GO:0032024 positive regulation of in
sulin secretion
IEA biological_process
GO:0032024 positive regulation of in
sulin secretion
ISS biological_process
GO:0032869 cellular response to insu
lin stimulus
IEA biological_process
GO:0032869 cellular response to insu
lin stimulus
IMP biological_process
GO:0033673 negative regulation of ki
nase activity
IEA biological_process
GO:0033673 negative regulation of ki
nase activity
ISS biological_process
GO:0036092 phosphatidylinositol-3-ph
osphate biosynthetic proc
ess
IEA biological_process
GO:0043547 positive regulation of GT
Pase activity
IEA biological_process
GO:0043548 phosphatidylinositol 3-ki
nase binding
IEA molecular_function
GO:0043548 phosphatidylinositol 3-ki
nase binding
IBA molecular_function
GO:0045725 positive regulation of gl
ycogen biosynthetic proce
ss
IMP biological_process
GO:0045725 positive regulation of gl
ycogen biosynthetic proce
ss
NAS biological_process
GO:0046326 positive regulation of gl
ucose import
IMP biological_process
GO:0046854 phosphatidylinositol phos
phorylation
IEA biological_process
GO:0046934 phosphatidylinositol-4,5-
bisphosphate 3-kinase act
ivity
TAS molecular_function
GO:0048015 phosphatidylinositol-medi
ated signaling
TAS biological_process
GO:0055088 lipid homeostasis
TAS biological_process
GO:0071333 cellular response to gluc
ose stimulus
IEA biological_process
GO:0071889 14-3-3 protein binding
IEA molecular_function
GO:1901653 cellular response to pept
ide
IEA biological_process
GO:0000165 MAPK cascade
TAS biological_process
GO:0002903 negative regulation of B
cell apoptotic process
ISS biological_process
GO:0004871 signal transducer activit
y
TAS molecular_function
GO:0004871 signal transducer activit
y
TAS molecular_function
GO:0005088 Ras guanyl-nucleotide exc
hange factor activity
TAS molecular_function
GO:0005158 insulin receptor binding
IBA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005829 cytosol
IBA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005886 plasma membrane
IBA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0006006 glucose metabolic process
TAS biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0008284 positive regulation of ce
ll proliferation
NAS biological_process
GO:0008286 insulin receptor signalin
g pathway
ISS biological_process
GO:0008286 insulin receptor signalin
g pathway
IBA biological_process
GO:0009749 response to glucose
ISS biological_process
GO:0010748 negative regulation of pl
asma membrane long-chain
fatty acid transport
IMP biological_process
GO:0010907 positive regulation of gl
ucose metabolic process
IMP biological_process
GO:0014066 regulation of phosphatidy
linositol 3-kinase signal
ing
TAS biological_process
GO:0016303 1-phosphatidylinositol-3-
kinase activity
TAS molecular_function
GO:0019216 regulation of lipid metab
olic process
TAS biological_process
GO:0030890 positive regulation of B
cell proliferation
ISS biological_process
GO:0032000 positive regulation of fa
tty acid beta-oxidation
IMP biological_process
GO:0032024 positive regulation of in
sulin secretion
ISS biological_process
GO:0032869 cellular response to insu
lin stimulus
IMP biological_process
GO:0033673 negative regulation of ki
nase activity
ISS biological_process
GO:0043548 phosphatidylinositol 3-ki
nase binding
IBA molecular_function
GO:0045725 positive regulation of gl
ycogen biosynthetic proce
ss
IMP biological_process
GO:0045725 positive regulation of gl
ycogen biosynthetic proce
ss
NAS biological_process
GO:0046326 positive regulation of gl
ucose import
IMP biological_process
GO:0046934 phosphatidylinositol-4,5-
bisphosphate 3-kinase act
ivity
TAS molecular_function
GO:0048015 phosphatidylinositol-medi
ated signaling
TAS biological_process
GO:0055088 lipid homeostasis
TAS biological_process

KEGG pathways

hsa05206  MicroRNAs in cancer
hsa04068  FoxO signaling pathway
hsa04932  Non-alcoholic fatty liver disease
hsa04152  AMPK signaling pathway
hsa04910  Insulin signaling pathway
hsa04931  Insulin resistance
hsa04211  Longevity regulating pathway
hsa04140  Autophagy - animal
hsa04920  Adipocytokine signaling pathway
hsa04213  Longevity regulating pathway
hsa04022  cGMP-PKG signaling pathway
hsa04923  Regulation of lipolysis in adipocytes
hsa04930  Type II diabetes mellitus

Diseases

Associated diseases References
Alzheimer's disease PMID: 19141999
Asthma PMID: 19604268
Atherosclerosis PMID: 18506362
Diabetes OMIM: 600797
Diminished ovarian reserve (DOR) PMID: 22906700, 22246450
Endometrial cancer PMID: 20184486
Endometriosis PMID: 19878940
Inflammatory bowel disease PMID: 17068223
Obesity PMID: 12687350
Polycystic ovary syndrome (PCOS) PMID: 12213887
Polycystic ovary syndrome (PCOS) PMID: 15926113
Endometriosis INFBASE19878940

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
19878940 Endometrio
sis
IRS2 (G1057D)
270 (135 women
with endometrio
sis (63 women i
n stages I-II e
ndometriosis, 7
2 women in stag
es III-IV), 135
women without
endometriosis)
IRS2
Show abstract