IL2RA (interleukin 2 receptor subunit alpha) - Rat Genome Database
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Gene: IL2RA (interleukin 2 receptor subunit alpha) Homo sapiens
Analyze
Symbol: IL2RA
Name: interleukin 2 receptor subunit alpha
RGD ID: 735947
HGNC Page HGNC
Description: Contributes to interleukin-2 receptor activity. Involved in regulation of T cell tolerance induction. Predicted to localize to interleukin-2 receptor complex. Implicated in immunodeficiency 41; lymphopenia; multiple sclerosis; type 1 diabetes mellitus; and type 1 diabetes mellitus 10. Biomarker of COVID-19; Hantavirus hemorrhagic fever with renal syndrome; and idiopathic pulmonary fibrosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CD25; IDDM10; IL-2 receptor subunit alpha; IL-2-RA; IL-2R subunit alpha; IL2-RA; IL2R; IMD41; insulin-dependent diabetes mellitus 10; interleukin 2 receptor, alpha; interleukin 2 receptor, alpha chain; interleukin-2 receptor subunit alpha; p55; TAC antigen; TCGFR
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
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for COVID-19 prognosis.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl106,010,689 - 6,062,370 (-)EnsemblGRCh38hg38GRCh38
GRCh38106,010,689 - 6,062,367 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37106,052,657 - 6,104,333 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36106,093,512 - 6,144,278 (-)NCBINCBI36hg18NCBI36
Build 34106,093,511 - 6,144,278NCBI
Celera105,982,579 - 6,033,743 (-)NCBI
Cytogenetic Map10p15.1NCBI
HuRef105,979,490 - 6,030,662 (-)NCBIHuRef
CHM1_1106,052,649 - 6,103,793 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(D-Ala(2)-mephe(4)-gly-ol(5))enkephalin  (ISO)
1-chloro-2,4-dinitrobenzene  (ISO)
1-naphthaleneacetic acid  (ISO)
1-nitropropane  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-D  (ISO)
2,4-diaminotoluene  (ISO)
2,6-diaminotoluene  (ISO)
2-acetamidofluorene  (ISO)
2-nitro-p-phenylenediamine  (ISO)
2-nitropropane  (ISO)
2-tert-butylhydroquinone  (EXP,ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
4-acetylaminofluorene  (ISO)
4-nitro-1,2-phenylenediamine  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
alpha-hexylcinnamaldehyde  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
asbestos  (EXP)
atorvastatin calcium  (EXP)
atrazine  (ISO)
bathocuproine disulfonic acid  (ISO)
beclomethasone  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
bucladesine  (EXP,ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
capsiate  (EXP)
carbon nanotube  (EXP,ISO)
clobetasol  (ISO)
clozapine  (EXP)
cocaine  (ISO)
colforsin daropate hydrochloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
cortisol  (ISO)
curcumin  (ISO)
cyclosporin A  (EXP,ISO)
dexamethasone  (EXP,ISO)
dichloroacetic acid  (EXP)
erlotinib hydrochloride  (ISO)
ethanol  (ISO)
flavonoids  (EXP)
folic acid  (EXP)
fragrance  (EXP)
gentamycin  (ISO)
hexachlorobenzene  (ISO)
indole-3-acetic acid  (ISO)
ionomycin  (EXP,ISO)
isopentenyl diphosphate  (EXP)
lactacystin  (ISO)
lipopolysaccharide  (ISO)
mercury dichloride  (ISO)
mesalamine  (EXP)
methotrexate  (EXP)
N-(4-aminobutyl)-5-chloronaphthalene-2-sulfonamide  (EXP)
N-acetyl-L-cysteine  (ISO)
nickel atom  (EXP)
nonanoic acid  (ISO)
o-anisidine  (EXP)
ouabain  (EXP)
paracetamol  (ISO)
PCB138  (ISO)
Pentoxifylline  (EXP,ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
phthalaldehyde  (ISO)
pimecrolimus  (EXP)
procyanidin B3  (ISO)
propofol  (EXP)
prostaglandin E2  (EXP)
prostaglandin F2alpha  (ISO)
prostratin  (EXP)
resveratrol  (ISO)
silicon dioxide  (ISO)
silver atom  (EXP)
silver(0)  (EXP)
simvastatin  (EXP)
sirolimus  (EXP)
sodium arsenite  (EXP)
sulfasalazine  (EXP)
tacrolimus hydrate  (ISO)
tetrachloromethane  (ISO)
tetrathiomolybdate(2-)  (EXP,ISO)
theophylline  (EXP)
thiopental  (EXP)
toluene 2,4-diisocyanate  (ISO)
Tributyltin oxide  (ISO)
trichloroacetic acid  (EXP)
trichloroethene  (EXP)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
tungsten  (ISO)
valproic acid  (EXP,ISO)
WR-1065  (EXP)
zalcitabine  (EXP)
zidovudine  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. Alcina A, etal., PLoS One. 2009;4(1):e4137. Epub 2009 Jan 6.
2. Chen L, etal., Zhonghua Jie He He Hu Xi Za Zhi. 2020 Mar 12;43(3):203-208. doi: 10.3760/cma.j.issn.1001-0939.2020.03.013.
3. Desai B, etal., Exp Lung Res. 2011 May;37(4):227-38. Epub 2011 Feb 11.
4. Easterbrook JD, etal., Proc Natl Acad Sci U S A. 2007 Sep 25;104(39):15502-7. Epub 2007 Sep 18.
5. Fulton RB, etal., J Immunol. 2010 Aug 15;185(4):2382-92. Epub 2010 Jul 16.
6. GOA_HUMAN data from the GO Consortium
7. Hou H, etal., Clin Exp Immunol. 2020 Jul;201(1):76-84. doi: 10.1111/cei.13450. Epub 2020 May 15.
8. Kawasaki E, etal., J Clin Endocrinol Metab. 2009 Mar;94(3):947-52. Epub 2008 Dec 23.
9. Liu F, etal., PLoS One. 2010 Nov 3;5(11):e15404.
10. Liu Y, etal., Viral Immunol. 2020 Apr 10. doi: 10.1089/vim.2020.0062.
11. Ma J, etal., J Allergy Clin Immunol. 2011 Jun;127(6):1447-56.e6. Epub 2011 Mar 4.
12. Maier LM, etal., PLoS Genet. 2009 Jan;5(1):e1000322. Epub 2009 Jan 2.
13. OMIM Disease Annotation Pipeline
14. Pipeline to import KEGG annotations from KEGG into RGD
15. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
16. Preston JA, etal., Eur Respir J. 2011 Jan;37(1):53-64. Epub 2010 Jun 4.
17. Rasmuson J, etal., Chest. 2011 Mar 24.
18. Reed P, etal., Hum Mol Genet 1997 Jul;6(7):1011-6.
19. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
20. RGD automated import pipeline for gene-chemical interactions
21. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
22. Sharfe N, etal., Proc Natl Acad Sci U S A. 1997 Apr 1;94(7):3168-71.
23. Thessen Hedreul M, etal., J Neuroimmunol. 2009 May 29;210(1-2):30-9. Epub 2009 Mar 9.
24. Ugrasbul F, etal., Pediatr Diabetes. 2008 Dec;9(6):596-601. Epub 2008 May 21.
Additional References at PubMed
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PMID:3097520   PMID:3134887   PMID:3135323   PMID:3925551   PMID:6090948   PMID:6090949   PMID:6096720   PMID:7529123   PMID:7539755   PMID:7588634   PMID:7734194   PMID:7853525  
PMID:7862168   PMID:7903128   PMID:8072542   PMID:8072544   PMID:8098618   PMID:8125298   PMID:8364583   PMID:8493579   PMID:8530186   PMID:8752938   PMID:8896456   PMID:8943338  
PMID:9203962   PMID:9223324   PMID:9268307   PMID:9341758   PMID:9637477   PMID:10602027   PMID:10815800   PMID:10825200   PMID:10848593   PMID:11416131   PMID:11485747   PMID:11856346  
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PMID:18978792   PMID:19019335   PMID:19034005   PMID:19073967   PMID:19077408   PMID:19116909   PMID:19139102   PMID:19141347   PMID:19155502   PMID:19155519   PMID:19192224   PMID:19231135  
PMID:19240061   PMID:19258923   PMID:19264985   PMID:19265545   PMID:19289595   PMID:19303058   PMID:19327240   PMID:19375175   PMID:19375249   PMID:19377213   PMID:19430480   PMID:19447046  
PMID:19471255   PMID:19499289   PMID:19505389   PMID:19506219   PMID:19522766   PMID:19523791   PMID:19525953   PMID:19525955   PMID:19527514   PMID:19565500   PMID:19637754   PMID:19664391  
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PMID:19879194   PMID:19913121   PMID:19923221   PMID:19951265   PMID:19956099   PMID:19956753   PMID:20032294   PMID:20033399   PMID:20063526   PMID:20140262   PMID:20164820   PMID:20179739  
PMID:20203524   PMID:20213609   PMID:20219786   PMID:20224778   PMID:20237496   PMID:20346270   PMID:20362271   PMID:20368992   PMID:20378605   PMID:20388015   PMID:20403730   PMID:20410501  
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PMID:24388013   PMID:24390342   PMID:24412607   PMID:24449572   PMID:24462799   PMID:24467668   PMID:24495362   PMID:24554482   PMID:24572742   PMID:24634493   PMID:24646167   PMID:24648607  
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PMID:26588180   PMID:26707936   PMID:26721345   PMID:26765264   PMID:27087256   PMID:27211553   PMID:27288719   PMID:27306531   PMID:27431260   PMID:27466555   PMID:27556155   PMID:27560779  
PMID:27643478   PMID:27651429   PMID:27876533   PMID:27936140   PMID:28031121   PMID:28077880   PMID:28081636   PMID:28097942   PMID:28118317   PMID:28126963   PMID:28207945   PMID:28230853  
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PMID:30096258   PMID:30352019   PMID:30540075   PMID:30550585   PMID:30598511   PMID:30663116   PMID:30668930   PMID:30790452   PMID:30988066   PMID:31134763   PMID:31171000   PMID:31183777  
PMID:31242590   PMID:31279323   PMID:31366819   PMID:31630080   PMID:31886294   PMID:31943147   PMID:32081398   PMID:32319410   PMID:32385519   PMID:32470153   PMID:32470973   PMID:32513989  
PMID:32526372   PMID:32687530   PMID:32738499  


Genomics

Candidate Gene Status
IL2RA is a candidate Gene for QTL INSUL41_H
Comparative Map Data
IL2RA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl106,010,689 - 6,062,370 (-)EnsemblGRCh38hg38GRCh38
GRCh38106,010,689 - 6,062,367 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37106,052,657 - 6,104,333 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36106,093,512 - 6,144,278 (-)NCBINCBI36hg18NCBI36
Build 34106,093,511 - 6,144,278NCBI
Celera105,982,579 - 6,033,743 (-)NCBI
Cytogenetic Map10p15.1NCBI
HuRef105,979,490 - 6,030,662 (-)NCBIHuRef
CHM1_1106,052,649 - 6,103,793 (-)NCBICHM1_1
Il2ra
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39211,647,603 - 11,698,005 (+)NCBIGRCm39mm39
GRCm38211,642,792 - 11,693,194 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl211,642,807 - 11,693,193 (+)EnsemblGRCm38mm10GRCm38
MGSCv37211,564,419 - 11,614,821 (+)NCBIGRCm37mm9NCBIm37
MGSCv36211,560,703 - 11,611,044 (+)NCBImm8
Celera211,560,200 - 11,610,847 (+)NCBICelera
Cytogenetic Map2A1NCBI
cM Map28.91NCBI
Il2ra
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01770,500,672 - 70,547,929 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1770,499,083 - 70,548,071 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01772,204,467 - 72,250,556 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41778,050,491 - 78,097,802 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11778,061,323 - 78,108,635 (-)NCBI
Celera1766,355,852 - 66,402,955 (-)NCBICelera
Cytogenetic Map17q12.2NCBI
RH 3.4 Map17636.4RGD
Il2ra
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542122,641,511 - 22,694,913 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542122,642,004 - 22,694,729 (-)NCBIChiLan1.0ChiLan1.0
IL2RA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1106,037,664 - 6,086,018 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0106,053,549 - 6,103,863 (-)NCBIMhudiblu_PPA_v0panPan3
IL2RA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl229,894,125 - 29,944,643 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1229,892,130 - 29,948,926 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Il2ra
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049364848,514,333 - 8,555,392 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IL2RA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1064,948,552 - 65,001,173 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11064,948,149 - 65,001,320 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21071,153,916 - 71,162,729 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IL2RA
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl96,141,430 - 6,149,447 (-)Ensembl
ChlSab1.196,134,961 - 6,187,731 (-)NCBI
Il2ra
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624775927,337 - 991,062 (-)NCBI

Position Markers
STS-X01057  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37106,054,611 - 6,054,815UniSTSGRCh37
Build 36106,094,617 - 6,094,821RGDNCBI36
Celera105,984,531 - 5,984,735RGD
Cytogenetic Map10p15-p14UniSTS
HuRef105,981,442 - 5,981,646UniSTS
GeneMap99-GB4 RH Map1049.9UniSTS
RH27239  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37106,077,404 - 6,077,516UniSTSGRCh37
GRCh371668,294,843 - 68,294,949UniSTSGRCh37
Build 36106,117,410 - 6,117,522RGDNCBI36
Celera106,007,291 - 6,007,403RGD
Celera1652,803,336 - 52,803,442UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map16q22.1UniSTS
HuRef106,004,200 - 6,004,312UniSTS
HuRef1654,167,841 - 54,167,947UniSTS
SHGC-85106  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37106,087,714 - 6,087,984UniSTSGRCh37
Build 36106,127,720 - 6,127,990RGDNCBI36
Celera106,017,608 - 6,017,878RGD
Cytogenetic Map10p15-p14UniSTS
HuRef106,014,526 - 6,014,796UniSTS
TNG Radiation Hybrid Map103095.0UniSTS
GDB:193868  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37106,104,316 - 6,104,457UniSTSGRCh37
Build 36106,144,322 - 6,144,463RGDNCBI36
Celera106,033,726 - 6,033,867RGD
Cytogenetic Map10p15-p14UniSTS
HuRef106,030,645 - 6,030,787UniSTS
SHGC-148218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37106,063,334 - 6,063,631UniSTSGRCh37
Build 36106,103,340 - 6,103,637RGDNCBI36
Celera105,993,253 - 5,993,550RGD
Cytogenetic Map10p15-p14UniSTS
HuRef105,990,164 - 5,990,461UniSTS
TNG Radiation Hybrid Map103161.0UniSTS
STS-X03133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37106,066,226 - 6,066,410UniSTSGRCh37
Build 36106,106,232 - 6,106,416RGDNCBI36
Celera105,996,138 - 5,996,322RGD
Cytogenetic Map10p15-p14UniSTS
HuRef105,993,056 - 5,993,240UniSTS
GeneMap99-GB4 RH Map1054.16UniSTS
NCBI RH Map10112.5UniSTS
PMC85880P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37106,104,188 - 6,104,466UniSTSGRCh37
Build 36106,144,194 - 6,144,472RGDNCBI36
Celera106,033,598 - 6,033,876RGD
Cytogenetic Map10p15-p14UniSTS
HuRef106,030,517 - 6,030,796UniSTS
IL2RA_767  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37106,053,980 - 6,054,844UniSTSGRCh37
Build 36106,093,986 - 6,094,850RGDNCBI36
Celera105,983,900 - 5,984,764RGD
HuRef105,980,811 - 5,981,675UniSTS
RH11124  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37106,054,634 - 6,054,888UniSTSGRCh37
Build 36106,094,640 - 6,094,894RGDNCBI36
Celera105,984,554 - 5,984,808RGD
Cytogenetic Map10p15-p14UniSTS
HuRef105,981,465 - 5,981,719UniSTS
GeneMap99-GB4 RH Map1054.16UniSTS
NCBI RH Map10112.5UniSTS
D22S296  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map20q13.32UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1512
Count of miRNA genes:736
Interacting mature miRNAs:839
Transcripts:ENST00000256876, ENST00000379954, ENST00000379959, ENST00000447847
Prediction methods:Microtar, Miranda, Rnahybrid
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 pharyngeal arch
High 4
Medium 90 35 23 5 558 6 7 2 6 14 27 56 62 1
Low 1505 1472 1191 254 1193 165 652 641 345 216 381 1269 90 1 741 215 2 2
Below cutoff 720 1296 453 316 136 241 3096 1366 2053 129 880 78 74 397 2241

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF008556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY563103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BN000945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD701954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR996090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI573910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA738831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K03122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M14098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M15864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M16285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U57613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X01057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X03131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X03138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000256876   ⟹   ENSP00000256876
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl106,012,797 - 6,062,290 (-)Ensembl
RefSeq Acc Id: ENST00000379954   ⟹   ENSP00000369287
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl106,012,071 - 6,062,309 (-)Ensembl
RefSeq Acc Id: ENST00000379959   ⟹   ENSP00000369293
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl106,010,689 - 6,062,367 (-)Ensembl
RefSeq Acc Id: ENST00000447847   ⟹   ENSP00000402024
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl106,019,453 - 6,026,001 (-)Ensembl
RefSeq Acc Id: ENST00000644262
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl106,039,400 - 6,062,370 (-)Ensembl
RefSeq Acc Id: ENST00000649218
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl106,010,715 - 6,020,339 (-)Ensembl
RefSeq Acc Id: NM_000417   ⟹   NP_000408
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38106,010,689 - 6,062,367 (-)NCBI
GRCh37106,052,657 - 6,104,333 (-)ENTREZGENE
Build 36106,093,512 - 6,144,278 (-)NCBI Archive
HuRef105,979,490 - 6,030,662 (-)ENTREZGENE
CHM1_1106,052,649 - 6,103,793 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001308242   ⟹   NP_001295171
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38106,010,689 - 6,062,367 (-)NCBI
CHM1_1106,052,649 - 6,103,793 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001308243   ⟹   NP_001295172
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38106,010,689 - 6,062,367 (-)NCBI
CHM1_1106,052,649 - 6,103,793 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000408   ⟸   NM_000417
- Peptide Label: isoform 1 precursor
- UniProtKB: P01589 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001295172   ⟸   NM_001308243
- Peptide Label: isoform 3 precursor
- UniProtKB: P01589 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001295171   ⟸   NM_001308242
- Peptide Label: isoform 2 precursor
- UniProtKB: P01589 (UniProtKB/Swiss-Prot),   Q5W005 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000256876   ⟸   ENST00000256876
RefSeq Acc Id: ENSP00000369293   ⟸   ENST00000379959
RefSeq Acc Id: ENSP00000369287   ⟸   ENST00000379954
RefSeq Acc Id: ENSP00000402024   ⟸   ENST00000447847
Protein Domains
Sushi

Promoters
RGD ID:7216931
Promoter ID:EPDNEW_H14206
Type:initiation region
Name:IL2RA_1
Description:interleukin 2 receptor subunit alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38106,062,367 - 6,062,427EPDNEW
RGD ID:6787784
Promoter ID:HG_KWN:8485
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:UC001IJA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36106,107,811 - 6,108,812 (-)MPROMDB
RGD ID:6787786
Promoter ID:HG_KWN:8487
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:ENST00000256876,   ENST00000397240,   ENST00000397243,   OTTHUMT00000046627,   OTTHUMT00000046629,   UC009XIH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36106,144,081 - 6,144,581 (-)MPROMDB
RGD ID:6850204
Promoter ID:EP11143
Type:single initiation site
Name:HS_IL2RA_2
Description:Interleukin-2 receptor, IL2RA gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #2 of 2; 5' exon 1; site 2.; see alsoEP11142  
Experiment Methods:Nuclease protection; Sequencing of a full-length cDNA; Primer extension; Nuclease protection; transfected or transformed cells
Regulation:T (repressed by or weakly expressed in) cells; (induced by or strongly expressed in) antigen, (induced by or strongly expressed in) mitogen
Position:
Human AssemblyChrPosition (strand)Source
Build 36106,144,278 - 6,144,338EPD
RGD ID:6850202
Promoter ID:EP11142
Type:single initiation site
Name:HS_IL2RA_1
Description:Interleukin-2 receptor, IL2RA gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #1 of 2; 5' exon 1; site 1.; see alsoEP11143  
Experiment Methods:Nuclease protection; Primer extension with homologous sequence ladder; Nuclease protection; transfected or transformed cells
Regulation:T (repressed by or weakly expressed in) cells; (induced by or strongly expressed in) antigen, (induced by or strongly expressed in) mitogen
Position:
Human AssemblyChrPosition (strand)Source
Build 36106,144,337 - 6,144,397EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000417.2(IL2RA):c.62_64+1del microsatellite Interleukin 2 receptor, alpha, deficiency of [RCV000015780] Chr10:6062087..6062090 [GRCh38]
Chr10:6104050..6104053 [GRCh37]
Chr10:10p15.1		 pathogenic
NC_000010.10:g.6122009T>A single nucleotide variant Diabetes mellitus, insulin-dependent, 10 [RCV000015782] Chr10:6080046 [GRCh38]
Chr10:6122009 [GRCh37]
Chr10:10p15.1		 pathogenic|association
GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3 copy number gain See cases [RCV000051132] Chr10:90421..6769994 [GRCh38]
Chr10:224406..6811956 [GRCh37]
Chr10:126361..6851962 [NCBI36]
Chr10:10p15.3-14		 pathogenic
GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3 copy number gain See cases [RCV000051107] Chr10:90421..8442783 [GRCh38]
Chr10:224406..8484746 [GRCh37]
Chr10:126361..8524752 [NCBI36]
Chr10:10p15.3-14		 pathogenic
GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1 copy number loss See cases [RCV000052493] Chr10:69260..6209368 [GRCh38]
Chr10:224406..6251331 [GRCh37]
Chr10:105200..6291337 [NCBI36]
Chr10:10p15.3-15.1		 pathogenic
GRCh38/hg38 10p15.3-13(chr10:90421-15569528)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052496]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052496]|See cases [RCV000052496] Chr10:90421..15569528 [GRCh38]
Chr10:224406..15611527 [GRCh37]
Chr10:126361..15651533 [NCBI36]
Chr10:10p15.3-13		 pathogenic
GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1 copy number loss See cases [RCV000052500] Chr10:4802753..16823491 [GRCh38]
Chr10:4844945..16865490 [GRCh37]
Chr10:4834945..16905496 [NCBI36]
Chr10:10p15.1-13		 pathogenic
GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3 copy number gain See cases [RCV000053507] Chr10:69261..19184047 [GRCh38]
Chr10:224406..19472976 [GRCh37]
Chr10:105201..19512982 [NCBI36]
Chr10:10p15.3-12.31		 pathogenic
GRCh38/hg38 10p15.3-12.2(chr10:90221-22567425)x3 copy number gain See cases [RCV000053508] Chr10:90221..22567425 [GRCh38]
Chr10:224406..22856354 [GRCh37]
Chr10:126161..22896360 [NCBI36]
Chr10:10p15.3-12.2		 pathogenic
GRCh38/hg38 10p15.3-14(chr10:90421-7085100)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053511]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053511]|See cases [RCV000053511] Chr10:90421..7085100 [GRCh38]
Chr10:224406..7127062 [GRCh37]
Chr10:126361..7167068 [NCBI36]
Chr10:10p15.3-14		 pathogenic
GRCh38/hg38 10p15.3-12.1(chr10:90421-29058318)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|See cases [RCV000053512] Chr10:90421..29058318 [GRCh38]
Chr10:224406..29347247 [GRCh37]
Chr10:126361..29387253 [NCBI36]
Chr10:10p15.3-12.1		 pathogenic
NM_000417.2(IL2RA):c.421C>T (p.His141Tyr) single nucleotide variant Malignant melanoma [RCV000068985] Chr10:6021640 [GRCh38]
Chr10:6063603 [GRCh37]
Chr10:6103609 [NCBI36]
Chr10:10p15.1		 not provided
NM_000417.2(IL2RA):c.64G>A (p.Glu22Lys) single nucleotide variant Malignant melanoma [RCV000068988] Chr10:6062088 [GRCh38]
Chr10:6104051 [GRCh37]
Chr10:6144057 [NCBI36]
Chr10:10p15.1		 not provided
NM_000417.2(IL2RA):c.717C>A (p.Tyr239Ter) single nucleotide variant Malignant melanoma [RCV000062049] Chr10:6019438 [GRCh38]
Chr10:6061401 [GRCh37]
Chr10:6101407 [NCBI36]
Chr10:10p15.1		 not provided
NC_000010.11:g.6072697C>A single nucleotide variant TYPE 1 DIABETES MELLITUS, INSULIN-DEPENDENT, 10 [RCV000015781] Chr10:6072697 [GRCh38]
Chr10:6114660 [GRCh37]
Chr10:10p15.1		 pathogenic|association
NM_000417.2(IL2RA):c.711A>G (p.Thr237=) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000363300]|not specified [RCV000299953] Chr10:6019444 [GRCh38]
Chr10:6061407 [GRCh37]
Chr10:10p15.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3 copy number gain See cases [RCV000135340] Chr10:73856..12815915 [GRCh38]
Chr10:119796..12857914 [GRCh37]
Chr10:109796..12897920 [NCBI36]
Chr10:10p15.3-13		 pathogenic
GRCh38/hg38 10p15.1-14(chr10:4605831-7403265)x1 copy number loss See cases [RCV000135820] Chr10:4605831..7403265 [GRCh38]
Chr10:4648023..7445227 [GRCh37]
Chr10:4638023..7485233 [NCBI36]
Chr10:10p15.1-14		 uncertain significance
GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3 copy number gain See cases [RCV000135533] Chr10:90421..11713049 [GRCh38]
Chr10:224406..11755048 [GRCh37]
Chr10:126361..11795054 [NCBI36]
Chr10:10p15.3-14		 pathogenic|uncertain significance
GRCh38/hg38 10p15.3-13(chr10:70478-15373336)x3 copy number gain See cases [RCV000137384] Chr10:70478..15373336 [GRCh38]
Chr10:224406..15415335 [GRCh37]
Chr10:106418..15455341 [NCBI36]
Chr10:10p15.3-13		 uncertain significance
GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3 copy number gain See cases [RCV000138428] Chr10:90205..26339978 [GRCh38]
Chr10:224406..26628907 [GRCh37]
Chr10:126145..26668913 [NCBI36]
Chr10:10p15.3-12.1		 pathogenic
GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1 copy number loss See cases [RCV000138960] Chr10:70478..13736564 [GRCh38]
Chr10:224406..13778564 [GRCh37]
Chr10:106418..13818570 [NCBI36]
Chr10:10p15.3-13		 pathogenic
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 copy number gain See cases [RCV000141497] Chr10:4604734..48074662 [GRCh38]
Chr10:4646926..47531169 [GRCh37]
Chr10:4636926..47125152 [NCBI36]
Chr10:10p15.1-q11.22		 benign
GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3 copy number gain See cases [RCV000142292] Chr10:54086..13205916 [GRCh38]
Chr10:100026..13247916 [GRCh37]
Chr10:90026..13287922 [NCBI36]
Chr10:10p15.3-13		 pathogenic
GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3 copy number gain See cases [RCV000142241] Chr10:1601172..9203729 [GRCh38]
Chr10:1643367..9245692 [GRCh37]
Chr10:1633367..9285698 [NCBI36]
Chr10:10p15.3-14		 likely pathogenic
GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1 copy number loss See cases [RCV000143703] Chr10:54086..19336980 [GRCh38]
Chr10:100026..19625909 [GRCh37]
Chr10:90026..19665915 [NCBI36]
Chr10:10p15.3-12.31		 pathogenic|likely pathogenic
NM_000417.2(IL2RA):c.301C>T (p.Gln101Ter) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000185639] Chr10:6024310 [GRCh38]
Chr10:6066273 [GRCh37]
Chr10:10p15.1		 pathogenic
NM_000417.2(IL2RA):c.692dup (p.Thr232fs) duplication Interleukin 2 receptor, alpha, deficiency of [RCV000185640] Chr10:6019462..6019463 [GRCh38]
Chr10:6061425..6061426 [GRCh37]
Chr10:10p15.1		 pathogenic
NM_001308243.2(IL2RA):c.368-409G>A single nucleotide variant not provided [RCV000178765] Chr10:6019908 [GRCh38]
Chr10:6061871 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_001308242.2(IL2RA):c.368-1623G>A single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000185641] Chr10:6021564 [GRCh38]
Chr10:6063527 [GRCh37]
Chr10:10p15.1		 pathogenic
NM_000417.2(IL2RA):c.122A>C (p.Tyr41Ser) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000185642] Chr10:6025968 [GRCh38]
Chr10:6067931 [GRCh37]
Chr10:10p15.1		 pathogenic
GRCh37/hg19 10p15.3-14(chr10:2593113-8484746)x1 copy number loss See cases [RCV000239795] Chr10:2593113..8484746 [GRCh37]
Chr10:10p15.3-14		 pathogenic
NM_000417.2(IL2RA):c.457G>A (p.Val153Ile) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000320029]|not specified [RCV000289474] Chr10:6021604 [GRCh38]
Chr10:6063567 [GRCh37]
Chr10:10p15.1		 benign|likely benign
NM_000417.2(IL2RA):c.439A>T (p.Met147Leu) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000526682] Chr10:6021622 [GRCh38]
Chr10:6063585 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.787C>T (p.Arg263Trp) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000284134]|not provided [RCV000994347] Chr10:6018060 [GRCh38]
Chr10:6060023 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.*1672A>T single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000320848] Chr10:6011200 [GRCh38]
Chr10:6053163 [GRCh37]
Chr10:10p15.1		 benign|likely benign
NM_000417.2(IL2RA):c.*677G>A single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000369552] Chr10:6012195 [GRCh38]
Chr10:6054158 [GRCh37]
Chr10:10p15.1		 benign|likely benign
NM_000417.2(IL2RA):c.*1026G>A single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000302830] Chr10:6011846 [GRCh38]
Chr10:6053809 [GRCh37]
Chr10:10p15.1		 likely benign|uncertain significance
NM_000417.2(IL2RA):c.757G>A (p.Val253Ile) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000346157] Chr10:6018090 [GRCh38]
Chr10:6060053 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.367+7G>C single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000323644]|not specified [RCV000454685] Chr10:6024237 [GRCh38]
Chr10:6066200 [GRCh37]
Chr10:10p15.1		 benign
NM_000417.2(IL2RA):c.*107C>T single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000372171] Chr10:6012765 [GRCh38]
Chr10:6054728 [GRCh37]
Chr10:10p15.1		 likely benign|uncertain significance
NM_000417.2(IL2RA):c.753C>T (p.Ile251=) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000398793] Chr10:6018094 [GRCh38]
Chr10:6060057 [GRCh37]
Chr10:10p15.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000417.2(IL2RA):c.*1880C>G single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000306114] Chr10:6010992 [GRCh38]
Chr10:6052955 [GRCh37]
Chr10:10p15.1		 benign|likely benign
NM_000417.2(IL2RA):c.732C>T (p.Ala244=) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000306478] Chr10:6018115 [GRCh38]
Chr10:6060078 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.*444T>A single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000375454] Chr10:6012428 [GRCh38]
Chr10:6054391 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.*70G>A single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000400770] Chr10:6012802 [GRCh38]
Chr10:6054765 [GRCh37]
Chr10:10p15.1		 benign|likely benign
NM_000417.2(IL2RA):c.*1026G>T single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000400958] Chr10:6011846 [GRCh38]
Chr10:6053809 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.*889G>A single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000308904] Chr10:6011983 [GRCh38]
Chr10:6053946 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.*1994G>T single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000355184] Chr10:6010878 [GRCh38]
Chr10:6052841 [GRCh37]
Chr10:10p15.1		 benign|likely benign
NM_000417.2(IL2RA):c.*676C>T single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000275033] Chr10:6012196 [GRCh38]
Chr10:6054159 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.*1461T>C single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000332829] Chr10:6011411 [GRCh38]
Chr10:6053374 [GRCh37]
Chr10:10p15.1		 benign
NM_000417.2(IL2RA):c.*1549C>T single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000381458] Chr10:6011323 [GRCh38]
Chr10:6053286 [GRCh37]
Chr10:10p15.1		 benign
NM_000417.2(IL2RA):c.*1974C>T single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000260367] Chr10:6010898 [GRCh38]
Chr10:6052861 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.*767C>T single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000333666] Chr10:6012105 [GRCh38]
Chr10:6054068 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.*1008G>A single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000357957] Chr10:6011864 [GRCh38]
Chr10:6053827 [GRCh37]
Chr10:10p15.1		 benign|likely benign
NM_000417.2(IL2RA):c.367+12A>T single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000261317] Chr10:6024232 [GRCh38]
Chr10:6066195 [GRCh37]
Chr10:10p15.1		 benign
NM_000417.2(IL2RA):c.*1061C>T single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000278090] Chr10:6011811 [GRCh38]
Chr10:6053774 [GRCh37]
Chr10:10p15.1		 likely benign|uncertain significance
NM_000417.2(IL2RA):c.516C>T (p.His172=) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000262595] Chr10:6021545 [GRCh38]
Chr10:6063508 [GRCh37]
Chr10:10p15.1		 benign
NM_000417.2(IL2RA):c.656-14T>A single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000314512] Chr10:6019513 [GRCh38]
Chr10:6061476 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.*1186C>T single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000336762] Chr10:6011686 [GRCh38]
Chr10:6053649 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.*1772A>C single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000360891] Chr10:6011100 [GRCh38]
Chr10:6053063 [GRCh37]
Chr10:10p15.1		 likely benign|uncertain significance
NM_000417.3(IL2RA):c.84G>A (p.Pro28=) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000265094]|not specified [RCV000455255] Chr10:6026006 [GRCh38]
Chr10:6067969 [GRCh37]
Chr10:10p15.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000417.2(IL2RA):c.*888C>T single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000363551] Chr10:6011984 [GRCh38]
Chr10:6053947 [GRCh37]
Chr10:10p15.1		 likely benign|uncertain significance
NM_000417.2(IL2RA):c.*1702C>T single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000265776] Chr10:6011170 [GRCh38]
Chr10:6053133 [GRCh37]
Chr10:10p15.1		 benign
NM_000417.2(IL2RA):c.*1267G>A single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000281841] Chr10:6011605 [GRCh38]
Chr10:6053568 [GRCh37]
Chr10:10p15.1		 benign
NM_000417.2(IL2RA):c.669G>A (p.Gln223=) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000392457] Chr10:6019486 [GRCh38]
Chr10:6061449 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.*2055T>C single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000300083] Chr10:6010817 [GRCh38]
Chr10:6052780 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.*1041C>T single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000342408] Chr10:6011831 [GRCh38]
Chr10:6053794 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.584-6C>T single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000366874] Chr10:6019947 [GRCh38]
Chr10:6061910 [GRCh37]
Chr10:10p15.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000417.2(IL2RA):c.*2108T>G single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000392802] Chr10:6010764 [GRCh38]
Chr10:6052727 [GRCh37]
Chr10:10p15.1		 benign|likely benign
NM_000417.2(IL2RA):c.*969G>A single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000393110] Chr10:6011903 [GRCh38]
Chr10:6053866 [GRCh37]
Chr10:10p15.1		 benign|likely benign
NM_000417.2(IL2RA):c.*414C>T single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000281064] Chr10:6012458 [GRCh38]
Chr10:6054421 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.*1575G>A single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000271727] Chr10:6011297 [GRCh38]
Chr10:6053260 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.*1154_*1158dup duplication Interleukin 2 receptor, alpha, deficiency of [RCV000390310] Chr10:6011713..6011714 [GRCh38]
Chr10:6053676..6053677 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.*884C>T single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000269195] Chr10:6011988 [GRCh38]
Chr10:6053951 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.*672A>G single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000330212] Chr10:6012200 [GRCh38]
Chr10:6054163 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.167G>A (p.Arg56His) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000380637] Chr10:6025923 [GRCh38]
Chr10:6067886 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.*410_*411del deletion Interleukin 2 receptor, alpha, deficiency of [RCV000317477] Chr10:6012461..6012462 [GRCh38]
Chr10:6054424..6054425 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.*1650G>A single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000384812] Chr10:6011222 [GRCh38]
Chr10:6053185 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.*1454A>G single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000385554] Chr10:6011418 [GRCh38]
Chr10:6053381 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.*2178T>A single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000349304] Chr10:6010694 [GRCh38]
Chr10:6052657 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.*103C>T single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000285488] Chr10:6012769 [GRCh38]
Chr10:6054732 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.*1539T>C single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000296603] Chr10:6011333 [GRCh38]
Chr10:6053296 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.-211C>G single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000322520] Chr10:6062362 [GRCh38]
Chr10:6104325 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.427G>A (p.Val143Met) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000353808] Chr10:6021634 [GRCh38]
Chr10:6063597 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.*1574C>T single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000326816] Chr10:6011298 [GRCh38]
Chr10:6053261 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.*93G>A single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000342757] Chr10:6012779 [GRCh38]
Chr10:6054742 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.*2191T>G single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000292241] Chr10:6010681 [GRCh38]
Chr10:6052644 [GRCh37]
Chr10:10p15.1		 benign
NM_000417.2(IL2RA):c.691G>C (p.Glu231Gln) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000641699] Chr10:6019464 [GRCh38]
Chr10:6061427 [GRCh37]
Chr10:10p15.1		 likely benign|uncertain significance
NM_001308243.2(IL2RA):c.368-394C>T single nucleotide variant not provided [RCV000593539] Chr10:6019893 [GRCh38]
Chr10:6061856 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.368-2A>G single nucleotide variant not provided [RCV000593621] Chr10:6021695 [GRCh38]
Chr10:6063658 [GRCh37]
Chr10:10p15.1		 pathogenic
NM_000417.2(IL2RA):c.76G>C (p.Asp26His) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000641698] Chr10:6026014 [GRCh38]
Chr10:6067977 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.193A>G (p.Met65Val) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000641700] Chr10:6025897 [GRCh38]
Chr10:6067860 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.584-8del deletion Diabetes mellitus, insulin-dependent, 10 [RCV000768237]|Interleukin 2 receptor, alpha, deficiency of [RCV000912228] Chr10:6019949 [GRCh38]
Chr10:6061912 [GRCh37]
Chr10:10p15.1		 likely benign|uncertain significance
GRCh37/hg19 10p15.3-14(chr10:136361-8850609)x1 copy number loss See cases [RCV000446357] Chr10:136361..8850609 [GRCh37]
Chr10:10p15.3-14		 pathogenic
GRCh37/hg19 10p15.3-11.23(chr10:100026-30278548)x3 copy number gain See cases [RCV000447131] Chr10:100026..30278548 [GRCh37]
Chr10:10p15.3-11.23		 pathogenic
GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)x3 copy number gain See cases [RCV000445989] Chr10:2116123..8856296 [GRCh37]
Chr10:10p15.3-14		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_000417.2(IL2RA):c.272C>T (p.Thr91Met) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001083317]|not provided [RCV000498899] Chr10:6024339 [GRCh38]
Chr10:6066302 [GRCh37]
Chr10:10p15.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 copy number gain See cases [RCV000510893] Chr10:100026..50961640 [GRCh37]
Chr10:10p15.3-q11.23		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_000417.2(IL2RA):c.64+15308T>A single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000541415] Chr10:6046780 [GRCh38]
Chr10:6088743 [GRCh37]
Chr10:10p15.1		 benign
GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1 copy number loss See cases [RCV000512541] Chr10:100026..12842179 [GRCh37]
Chr10:10p15.3-13		 pathogenic
NM_000417.2(IL2RA):c.517G>A (p.Gly173Arg) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000697789] Chr10:6021544 [GRCh38]
Chr10:6063507 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.297A>T (p.Glu99Asp) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000700724] Chr10:6024314 [GRCh38]
Chr10:6066277 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.700A>G (p.Ile234Val) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000698549] Chr10:6019455 [GRCh38]
Chr10:6061418 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.337A>G (p.Met113Val) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000697017] Chr10:6024274 [GRCh38]
Chr10:6066237 [GRCh37]
Chr10:10p15.1		 uncertain significance
Single allele deletion Hypoparathyroidism-deafness-renal disease syndrome [RCV000735901] Chr10:4689760..19120882 [GRCh37]
Chr10:10p15.1-12.31		 pathogenic
GRCh37/hg19 10p15.1(chr10:5670275-6281215)x3 copy number gain not provided [RCV000737004] Chr10:5670275..6281215 [GRCh37]
Chr10:10p15.1		 benign
Single allele duplication Schizophrenia [RCV000754118] Chr10:3076972..6208037 [GRCh38]
Chr10:10p15.2-15.1		 likely pathogenic
GRCh37/hg19 10p15.3-13(chr10:69083-12887271)x3 copy number gain not provided [RCV000749463] Chr10:69083..12887271 [GRCh37]
Chr10:10p15.3-13		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_000417.3(IL2RA):c.498C>T (p.Ser166=) single nucleotide variant not provided [RCV000927361] Chr10:6021563 [GRCh38]
Chr10:6063526 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.367+9T>A single nucleotide variant not provided [RCV000883514] Chr10:6024235 [GRCh38]
Chr10:6066198 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.788G>A (p.Arg263Gln) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001069141] Chr10:6018059 [GRCh38]
Chr10:6060022 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.256+1G>A single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000779031] Chr10:6025833 [GRCh38]
Chr10:6067796 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.729G>T (p.Val243=) single nucleotide variant not provided [RCV000924922] Chr10:6018118 [GRCh38]
Chr10:6060081 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.357G>A (p.Ala119=) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000886750] Chr10:6024254 [GRCh38]
Chr10:6066217 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.2(IL2RA):c.246C>A (p.Cys82Ter) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000814187] Chr10:6025844 [GRCh38]
Chr10:6067807 [GRCh37]
Chr10:10p15.1		 pathogenic
NM_000417.2(IL2RA):c.256+5_256+13del deletion Interleukin 2 receptor, alpha, deficiency of [RCV000804955] Chr10:6025821..6025829 [GRCh38]
Chr10:6067784..6067792 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.584-12TC[4] microsatellite not provided [RCV000936193] Chr10:6019947..6019948 [GRCh38]
Chr10:6061910..6061911 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.2(IL2RA):c.773G>A (p.Gly258Glu) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000811521] Chr10:6018074 [GRCh38]
Chr10:6060037 [GRCh37]
Chr10:10p15.1		 uncertain significance
GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3 copy number gain not provided [RCV000848062] Chr10:100026..15273144 [GRCh37]
Chr10:10p15.3-13		 pathogenic
NM_000417.2(IL2RA):c.655+3G>A single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000813373] Chr10:6019867 [GRCh38]
Chr10:6061830 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.182G>T (p.Gly61Val) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000807888] Chr10:6025908 [GRCh38]
Chr10:6067871 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.263G>A (p.Arg88Gln) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000794961] Chr10:6024348 [GRCh38]
Chr10:6066311 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.417T>G (p.Ile139Met) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000795201] Chr10:6021644 [GRCh38]
Chr10:6063607 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.332G>A (p.Ser111Asn) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000812221] Chr10:6024279 [GRCh38]
Chr10:6066242 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.547A>G (p.Ile183Val) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000810659] Chr10:6021514 [GRCh38]
Chr10:6063477 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.484G>A (p.Gly162Ser) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000795536] Chr10:6021577 [GRCh38]
Chr10:6063540 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.756C>T (p.Ser252=) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000937319] Chr10:6018091 [GRCh38]
Chr10:6060054 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.100G>A (p.Ala34Thr) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000988324] Chr10:6025990 [GRCh38]
Chr10:6067953 [GRCh37]
Chr10:10p15.1		 likely pathogenic
GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3 copy number gain not provided [RCV000848090] Chr10:100026..15273144 [GRCh37]
Chr10:10p15.3-13		 pathogenic
NM_000417.3(IL2RA):c.499G>A (p.Val167Ile) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001222052] Chr10:6021562 [GRCh38]
Chr10:6063525 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.491C>T (p.Ala164Val) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001223663] Chr10:6021570 [GRCh38]
Chr10:6063533 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.731C>T (p.Ala244Val) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001241523] Chr10:6018116 [GRCh38]
Chr10:6060079 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.180C>T (p.Ser60=) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001225527] Chr10:6025910 [GRCh38]
Chr10:6067873 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*1443G>C single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001108521] Chr10:6011429 [GRCh38]
Chr10:6053392 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*55T>C single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001108604] Chr10:6012817 [GRCh38]
Chr10:6054780 [GRCh37]
Chr10:10p15.1		 benign
NM_000417.3(IL2RA):c.*1643C>A single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001106295] Chr10:6011229 [GRCh38]
Chr10:6053192 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.225C>G (p.Ser75=) single nucleotide variant not provided [RCV000931694] Chr10:6025865 [GRCh38]
Chr10:6067828 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.693G>A (p.Glu231=) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000908066] Chr10:6019462 [GRCh38]
Chr10:6061425 [GRCh37]
Chr10:10p15.1		 likely benign|conflicting interpretations of pathogenicity
NM_000417.3(IL2RA):c.777C>A (p.Leu259=) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000882423] Chr10:6018070 [GRCh38]
Chr10:6060033 [GRCh37]
Chr10:10p15.1		 likely benign|conflicting interpretations of pathogenicity
NM_000417.3(IL2RA):c.456C>T (p.Cys152=) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV000982081] Chr10:6021605 [GRCh38]
Chr10:6063568 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.*1619G>A single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001106296] Chr10:6011253 [GRCh38]
Chr10:6053216 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*752A>G single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001106391] Chr10:6012120 [GRCh38]
Chr10:6054083 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.*513T>C single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001106393] Chr10:6012359 [GRCh38]
Chr10:6054322 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.257-11A>G single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001106479] Chr10:6024365 [GRCh38]
Chr10:6066328 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.693G>C (p.Glu231Asp) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001103424] Chr10:6019462 [GRCh38]
Chr10:6061425 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*1024G>A single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001105261] Chr10:6011848 [GRCh38]
Chr10:6053811 [GRCh37]
Chr10:10p15.1		 benign
NM_000417.3(IL2RA):c.656-11_656-10del microsatellite Interleukin 2 receptor, alpha, deficiency of [RCV000913008] Chr10:6019509..6019510 [GRCh38]
Chr10:6061472..6061473 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.609C>T (p.Pro203=) single nucleotide variant not provided [RCV000935306] Chr10:6019916 [GRCh38]
Chr10:6061879 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.*1044T>C single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001103344] Chr10:6011828 [GRCh38]
Chr10:6053791 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*963A>C single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001105262] Chr10:6011909 [GRCh38]
Chr10:6053872 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*2144T>G single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001105168] Chr10:6010728 [GRCh38]
Chr10:6052691 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*2131A>G single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001105169] Chr10:6010741 [GRCh38]
Chr10:6052704 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.252C>T (p.Ser84=) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001106480] Chr10:6025838 [GRCh38]
Chr10:6067801 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*1500T>C single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001108520] Chr10:6011372 [GRCh38]
Chr10:6053335 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*261A>G single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001108602] Chr10:6012611 [GRCh38]
Chr10:6054574 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*183C>A single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001108603] Chr10:6012689 [GRCh38]
Chr10:6054652 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.-26C>T single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001108672] Chr10:6062177 [GRCh38]
Chr10:6104140 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*1766T>C single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001106294] Chr10:6011106 [GRCh38]
Chr10:6053069 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*471G>A single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001106394] Chr10:6012401 [GRCh38]
Chr10:6054364 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.328C>G (p.Gln110Glu) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001106478] Chr10:6024283 [GRCh38]
Chr10:6066246 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.678G>T (p.Met226Ile) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001103425] Chr10:6019477 [GRCh38]
Chr10:6061440 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.-68G>T single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001108673] Chr10:6062219 [GRCh38]
Chr10:6104182 [GRCh37]
Chr10:10p15.1		 uncertain significance
NC_000010.11:g.(?_6012852)_(6064303_?)dup duplication Interleukin 2 receptor, alpha, deficiency of [RCV001031845] Chr10:6054815..6106266 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.347T>C (p.Val116Ala) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001218513] Chr10:6024264 [GRCh38]
Chr10:6066227 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.683C>T (p.Ala228Val) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001050692] Chr10:6019472 [GRCh38]
Chr10:6061435 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.537G>T (p.Gln179His) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001247884] Chr10:6021524 [GRCh38]
Chr10:6063487 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.229G>A (p.Asp77Asn) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001047436] Chr10:6025861 [GRCh38]
Chr10:6067824 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*599C>G single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001106392] Chr10:6012273 [GRCh38]
Chr10:6054236 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.280G>A (p.Val94Met) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001040555] Chr10:6024331 [GRCh38]
Chr10:6066294 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.4G>T (p.Asp2Tyr) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001228228] Chr10:6062148 [GRCh38]
Chr10:6104111 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*1426G>A single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001108522] Chr10:6011446 [GRCh38]
Chr10:6053409 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*1084C>T single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001103343] Chr10:6011788 [GRCh38]
Chr10:6053751 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*1042G>A single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001103345] Chr10:6011830 [GRCh38]
Chr10:6053793 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.616C>T (p.Arg206Cys) single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001042827] Chr10:6019909 [GRCh38]
Chr10:6061872 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*895T>A single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001105263] Chr10:6011977 [GRCh38]
Chr10:6053940 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.655+4C>T single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001105349] Chr10:6019866 [GRCh38]
Chr10:6061829 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.584-11C>T single nucleotide variant Interleukin 2 receptor, alpha, deficiency of [RCV001105350] Chr10:6019952 [GRCh38]
Chr10:6061915 [GRCh37]
Chr10:10p15.1		 uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6008 AgrOrtholog
COSMIC IL2RA COSMIC
Ensembl Genes ENSG00000134460 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000256876 UniProtKB/TrEMBL
  ENSP00000369287 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000369293 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000402024 UniProtKB/TrEMBL
Ensembl Transcript ENST00000256876 UniProtKB/TrEMBL
  ENST00000379954 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000379959 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000447847 UniProtKB/TrEMBL
GTEx ENSG00000134460 GTEx
HGNC ID HGNC:6008 ENTREZGENE
Human Proteome Map IL2RA Human Proteome Map
InterPro IL-2_rcpt_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi/SCR/CCP_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi_SCR_CCP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3559 UniProtKB/Swiss-Prot
NCBI Gene 3559 ENTREZGENE
OMIM 147730 OMIM
  601942 OMIM
  606367 OMIM
PANTHER PTHR10573 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Sushi UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29828 PharmGKB
PROSITE SUSHI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CCP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57535 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.231367 ENTREZGENE
UniProt H0Y5Z0_HUMAN UniProtKB/TrEMBL
  IL2RA_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5W005 ENTREZGENE, UniProtKB/TrEMBL
  Q5W006_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q5W007 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 IL2RA  interleukin 2 receptor subunit alpha  IDDM10  insulin-dependent diabetes mellitus 10  Data Merged 737654 PROVISIONAL
2015-12-15 IL2RA  interleukin 2 receptor subunit alpha    interleukin 2 receptor, alpha  Symbol and/or name change 5135510 APPROVED