IRS1 (insulin receptor substrate 1) - Rat Genome Database

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Gene: IRS1 (insulin receptor substrate 1) Homo sapiens
Analyze
Symbol: IRS1
Name: insulin receptor substrate 1
RGD ID: 733473
HGNC Page HGNC
Description: Enables several functions, including phosphotyrosine residue binding activity; signaling receptor binding activity; and signaling receptor complex adaptor activity. Involved in several processes, including phosphatidylinositol 3-kinase signaling; positive regulation of small molecule metabolic process; and transmembrane receptor protein tyrosine kinase signaling pathway. Located in caveola; cytosol; and nucleoplasm. Implicated in Alzheimer's disease; coronary artery disease; and type 2 diabetes mellitus. Biomarker of Alzheimer's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: HIRS-1; IRS-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Is Marker For: QTLs:   BW376_H  
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2226,731,312 - 226,799,820 (-)EnsemblGRCh38hg38GRCh38
GRCh382226,731,312 - 226,799,820 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372227,596,028 - 227,664,536 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362227,308,182 - 227,372,719 (-)NCBINCBI36hg18NCBI36
Build 342227,425,442 - 227,489,980NCBI
Celera2221,365,560 - 221,433,036 (-)NCBI
Cytogenetic Map2q36.3NCBI
HuRef2219,439,592 - 219,507,082 (-)NCBIHuRef
CHM1_12227,601,926 - 227,669,382 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(S)-nicotine  (ISO)
(Z)-ligustilide  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
3-methyladenine  (EXP)
3-methylcholanthrene  (ISO)
4-phenylbutyric acid  (ISO)
8-Br-cAMP  (EXP)
9-cis,11-trans-octadecadienoic acid  (ISO)
acetylsalicylic acid  (EXP)
acrylamide  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP)
allopurinol  (ISO)
alloxan  (ISO)
ammonium chloride  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP,ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
biotin  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bortezomib  (EXP)
buta-1,3-diene  (ISO)
Butylbenzyl phthalate  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
capsaicin  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
carmustine  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
cholesterol  (EXP)
choline  (ISO)
chromium atom  (ISO)
chromium(6+)  (EXP,ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP)
coenzyme Q10  (ISO)
colforsin daropate hydrochloride  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
CU-O LINKAGE  (EXP)
curcumin  (EXP,ISO)
cycloheximide  (EXP)
cyclophosphamide  (EXP)
cyclosporin A  (EXP,ISO)
D-glucose  (EXP)
decabromodiphenyl ether  (ISO)
dehydroepiandrosterone  (ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
diclofenac  (EXP,ISO)
dicrotophos  (EXP)
Didymin  (EXP)
dioxygen  (ISO)
disodium selenite  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ethanol  (ISO)
flavonol  (EXP)
folic acid  (ISO)
folpet  (ISO)
formaldehyde  (EXP)
fructose  (ISO)
fulvestrant  (EXP)
gamma-hexachlorocyclohexane  (ISO)
Ganoderic acid A  (ISO)
genistein  (EXP)
gingerol  (ISO)
ginsenoside Re  (ISO)
Ginsenoside Rh4  (ISO)
glucose  (EXP)
glyburide  (EXP)
glyphosate  (EXP)
hexachlorobenzene  (EXP,ISO)
hexadecanoic acid  (EXP)
hydroquinone  (EXP)
isoprenaline  (ISO)
ketanserin  (ISO)
L-ascorbic acid  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
leflunomide  (EXP,ISO)
linsidomine  (ISO)
lipopolysaccharide  (ISO)
lovastatin  (ISO)
melatonin  (ISO)
mercury atom  (ISO)
mercury dibromide  (EXP)
mercury(0)  (ISO)
metformin  (EXP,ISO)
methamphetamine  (EXP,ISO)
methoxychlor  (ISO)
methylglyoxal  (ISO)
methylmercury chloride  (EXP,ISO)
microcystin-LR  (EXP,ISO)
miquelianin  (EXP)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
myricetin  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
N-acetyl-L-cysteine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
naringin  (ISO)
nickel atom  (EXP)
nicotine  (ISO)
oleanolic acid  (ISO)
orientin  (ISO)
ozone  (ISO)
paracetamol  (EXP)
paraquat  (ISO)
paroxetine  (ISO)
perfluorododecanoic acid  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (EXP)
phenethyl caffeate  (ISO)
phenylmercury acetate  (EXP)
phosgene  (ISO)
pirinixic acid  (ISO)
progesterone  (EXP,ISO)
propiconazole  (ISO)
propionic acid  (ISO)
quercetin  (EXP,ISO)
rebaudioside A  (ISO)
resveratrol  (EXP,ISO)
rivastigmine  (ISO)
rutin  (EXP,ISO)
sarpogrelate  (ISO)
SB 203580  (EXP)
SB 431542  (EXP)
serotonin  (ISO)
sertraline  (ISO)
silicon dioxide  (ISO)
simvastatin  (ISO)
sirolimus  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
Sodium salicylate  (EXP)
steviol  (ISO)
stevioside  (ISO)
streptozocin  (ISO)
sucrose  (EXP)
sulpiride  (ISO)
sunitinib  (EXP)
tamoxifen  (EXP)
taurine  (EXP,ISO)
temozolomide  (EXP)
Tesaglitazar  (ISO)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
theophylline  (EXP)
Tiron  (EXP)
titanium dioxide  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (ISO)
Triptolide  (ISO)
tris(picolinato)chromium  (ISO)
troglitazone  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
vitamin E  (EXP,ISO)
wortmannin  (EXP,ISO)
zinc atom  (EXP,ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
aging  (ISO)
cellular response to angiotensin  (ISO)
cellular response to brain-derived neurotrophic factor stimulus  (ISO)
cellular response to fatty acid  (ISS)
cellular response to insulin stimulus  (IMP,ISO)
cellular response to radiation  (ISO)
glucose homeostasis  (TAS)
insulin receptor signaling pathway  (IBA,IDA,IMP,IPI)
insulin secretion  (ISO)
insulin-like growth factor receptor signaling pathway  (IPI)
lipid catabolic process  (ISO)
mammary gland development  (ISO)
negative regulation of insulin receptor signaling pathway  (ISS)
negative regulation of insulin secretion  (IDA)
negative regulation of somatostatin secretion  (ISO)
phosphatidylinositol 3-kinase signaling  (IDA)
positive regulation of cell migration  (ISO)
positive regulation of cell population proliferation  (NAS)
positive regulation of fatty acid beta-oxidation  (IMP)
positive regulation of glucagon secretion  (ISO)
positive regulation of glucose import  (IDA,IMP)
positive regulation of glucose metabolic process  (IMP)
positive regulation of glycogen biosynthetic process  (IMP,NAS)
positive regulation of insulin receptor signaling pathway  (IDA,ISS)
positive regulation of mesenchymal cell proliferation  (ISO)
positive regulation of phosphatidylinositol 3-kinase activity  (ISO,ISS)
positive regulation of phosphorylation  (ISO)
protein kinase B signaling  (ISO)
protein localization to nucleus  (ISO)
regulation of gene expression  (ISO)
response to activity  (ISO)
response to caffeine  (ISO)
response to insulin  (IDA)
response to peptide hormone  (ISS)
signal transduction  (TAS)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
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18. Li SQ, etal., Tohoku J Exp Med. 2011;225(3):179-86.
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22. OMIM Disease Annotation Pipeline
23. Pilon G, etal., PLoS One. 2010 Dec 28;5(12):e15912.
24. Pipeline to import KEGG annotations from KEGG into RGD
25. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
26. Pipeline to import SMPDB annotations from SMPDB into RGD
27. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
28. RGD automated import pipeline for gene-chemical interactions
29. Sun XJ, etal., Nature 1991 Jul 4;352(6330):73-7.
30. Talbot K, etal., J Clin Invest. 2012 Mar 22. pii: 59903. doi: 10.1172/JCI59903.
31. Tan Y, etal., Toxicol Lett. 2012 Nov 15;214(3):279-87. doi: 10.1016/j.toxlet.2012.09.007. Epub 2012 Sep 17.
32. Villar M, etal., Biochim Biophys Acta. 2006 Feb;1763(2):197-206. Epub 2006 Jan 4.
33. Wang W, etal., J Clin Neurosci. 2014 Jul;21(7):1233-7. doi: 10.1016/j.jocn.2013.09.028. Epub 2013 Dec 19.
34. Yan XW, etal., Zhonghua Wai Ke Za Zhi. 2009 Aug 15;47(16):1257-60.
35. Zeggini E, etal., Diabetes. 2004 Dec;53(12):3319-22.
36. Zhou QG, etal., Am J Physiol Heart Circ Physiol. 2012 Nov 1;303(9):H1154-65. doi: 10.1152/ajpheart.00407.2012. Epub 2012 Aug 31.
37. Zolotnik IA, etal., Life Sci. 2012 Oct 22;91(15-16):816-22. doi: 10.1016/j.lfs.2012.08.038. Epub 2012 Sep 13.
Additional References at PubMed
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PMID:7559478   PMID:7559507   PMID:7629070   PMID:7659087   PMID:7680095   PMID:7680644   PMID:7782332   PMID:7935368   PMID:7935386   PMID:7935461   PMID:8020946   PMID:8104271  
PMID:8175658   PMID:8240352   PMID:8349691   PMID:8382612   PMID:8388384   PMID:8491186   PMID:8505282   PMID:8513971   PMID:8524391   PMID:8530377   PMID:8536716   PMID:8550573  
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PMID:10206679   PMID:10411883   PMID:10417350   PMID:10455176   PMID:10455177   PMID:10497255   PMID:10660596   PMID:10679027   PMID:10722755   PMID:10843189   PMID:10854852   PMID:10856136  
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PMID:11317670   PMID:11403293   PMID:11416002   PMID:11522686   PMID:11579209   PMID:11604231   PMID:11606564   PMID:11694516   PMID:11694888   PMID:11739394   PMID:11775217   PMID:11781100  
PMID:11872698   PMID:11874945   PMID:11877394   PMID:11912194   PMID:11969417   PMID:11978177   PMID:12006586   PMID:12031982   PMID:12107745   PMID:12107746   PMID:12167717   PMID:12173038  
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PMID:12477932   PMID:12493740   PMID:12510059   PMID:12524443   PMID:12554758   PMID:12560071   PMID:12565902   PMID:12588284   PMID:12606535   PMID:12624099   PMID:12660731   PMID:12730242  
PMID:12732844   PMID:12763374   PMID:12765939   PMID:12783867   PMID:12819898   PMID:12821935   PMID:12843189   PMID:12910680   PMID:12933652   PMID:12934392   PMID:12960006   PMID:14511371  
PMID:14559999   PMID:14583092   PMID:14602724   PMID:14604996   PMID:14632132   PMID:14642408   PMID:14668342   PMID:14671192   PMID:14693412   PMID:14707024   PMID:14966273   PMID:14968112  
PMID:14988278   PMID:15001544   PMID:15003536   PMID:15044323   PMID:15069075   PMID:15127203   PMID:15155816   PMID:15161794   PMID:15182363   PMID:15209769   PMID:15222685   PMID:15240653  
PMID:15247132   PMID:15308584   PMID:15318176   PMID:15324660   PMID:15364919   PMID:15474880   PMID:15489334   PMID:15514089   PMID:15516986   PMID:15522123   PMID:15561965   PMID:15572028  
PMID:15581831   PMID:15582274   PMID:15588985   PMID:15590636   PMID:15592455   PMID:15604215   PMID:15629149   PMID:15634339   PMID:15636429   PMID:15665022   PMID:15678496   PMID:15705377  
PMID:15759454   PMID:15778465   PMID:15781195   PMID:15802620   PMID:15849359   PMID:15926113   PMID:15940190   PMID:15965906   PMID:15985484   PMID:16020478   PMID:16030120   PMID:16037106  
PMID:16043515   PMID:16084882   PMID:16127460   PMID:16128672   PMID:16129678   PMID:16129690   PMID:16131083   PMID:16150444   PMID:16230374   PMID:16233930   PMID:16273093   PMID:16284438  
PMID:16284649   PMID:16354680   PMID:16367885   PMID:16418171   PMID:16448675   PMID:16489531   PMID:16516141   PMID:16522427   PMID:16582879   PMID:16603055   PMID:16648810   PMID:16734387  
PMID:16752222   PMID:16814735   PMID:16880210   PMID:16914728   PMID:16970908   PMID:17020651   PMID:17030605   PMID:17030631   PMID:17044098   PMID:17046546   PMID:17051426   PMID:17068339  
PMID:17075427   PMID:17081983   PMID:17124363   PMID:17179152   PMID:17222321   PMID:17222824   PMID:17276034   PMID:17279354   PMID:17332342   PMID:17360977   PMID:17361103   PMID:17374994  
PMID:17416760   PMID:17443311   PMID:17459875   PMID:17465001   PMID:17570749   PMID:17575262   PMID:17591841   PMID:17638892   PMID:17640984   PMID:17647275   PMID:17719609   PMID:17721511  
PMID:17721885   PMID:17827156   PMID:17827393   PMID:17868644   PMID:17898946   PMID:17901049   PMID:17905199   PMID:17908691   PMID:17914103   PMID:17925406   PMID:18059035   PMID:18208559  
PMID:18216326   PMID:18222120   PMID:18264722   PMID:18285345   PMID:18305032   PMID:18316360   PMID:18398029   PMID:18498745   PMID:18521741   PMID:18611262   PMID:18615395   PMID:18615538  
PMID:18642444   PMID:18660489   PMID:18676680   PMID:18710329   PMID:18716398   PMID:18729074   PMID:18834857   PMID:18851963   PMID:18952604   PMID:18992148   PMID:18992263   PMID:18996102  
PMID:19035139   PMID:19038974   PMID:19053277   PMID:19117011   PMID:19124510   PMID:19140314   PMID:19170196   PMID:19259821   PMID:19261680   PMID:19328476   PMID:19375584   PMID:19391107  
PMID:19418728   PMID:19420105   PMID:19447894   PMID:19453261   PMID:19557384   PMID:19561084   PMID:19578796   PMID:19625176   PMID:19639489   PMID:19671924   PMID:19692168   PMID:19716569  
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PMID:20176643   PMID:20207740   PMID:20210696   PMID:20229450   PMID:20351777   PMID:20363874   PMID:20384434   PMID:20416077   PMID:20416304   PMID:20437058   PMID:20437825   PMID:20452482  
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PMID:20682687   PMID:20685959   PMID:20686565   PMID:20730618   PMID:20738937   PMID:20824664   PMID:20855565   PMID:20977583   PMID:21204696   PMID:21241768   PMID:21289241   PMID:21325637  
PMID:21353221   PMID:21454638   PMID:21464990   PMID:21465511   PMID:21569802   PMID:21612394   PMID:21645940   PMID:21666240   PMID:21677657   PMID:21700086   PMID:21706003   PMID:21706016  
PMID:21832049   PMID:21850561   PMID:21852217   PMID:21873635   PMID:21917432   PMID:21939528   PMID:22005517   PMID:22187946   PMID:22205343   PMID:22266116   PMID:22305495   PMID:22323484  
PMID:22348058   PMID:22457523   PMID:22479202   PMID:22523112   PMID:22558377   PMID:22575725   PMID:22576021   PMID:22581228   PMID:22589738   PMID:22617042   PMID:22664743   PMID:22729394  
PMID:22759779   PMID:22766331   PMID:22797928   PMID:22824790   PMID:22935141   PMID:22974441   PMID:22994406   PMID:23045529   PMID:23048032   PMID:23073384   PMID:23147115   PMID:23201159  
PMID:23221578   PMID:23251408   PMID:23353623   PMID:23396401   PMID:23400783   PMID:23401856   PMID:23418314   PMID:23439647   PMID:23460019   PMID:23478262   PMID:23583389   PMID:23596181  
PMID:23604317   PMID:23606743   PMID:23615405   PMID:23643389   PMID:23659870   PMID:23697264   PMID:23708959   PMID:23720771   PMID:23754948   PMID:23770097   PMID:23818951   PMID:23828647  
PMID:23940030   PMID:24008843   PMID:24009303   PMID:24071662   PMID:24097068   PMID:24134599   PMID:24312276   PMID:24444362   PMID:24447396   PMID:24462868   PMID:24493031   PMID:24509480  
PMID:24550499   PMID:24584551   PMID:24612564   PMID:24616100   PMID:24690171   PMID:24695443   PMID:24696264   PMID:24703981   PMID:24762580   PMID:24763529   PMID:24898878   PMID:24947357  
PMID:24977713   PMID:25017784   PMID:25107476   PMID:25146448   PMID:25214251   PMID:25273559   PMID:25283858   PMID:25310961   PMID:25337259   PMID:25342129   PMID:25424426   PMID:25458098  
PMID:25477374   PMID:25645159   PMID:25667086   PMID:25683382   PMID:25689493   PMID:25760103   PMID:25813876   PMID:25814554   PMID:25820822   PMID:25902041   PMID:25944785   PMID:26040030  
PMID:26090471   PMID:26349669   PMID:26352220   PMID:26386696   PMID:26577117   PMID:26582067   PMID:26604643   PMID:26617742   PMID:26620983   PMID:26684358   PMID:26839216   PMID:26868433  
PMID:26972000   PMID:26991655   PMID:27005817   PMID:27098445   PMID:27119351   PMID:27133044   PMID:27143478   PMID:27247938   PMID:27434075   PMID:27439864   PMID:27483248   PMID:27509181  
PMID:27542674   PMID:27613089   PMID:27663718   PMID:27684187   PMID:27729374   PMID:27785750   PMID:27799458   PMID:27810898   PMID:27987331   PMID:28011403   PMID:28072873   PMID:28105773  
PMID:28320862   PMID:28360393   PMID:28364599   PMID:28380411   PMID:28696414   PMID:28959056   PMID:29029116   PMID:29162879   PMID:29180619   PMID:29256014   PMID:29269414   PMID:29332545  
PMID:29380446   PMID:29495974   PMID:29507755   PMID:29509190   PMID:29526746   PMID:29551677   PMID:29610318   PMID:29630758   PMID:29661273   PMID:29676528   PMID:29717275   PMID:29729186  
PMID:29738527   PMID:29749571   PMID:29884820   PMID:29970713   PMID:29991678   PMID:30058674   PMID:30240640   PMID:30305144   PMID:30338032   PMID:30419905   PMID:30578299   PMID:30658672  
PMID:30726932   PMID:30773093   PMID:30816452   PMID:30884193   PMID:30888963   PMID:31210063   PMID:31248719   PMID:31393907   PMID:31446532   PMID:31446747   PMID:31515271   PMID:31619254  
PMID:31666286   PMID:31894287   PMID:31957029   PMID:32003208   PMID:32055715   PMID:32143907   PMID:32213702   PMID:32271422   PMID:32319643   PMID:32337956   PMID:32540195   PMID:32564738  
PMID:32576196   PMID:32695243   PMID:32798372   PMID:32821075   PMID:33007330   PMID:33109107   PMID:33144693   PMID:33402679   PMID:33581131   PMID:33854235  


Genomics

Candidate Gene Status
IRS1 is a candidate Gene for QTL BW375_H
IRS1 is a candidate Gene for QTL BW373_H
IRS1 is a candidate Gene for QTL BW374_H
IRS1 is a candidate Gene for QTL BW376_H
Comparative Map Data
IRS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2226,731,312 - 226,799,820 (-)EnsemblGRCh38hg38GRCh38
GRCh382226,731,312 - 226,799,820 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372227,596,028 - 227,664,536 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362227,308,182 - 227,372,719 (-)NCBINCBI36hg18NCBI36
Build 342227,425,442 - 227,489,980NCBI
Celera2221,365,560 - 221,433,036 (-)NCBI
Cytogenetic Map2q36.3NCBI
HuRef2219,439,592 - 219,507,082 (-)NCBIHuRef
CHM1_12227,601,926 - 227,669,382 (-)NCBICHM1_1
Irs1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39182,210,826 - 82,269,160 (-)NCBIGRCm39mm39
GRCm39 Ensembl182,210,833 - 82,213,654 (+)Ensembl
GRCm39 Ensembl182,210,822 - 82,269,137 (-)Ensembl
GRCm38182,233,105 - 82,291,439 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl182,233,112 - 82,235,933 (+)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl182,233,101 - 82,291,416 (-)EnsemblGRCm38mm10GRCm38
MGSCv37182,229,680 - 82,288,014 (-)NCBIGRCm37mm9NCBIm37
MGSCv36182,115,634 - 82,170,440 (-)NCBImm8
Celera182,301,640 - 82,360,019 (-)NCBICelera
Cytogenetic Map1C5NCBI
cM Map142.0NCBI
Irs1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2983,552,964 - 83,605,797 (-)NCBImRatBN7.2
Rnor_6.0 Ensembl988,033,668 - 88,086,488 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0988,033,668 - 88,086,488 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0987,782,499 - 87,835,248 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4981,585,251 - 81,638,071 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1981,768,669 - 81,821,490 (-)NCBI
Celera980,997,490 - 81,050,250 (-)NCBICelera
Cytogenetic Map9q34NCBI
Irs1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554537,685,715 - 7,742,262 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554537,685,715 - 7,742,262 (+)NCBIChiLan1.0ChiLan1.0
IRS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B232,785,822 - 232,853,997 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B232,849,239 - 232,852,967 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B113,973,191 - 114,041,127 (-)NCBIMhudiblu_PPA_v0panPan3
IRS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12539,624,554 - 39,687,991 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2540,246,368 - 40,306,296 (-)NCBI
ROS_Cfam_1.02539,876,307 - 39,936,286 (-)NCBI
UMICH_Zoey_3.12539,811,057 - 39,873,068 (-)NCBI
UNSW_CanFamBas_1.02539,647,771 - 39,707,665 (-)NCBI
UU_Cfam_GSD_1.02539,826,700 - 39,886,691 (-)NCBI
Irs1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303181,813,749 - 181,875,259 (-)NCBI
SpeTri2.0NW_0049365259,064,442 - 9,125,972 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IRS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15128,245,846 - 128,308,335 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115128,245,846 - 128,307,321 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215142,086,134 - 142,147,797 (+)NCBISscrofa10.2Sscrofa10.2susScr3
IRS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110112,748,283 - 112,812,368 (-)NCBI
Vero_WHO_p1.0NW_02366604086,628,478 - 86,694,818 (+)NCBI
Irs1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248431,113,075 - 1,178,859 (-)NCBI

Position Markers
D2S2389  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,646,451 - 227,646,681UniSTSGRCh37
Build 362227,354,695 - 227,354,925RGDNCBI36
Celera2221,415,981 - 221,416,211RGD
Cytogenetic Map2q36UniSTS
HuRef2219,490,027 - 219,490,257UniSTS
Marshfield Genetic Map2228.61UniSTS
Marshfield Genetic Map2228.61RGD
Genethon Genetic Map2236.1UniSTS
deCODE Assembly Map2229.85UniSTS
SHGC-82871  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,628,067 - 227,628,400UniSTSGRCh37
Build 362227,336,311 - 227,336,644RGDNCBI36
Celera2221,397,597 - 221,397,930RGD
Cytogenetic Map2q36UniSTS
HuRef2219,471,631 - 219,471,964UniSTS
TNG Radiation Hybrid Map2106832.0UniSTS
GDB:456117  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,661,818 - 227,662,085UniSTSGRCh37
Build 362227,370,062 - 227,370,329RGDNCBI36
Celera2221,431,348 - 221,431,615RGD
Cytogenetic Map2q36UniSTS
HuRef2219,505,394 - 219,505,661UniSTS
GDB:456125  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,660,437 - 227,660,699UniSTSGRCh37
Build 362227,368,681 - 227,368,943RGDNCBI36
Celera2221,429,967 - 221,430,229RGD
Cytogenetic Map2q36UniSTS
HuRef2219,504,013 - 219,504,275UniSTS
SHGC-52849  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,600,537 - 227,600,658UniSTSGRCh37
Build 362227,308,781 - 227,308,902RGDNCBI36
Celera2221,370,064 - 221,370,185RGD
Cytogenetic Map2q36UniSTS
HuRef2219,444,096 - 219,444,217UniSTS
WI-18042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,656,894 - 227,657,020UniSTSGRCh37
Build 362227,365,138 - 227,365,264RGDNCBI36
Celera2221,426,424 - 221,426,550RGD
Cytogenetic Map2q36UniSTS
HuRef2219,500,470 - 219,500,596UniSTS
GeneMap99-GB4 RH Map2702.62UniSTS
Whitehead-RH Map21049.1UniSTS
PMC86565P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,660,359 - 227,660,856UniSTSGRCh37
Build 362227,368,603 - 227,369,100RGDNCBI36
Celera2221,429,889 - 221,430,386RGD
Cytogenetic Map2q36UniSTS
HuRef2219,503,935 - 219,504,432UniSTS
IRS1_760  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,599,892 - 227,600,735UniSTSGRCh37
Build 362227,308,136 - 227,308,979RGDNCBI36
Celera2221,369,419 - 221,370,262RGD
HuRef2219,443,451 - 219,444,294UniSTS
RH68643  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,607,350 - 227,607,502UniSTSGRCh37
Build 362227,315,594 - 227,315,746RGDNCBI36
Celera2221,376,881 - 221,377,033RGD
Cytogenetic Map2q36UniSTS
HuRef2219,450,911 - 219,451,063UniSTS
GeneMap99-GB4 RH Map2702.62UniSTS
RH17903  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,600,236 - 227,600,408UniSTSGRCh37
Build 362227,308,480 - 227,308,652RGDNCBI36
Celera2221,369,763 - 221,369,935RGD
Cytogenetic Map2q36UniSTS
HuRef2219,443,795 - 219,443,967UniSTS
GeneMap99-GB4 RH Map2702.62UniSTS
D2S2647  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,600,647 - 227,600,752UniSTSGRCh37
Build 362227,308,891 - 227,308,996RGDNCBI36
Celera2221,370,174 - 221,370,279RGD
Cytogenetic Map2q36UniSTS
HuRef2219,444,206 - 219,444,311UniSTS
GeneMap99-GB4 RH Map2702.62UniSTS
Whitehead-RH Map21049.1UniSTS
Whitehead-YAC Contig Map2 UniSTS
RH69408  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,657,887 - 227,658,053UniSTSGRCh37
Build 362227,366,131 - 227,366,297RGDNCBI36
Celera2221,427,417 - 221,427,583RGD
Cytogenetic Map2q36UniSTS
HuRef2219,501,463 - 219,501,629UniSTS
GeneMap99-GB4 RH Map2702.62UniSTS
RH48158  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,596,584 - 227,596,737UniSTSGRCh37
Build 362227,304,828 - 227,304,981RGDNCBI36
Celera2221,366,111 - 221,366,264RGD
Cytogenetic Map2q36UniSTS
HuRef2219,440,143 - 219,440,296UniSTS
GeneMap99-GB4 RH Map2702.62UniSTS
NCBI RH Map21877.6UniSTS
IRS1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,662,198 - 227,662,417UniSTSGRCh37
Celera2221,431,728 - 221,431,947UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR152hsa-miR-152-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI22935141
MIR126hsa-miR-126-3pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blotFunctional MTI18834857
MIR126hsa-miR-126-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI21464990
MIR126hsa-miR-126-3pOncomiRDBexternal_infoNANA18834857
MIR126hsa-miR-126-5pMirecordsexternal_info{unchanged}NA18834857
MIR217hsa-miR-217Mirecordsexternal_infoNANA19502786
MIR7-2hsa-miR-7-5pMirtarbaseexternal_infoWestern blotFunctional MTI18483236
MIR96hsa-miR-96-3pMirecordsexternal_infoNANA19502786
MIR145hsa-miR-145-5pMirtarbaseexternal_infoLuciferase reporter assay//Northern blot//qRT-PCR/Functional MTI17827156
MIR145hsa-miR-145-5pMirtarbaseexternal_infoqRT-PCR//Western blotFunctional MTI19391107
MIR145hsa-miR-145-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22431718
MIR145hsa-miR-145-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI23201159
MIR145hsa-miR-145-5pTarbaseexternal_infoReporter GenePOSITIVE
MIR145hsa-miR-145-5pOncomiRDBexternal_infoNANA22431718
MIR145hsa-miR-145-5pOncomiRDBexternal_infoNANA17827156
MIR145hsa-miR-145-3pMirecordsexternal_info{unchanged}NA17827156
MIR7-1hsa-miR-7-5pMirtarbaseexternal_infoWestern blotFunctional MTI18483236
MIR223hsa-miR-223-5pMirecordsexternal_infoNANA19502786
MIR148Ahsa-miR-148a-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI22935141

Predicted Target Of
Summary Value
Count of predictions:1860
Count of miRNA genes:915
Interacting mature miRNAs:1119
Transcripts:ENST00000305123, ENST00000498335
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 1217 519 994 169 173 172 1753 761 386 151 851 1144 10 448 1032 1
Low 1217 1751 729 451 976 291 2602 1420 3120 261 585 463 162 1 756 1755 2
Below cutoff 3 718 3 2 785 2 1 13 216 7 20 4 3 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000305123   ⟹   ENSP00000304895
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2226,731,317 - 226,799,759 (-)Ensembl
RefSeq Acc Id: ENST00000498335
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2226,792,138 - 226,795,246 (-)Ensembl
RefSeq Acc Id: NM_005544   ⟹   NP_005535
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,731,312 - 226,799,820 (-)NCBI
GRCh372227,596,033 - 227,664,545 (-)NCBI
Build 362227,308,182 - 227,372,719 (-)NCBI Archive
HuRef2219,439,592 - 219,507,082 (-)ENTREZGENE
CHM1_12227,601,926 - 227,669,382 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005535   ⟸   NM_005544
- UniProtKB: P35568 (UniProtKB/Swiss-Prot),   A0A024R499 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000304895   ⟸   ENST00000305123
Protein Domains
IRS-type PTB   PH

Promoters
RGD ID:6862984
Promoter ID:EPDNEW_H4657
Type:initiation region
Name:IRS1_2
Description:insulin receptor substrate 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4658  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,799,179 - 226,799,239EPDNEW
RGD ID:6862986
Promoter ID:EPDNEW_H4658
Type:initiation region
Name:IRS1_1
Description:insulin receptor substrate 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4657  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,799,813 - 226,799,873EPDNEW
RGD ID:6797667
Promoter ID:HG_KWN:37524
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid,   NB4
Transcripts:ENST00000305123,   OTTHUMT00000258138,   UC010FXB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362227,371,591 - 227,372,852 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005544.3(IRS1):c.2164GGT[1] (p.Gly723del) microsatellite Type 2 diabetes mellitus [RCV000022623] Chr2:226796570..226796572 [GRCh38]
Chr2:227661286..227661288 [GRCh37]
Chr2:2q36.3
pathogenic
NM_005544.2(IRS1):c.2911G>A (p.Gly971Arg) single nucleotide variant Coronary artery disease, susceptibility to [RCV000022625]|Insulin resistance, susceptibility to [RCV000022624] Chr2:226795828 [GRCh38]
Chr2:227660544 [GRCh37]
Chr2:2q36.3
risk factor
NM_005544.2(IRS1):c.1823C>G (p.Thr608Arg) single nucleotide variant Type 2 diabetes mellitus [RCV000022626] Chr2:226796916 [GRCh38]
Chr2:227661632 [GRCh37]
Chr2:2q36.3
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] Chr2:212614422..227121230 [GRCh38]
Chr2:213479146..227985946 [GRCh37]
Chr2:213187391..227694190 [NCBI36]
Chr2:2q34-36.3
pathogenic
GRCh38/hg38 2q35-36.3(chr2:219547204-228287942)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052965]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052965]|See cases [RCV000052965] Chr2:219547204..228287942 [GRCh38]
Chr2:220411926..229152658 [GRCh37]
Chr2:220120170..228860902 [NCBI36]
Chr2:2q35-36.3
pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] Chr2:223992431..242126245 [GRCh38]
Chr2:224857148..243059659 [GRCh37]
Chr2:224565392..242717069 [NCBI36]
Chr2:2q36.1-37.3
pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3
pathogenic
GRCh38/hg38 2q36.3(chr2:226637143-226858469)x3 copy number gain See cases [RCV000138482] Chr2:226637143..226858469 [GRCh38]
Chr2:227501859..227723185 [GRCh37]
Chr2:227210103..227431429 [NCBI36]
Chr2:2q36.3
likely benign
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3
pathogenic
NM_005544.2(IRS1):c.3235C>T (p.Pro1079Ser) single nucleotide variant Type 2 diabetes mellitus [RCV000490330] Chr2:226795504 [GRCh38]
Chr2:227660220 [GRCh37]
Chr2:2q36.3
uncertain significance
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 copy number gain See cases [RCV000448049] Chr2:219966808..237815985 [GRCh37]
Chr2:2q35-37.3
pathogenic
GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)x1 copy number loss See cases [RCV000448773] Chr2:223378640..232061074 [GRCh37]
Chr2:2q36.1-37.1
likely pathogenic
NM_005544.2(IRS1):c.2452G>C (p.Gly818Arg) single nucleotide variant Type 2 diabetes mellitus [RCV000624939]|not specified [RCV000455122] Chr2:226796287 [GRCh38]
Chr2:227661003 [GRCh37]
Chr2:2q36.3
likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q36.3(chr2:226921892-227997073)x3 copy number gain See cases [RCV000510515] Chr2:226921892..227997073 [GRCh37]
Chr2:2q36.3
uncertain significance
GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3 copy number gain See cases [RCV000511816] Chr2:222077224..239394441 [GRCh37]
Chr2:2q36.1-37.3
pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_005544.3(IRS1):c.2039GCA[6] (p.Ser686del) microsatellite Type 2 diabetes mellitus [RCV000624940] Chr2:226796680..226796682 [GRCh38]
Chr2:227661396..227661398 [GRCh37]
Chr2:2q36.3
likely benign
NM_005544.2(IRS1):c.1534G>C (p.Ala512Pro) single nucleotide variant Type 2 diabetes mellitus [RCV000624941] Chr2:226797205 [GRCh38]
Chr2:227661921 [GRCh37]
Chr2:2q36.3
benign
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1 copy number loss not provided [RCV000585275] Chr2:217374144..227643620 [GRCh37]
Chr2:2q35-36.3
likely pathogenic
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q36.3(chr2:227547136-227721460)x3 copy number gain not provided [RCV000740919] Chr2:227547136..227721460 [GRCh37]
Chr2:2q36.3
benign
NM_005544.2(IRS1):c.1020C>T (p.Ala340=) single nucleotide variant not provided [RCV000900122] Chr2:226797719 [GRCh38]
Chr2:227662435 [GRCh37]
Chr2:2q36.3
likely benign
NM_005544.2(IRS1):c.3579G>A (p.Gln1193=) single nucleotide variant not provided [RCV000924004] Chr2:226795160 [GRCh38]
Chr2:227659876 [GRCh37]
Chr2:2q36.3
benign
NM_005544.2(IRS1):c.2814T>C (p.Thr938=) single nucleotide variant not provided [RCV000902644] Chr2:226795925 [GRCh38]
Chr2:227660641 [GRCh37]
Chr2:2q36.3
benign
NM_005544.2(IRS1):c.3409G>A (p.Asp1137Asn) single nucleotide variant not provided [RCV000950093] Chr2:226795330 [GRCh38]
Chr2:227660046 [GRCh37]
Chr2:2q36.3
benign
NM_005544.2(IRS1):c.2674A>G (p.Ser892Gly) single nucleotide variant not provided [RCV000900052] Chr2:226796065 [GRCh38]
Chr2:227660781 [GRCh37]
Chr2:2q36.3
benign
NM_005544.2(IRS1):c.1986C>T (p.Tyr662=) single nucleotide variant not provided [RCV000938234] Chr2:226796753 [GRCh38]
Chr2:227661469 [GRCh37]
Chr2:2q36.3
benign
NM_005544.2(IRS1):c.1458T>C (p.Ser486=) single nucleotide variant not provided [RCV000983642] Chr2:226797281 [GRCh38]
Chr2:227661997 [GRCh37]
Chr2:2q36.3
likely benign
NM_005544.2(IRS1):c.1440C>T (p.Asn480=) single nucleotide variant not provided [RCV000963271] Chr2:226797299 [GRCh38]
Chr2:227662015 [GRCh37]
Chr2:2q36.3
benign
NM_005544.2(IRS1):c.3489A>C (p.Pro1163=) single nucleotide variant not provided [RCV000896469] Chr2:226795250 [GRCh38]
Chr2:227659966 [GRCh37]
Chr2:2q36.3
benign
NM_005544.2(IRS1):c.1143C>T (p.Arg381=) single nucleotide variant not provided [RCV000880079] Chr2:226797596 [GRCh38]
Chr2:227662312 [GRCh37]
Chr2:2q36.3
likely benign
NM_005544.2(IRS1):c.132C>T (p.Leu44=) single nucleotide variant not provided [RCV000964725] Chr2:226798607 [GRCh38]
Chr2:227663323 [GRCh37]
Chr2:2q36.3
benign
NM_005544.2(IRS1):c.2766G>A (p.Arg922=) single nucleotide variant not provided [RCV000960129] Chr2:226795973 [GRCh38]
Chr2:227660689 [GRCh37]
Chr2:2q36.3
benign
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3
pathogenic
NM_005544.2(IRS1):c.1266T>C (p.Asp422=) single nucleotide variant not provided [RCV000960240] Chr2:226797473 [GRCh38]
Chr2:227662189 [GRCh37]
Chr2:2q36.3
benign
NM_005544.2(IRS1):c.158G>A (p.Trp53Ter) single nucleotide variant Type 2 diabetes mellitus [RCV000991374] Chr2:226798581 [GRCh38]
Chr2:227663297 [GRCh37]
Chr2:2q36.3
likely pathogenic
NM_005544.2(IRS1):c.2340G>A (p.Pro780=) single nucleotide variant not provided [RCV000887959] Chr2:226796399 [GRCh38]
Chr2:227661115 [GRCh37]
Chr2:2q36.3
benign
NM_005544.2(IRS1):c.2358T>C (p.His786=) single nucleotide variant not provided [RCV000954391] Chr2:226796381 [GRCh38]
Chr2:227661097 [GRCh37]
Chr2:2q36.3
benign
NM_005544.2(IRS1):c.2004C>T (p.Ser668=) single nucleotide variant not provided [RCV000953703] Chr2:226796735 [GRCh38]
Chr2:227661451 [GRCh37]
Chr2:2q36.3
benign
NM_005544.2(IRS1):c.2061C>T (p.Asn687=) single nucleotide variant not provided [RCV000917783] Chr2:226796678 [GRCh38]
Chr2:227661394 [GRCh37]
Chr2:2q36.3
likely benign
GRCh37/hg19 2q36.2-36.3(chr2:226027074-229110812)x1 copy number loss not provided [RCV001259188] Chr2:226027074..229110812 [GRCh37]
Chr2:2q36.2-36.3
likely pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic
NM_005544.3(IRS1):c.3406G>A (p.Glu1136Lys) single nucleotide variant not provided [RCV001357897] Chr2:226795333 [GRCh38]
Chr2:227660049 [GRCh37]
Chr2:2q36.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6125 AgrOrtholog
COSMIC IRS1 COSMIC
Ensembl Genes ENSG00000169047 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000304895 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000305123 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000169047 GTEx
HGNC ID HGNC:6125 ENTREZGENE
Human Proteome Map IRS1 Human Proteome Map
InterPro IRS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IRS_PTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot
KEGG Report hsa:3667 UniProtKB/Swiss-Prot
NCBI Gene 3667 ENTREZGENE
OMIM 125853 OMIM
  147545 OMIM
PANTHER PTHR10614 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam IRS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00169 UniProtKB/Swiss-Prot
PharmGKB IRS1 RGD, PharmGKB
PRINTS INSULINRSI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE IRS_PTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_DOMAIN UniProtKB/Swiss-Prot
SMART PTBI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot
UniProt A0A024R499 ENTREZGENE
  IRS1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  W0KMC7_HUMAN UniProtKB/TrEMBL
  W0KR29_HUMAN UniProtKB/TrEMBL
  W0KRH6_HUMAN UniProtKB/TrEMBL