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 be located in plasma membrane. Predicted to be part of 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
Previously 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
GRCh38106,010,689 - 6,062,367 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl106,010,689 - 6,062,370 (-)EnsemblGRCh38hg38GRCh38
GRCh37106,052,652 - 6,104,330 (-)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
T2T-CHM13v2.0106,011,401 - 6,062,560 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(-)-alpha-phellandrene  (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)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (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)
alpha-phellandrene  (EXP)
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)
CGP 52608  (EXP)
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)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetrathiomolybdate(2-)  (EXP,ISO)
theophylline  (EXP)
thioacetamide  (ISO)
thiopental  (EXP)
toluene 2,4-diisocyanate  (ISO)
Tributyltin oxide  (ISO)
trichloroacetic acid  (EXP)
trichloroethene  (EXP)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triptonide  (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
Abnormal circulating interleukin concentration  (IAGP)
Abnormal hip joint morphology  (IAGP)
Abnormal metatarsal morphology  (IAGP)
Abnormal shoulder morphology  (IAGP)
Abnormality of metacarpophalangeal joint  (IAGP)
Abnormality of the ankles  (IAGP)
Abnormality of the cervical spine  (IAGP)
Abnormality of the temporomandibular joint  (IAGP)
Abnormality of the wrist  (IAGP)
Alopecia universalis  (IAGP)
Anemia  (IAGP)
Ankle swelling  (IAGP)
Anterior chamber synechiae  (IAGP)
Antinuclear antibody positivity  (IAGP)
Arthralgia  (IAGP)
Autosomal recessive inheritance  (IAGP)
B lymphocytopenia  (IAGP)
Band keratopathy  (IAGP)
Cataract  (IAGP)
Cellulitis  (IAGP)
Chronic diarrhea  (IAGP)
Chronic oral candidiasis  (IAGP)
Concave nasal ridge  (IAGP)
Decreased CD4:CD8 ratio  (IAGP)
Decreased circulating IgA level  (IAGP)
Decreased lymphocyte proliferation in response to anti-CD3  (IAGP)
Decreased proportion of CD4+CD25+ regulatory T cells  (IAGP)
Decreased specific anti-polysaccharide antibody level  (IAGP)
Diabetes mellitus  (IAGP)
Eczema  (IAGP)
Elevated erythrocyte sedimentation rate  (IAGP)
Enlarged tonsils  (IAGP)
Enthesitis  (IAGP)
Erythroderma  (IAGP)
Failure to thrive  (IAGP)
Failure to thrive in infancy  (IAGP)
Flexion contracture  (IAGP)
Glaucoma  (IAGP)
Hemolytic anemia  (IAGP)
Hepatosplenomegaly  (IAGP)
Hip osteoarthritis  (IAGP)
Hypothyroidism  (IAGP)
Immunodeficiency  (IAGP)
Increased circulating IgE level  (IAGP)
Increased serum interferon-gamma level  (IAGP)
Iridocyclitis  (IAGP)
Joint hypermobility  (IAGP)
Joint stiffness  (IAGP)
Joint swelling  (IAGP)
Knee osteoarthritis  (IAGP)
Low-grade fever  (IAGP)
Lymphadenopathy  (IAGP)
Mild postnatal growth retardation  (IAGP)
Myalgia  (IAGP)
Myelodysplasia  (IAGP)
Oligoarthritis  (IAGP)
Patchy alopecia  (IAGP)
Pleural effusion  (IAGP)
Prominent forehead  (IAGP)
Psoriasiform dermatitis  (IAGP)
Pulmonary infiltrates  (IAGP)
Pulmonary interstitial lymphocyte infiltration  (IAGP)
Recurrent bacterial infections  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent viral infections  (IAGP)
Reduced visual acuity  (IAGP)
Rheumatoid arthritis  (IAGP)
Scaling skin  (IAGP)
Schizophrenia  (IAGP)
Severe postnatal growth retardation  (IAGP)
Severe varicella zoster infection  (IAGP)
Synovial hypertrophy  (IAGP)
Synovitis  (IAGP)
T lymphocytopenia  (IAGP)
Thyroiditis  (IAGP)
Type I diabetes mellitus  (IAGP)
Uveitis  (IAGP)
Villous atrophy  (IAGP)
Visual loss  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. IL2RA/CD25 gene polymorphisms: uneven association with multiple sclerosis (MS) and type 1 diabetes (T1D). Alcina A, etal., PLoS One. 2009;4(1):e4137. Epub 2009 Jan 6.
2. [Analysis of clinical features of 29 patients with 2019 novel coronavirus pneumonia]. 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. Differential expression of monocyte/macrophage- selective markers in human idiopathic pulmonary fibrosis. Desai B, etal., Exp Lung Res. 2011 May;37(4):227-38. Epub 2011 Feb 11.
4. Regulatory T cells enhance persistence of the zoonotic pathogen Seoul virus in its reservoir host. Easterbrook JD, etal., Proc Natl Acad Sci U S A. 2007 Sep 25;104(39):15502-7. Epub 2007 Sep 18.
5. Foxp3+ CD4 regulatory T cells limit pulmonary immunopathology by modulating the CD8 T cell response during respiratory syncytial virus infection. Fulton RB, etal., J Immunol. 2010 Aug 15;185(4):2382-92. Epub 2010 Jul 16.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. Using IL-2R/lymphocytes for predicting the clinical progression of patients with COVID-19. Hou H, etal., Clin Exp Immunol. 2020 Jul;201(1):76-84. doi: 10.1111/cei.13450. Epub 2020 May 15.
8. Genetic association between the interleukin-2 receptor-alpha gene and mode of onset of type 1 diabetes in the Japanese population. Kawasaki E, etal., J Clin Endocrinol Metab. 2009 Mar;94(3):947-52. Epub 2008 Dec 23.
9. CD4+CD25+Foxp3+ regulatory T cells depletion may attenuate the development of silica-induced lung fibrosis in mice. Liu F, etal., PLoS One. 2010 Nov 3;5(11):e15404.
10. Correlation Between Relative Nasopharyngeal Virus RNA Load and Lymphocyte Count Disease Severity in Patients with COVID-19. Liu Y, etal., Viral Immunol. 2020 Apr 10. doi: 10.1089/vim.2020.0062.
11. Alleviating allergic airway diseases by means of short-term administration of IL-2 and dexamethasone. Ma J, etal., J Allergy Clin Immunol. 2011 Jun;127(6):1447-56.e6. Epub 2011 Mar 4.
12. IL2RA genetic heterogeneity in multiple sclerosis and type 1 diabetes susceptibility and soluble interleukin-2 receptor production. Maier LM, etal., PLoS Genet. 2009 Jan;5(1):e1000322. Epub 2009 Jan 2.
13. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
14. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
15. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
16. Streptococcus pneumoniae infection suppresses allergic airways disease by inducing regulatory T-cells. Preston JA, etal., Eur Respir J. 2011 Jan;37(1):53-64. Epub 2010 Jun 4.
17. Presence of Activated Airway T Lymphocytes in Human Puumala Hantavirus Disease. Rasmuson J, etal., Chest. 2011 Mar 24.
18. Evidence for a type 1 diabetes susceptibility locus (IDDM10) on human chromosome 10p11-q11. Reed P, etal., Hum Mol Genet 1997 Jul;6(7):1011-6.
19. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
20. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
21. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
22. Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor. Sharfe N, etal., Proc Natl Acad Sci U S A. 1997 Apr 1;94(7):3168-71.
23. Characterization of Multiple Sclerosis candidate gene expression kinetics in rat experimental autoimmune encephalomyelitis. Thessen Hedreul M, etal., J Neuroimmunol. 2009 May 29;210(1-2):30-9. Epub 2009 Mar 9.
24. Prevention of diabetes: effect of mycophenolate mofetil and anti-CD25 on onset of diabetes in the DRBB rat. Ugrasbul F, etal., Pediatr Diabetes. 2008 Dec;9(6):596-601. Epub 2008 May 21.
Additional References at PubMed
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PMID:24708420   PMID:24752698   PMID:24770783   PMID:24901172   PMID:25006129   PMID:25018055   PMID:25089268   PMID:25148371   PMID:25197969   PMID:25240755   PMID:25256257   PMID:25263533  
PMID:25278028   PMID:25297818   PMID:25305215   PMID:25311493   PMID:25337274   PMID:25347332   PMID:25402852   PMID:25416807   PMID:25422100   PMID:25498254   PMID:25509109   PMID:25539460  
PMID:25563559   PMID:25623898   PMID:25661802   PMID:25672756   PMID:25742430   PMID:25745051   PMID:25753532   PMID:25793623   PMID:25889680   PMID:25903733   PMID:25921629   PMID:25935549  
PMID:25957287   PMID:26124312   PMID:26133380   PMID:26249556   PMID:26276780   PMID:26293465   PMID:26333292   PMID:26350263   PMID:26350950   PMID:26375984   PMID:26422713   PMID:26487586  
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  
PMID:28234966   PMID:28295230   PMID:28410988   PMID:28413914   PMID:28430957   PMID:28457753   PMID:28497365   PMID:28511943   PMID:28545581   PMID:28634419   PMID:28645874   PMID:28866095  
PMID:29121154   PMID:29141792   PMID:29330114   PMID:29407181   PMID:29421812   PMID:29459344   PMID:29506265   PMID:29549600   PMID:29574662   PMID:29648897   PMID:29724880   PMID:29979892  
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:31971468   PMID:32081398   PMID:32155316   PMID:32248706   PMID:32319410   PMID:32366194  
PMID:32385519   PMID:32392378   PMID:32417762   PMID:32470153   PMID:32470973   PMID:32513989   PMID:32526372   PMID:32535334   PMID:32687530   PMID:32738499   PMID:32774147   PMID:32776743  
PMID:32795376   PMID:32836195   PMID:32873636   PMID:32970831   PMID:33145806   PMID:33193078   PMID:33193091   PMID:33507447   PMID:33529846   PMID:33916798   PMID:33961781   PMID:34031980  
PMID:34120187   PMID:34143519   PMID:34226674   PMID:34287665   PMID:34304016   PMID:34324509   PMID:34386002   PMID:34470917   PMID:34737296   PMID:34916686   PMID:34970527   PMID:35213635  
PMID:35233677   PMID:35458517  


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
GRCh38106,010,689 - 6,062,367 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl106,010,689 - 6,062,370 (-)EnsemblGRCh38hg38GRCh38
GRCh37106,052,652 - 6,104,330 (-)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
T2T-CHM13v2.0106,011,401 - 6,062,560 (-)NCBI
Il2ra
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39211,647,603 - 11,698,005 (+)NCBIGRCm39mm39
GRCm39 Ensembl211,647,618 - 11,698,004 (+)Ensembl
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
mRatBN7.21766,849,974 - 66,898,665 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1766,849,974 - 66,898,697 (-)Ensembl
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
RH 3.4 Map17636.4RGD
Cytogenetic Map17q12.2NCBI
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
CanFam3.1229,892,130 - 29,948,926 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl229,894,125 - 29,944,643 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha226,924,836 - 26,975,354 (+)NCBI
ROS_Cfam_1.0230,275,012 - 30,330,188 (+)NCBI
ROS_Cfam_1.0 Ensembl230,275,175 - 30,327,642 (+)Ensembl
UMICH_Zoey_3.1227,372,288 - 27,422,786 (+)NCBI
UNSW_CanFamBas_1.0228,208,376 - 28,259,290 (+)NCBI
UU_Cfam_GSD_1.0228,928,272 - 28,977,130 (+)NCBI
Il2ra
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934432,349,142 - 32,390,487 (+)NCBI
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 - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.196,134,961 - 6,187,731 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl96,141,430 - 6,149,447 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605111,438,032 - 11,490,878 (-)NCBIVero_WHO_p1.0
Il2ra
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624775924,648 - 942,354 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_004624775927,337 - 991,062 (-)NCBIHetGla_female_1.0hetGla2

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
  CP068268 (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
T2T-CHM13v2.0106,011,401 - 6,062,560 (-)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
T2T-CHM13v2.0106,011,401 - 6,062,560 (-)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
T2T-CHM13v2.0106,011,401 - 6,062,560 (-)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

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P01589-F1-model_v2 AlphaFold P01589 1-272 view protein structure

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_000417.3(IL2RA):c.62_64+1del microsatellite Immunodeficiency due to CD25 deficiency [RCV000015780] Chr10:6062087..6062090 [GRCh38]
Chr10:6104050..6104053 [GRCh37]
Chr10:10p15.1		 pathogenic
NC_000010.10:g.6122009T>A single nucleotide variant Type 1 diabetes mellitus 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_000417.3(IL2RA):c.711A>G (p.Thr237=) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000363300]|not provided [RCV001706412]|not specified [RCV000299953] Chr10:6019444 [GRCh38]
Chr10:6061407 [GRCh37]
Chr10:10p15.1		 benign|likely 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_000417.3(IL2RA):c.301C>T (p.Gln101Ter) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000185639]|not provided [RCV001818449] Chr10:6024310 [GRCh38]
Chr10:6066273 [GRCh37]
Chr10:10p15.1		 pathogenic
NM_000417.3(IL2RA):c.692dup (p.Thr232fs) duplication Immunodeficiency due to CD25 deficiency [RCV000185640] Chr10:6019462..6019463 [GRCh38]
Chr10:6061425..6061426 [GRCh37]
Chr10:10p15.1		 pathogenic
NM_000417.3(IL2RA):c.617G>A (p.Arg206His) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001852223]|not provided [RCV000178765] Chr10:6019908 [GRCh38]
Chr10:6061871 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.497G>A (p.Ser166Asn) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000185641] Chr10:6021564 [GRCh38]
Chr10:6063527 [GRCh37]
Chr10:10p15.1		 pathogenic
NM_000417.3(IL2RA):c.122A>C (p.Tyr41Ser) single nucleotide variant Immunodeficiency due to CD25 deficiency [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_000417.3(IL2RA):c.457G>A (p.Val153Ile) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000320029]|not specified [RCV000289474] Chr10:6021604 [GRCh38]
Chr10:6063567 [GRCh37]
Chr10:10p15.1		 benign|likely benign
NM_000417.3(IL2RA):c.439A>T (p.Met147Leu) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000526682] Chr10:6021622 [GRCh38]
Chr10:6063585 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.787C>T (p.Arg263Trp) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000284134]|not provided [RCV000994347] Chr10:6018060 [GRCh38]
Chr10:6060023 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*1672A>T single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000320848] Chr10:6011200 [GRCh38]
Chr10:6053163 [GRCh37]
Chr10:10p15.1		 benign|likely benign
NM_000417.3(IL2RA):c.*677G>A single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000369552] Chr10:6012195 [GRCh38]
Chr10:6054158 [GRCh37]
Chr10:10p15.1		 benign|likely benign
NM_000417.3(IL2RA):c.*1026G>A single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000302830] Chr10:6011846 [GRCh38]
Chr10:6053809 [GRCh37]
Chr10:10p15.1		 likely benign|uncertain significance
NM_000417.3(IL2RA):c.757G>A (p.Val253Ile) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000346157]|Myelodysplasia [RCV002244747] Chr10:6018090 [GRCh38]
Chr10:6060053 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.367+7G>C single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000323644]|not provided [RCV001824725]|not specified [RCV000454685] Chr10:6024237 [GRCh38]
Chr10:6066200 [GRCh37]
Chr10:10p15.1		 benign|not provided
NM_000417.3(IL2RA):c.*107C>T single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000372171] Chr10:6012765 [GRCh38]
Chr10:6054728 [GRCh37]
Chr10:10p15.1		 likely benign|uncertain significance
NM_000417.3(IL2RA):c.753C>T (p.Ile251=) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000398793] Chr10:6018094 [GRCh38]
Chr10:6060057 [GRCh37]
Chr10:10p15.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000417.3(IL2RA):c.*1880C>G single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000306114] Chr10:6010992 [GRCh38]
Chr10:6052955 [GRCh37]
Chr10:10p15.1		 benign|likely benign
NM_000417.3(IL2RA):c.732C>T (p.Ala244=) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000306478] Chr10:6018115 [GRCh38]
Chr10:6060078 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*444T>A single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000375454] Chr10:6012428 [GRCh38]
Chr10:6054391 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*70G>A single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000400770] Chr10:6012802 [GRCh38]
Chr10:6054765 [GRCh37]
Chr10:10p15.1		 benign|likely benign
NM_000417.3(IL2RA):c.*1026G>T single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000400958] Chr10:6011846 [GRCh38]
Chr10:6053809 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*889G>A single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000308904] Chr10:6011983 [GRCh38]
Chr10:6053946 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*1994G>T single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000355184] Chr10:6010878 [GRCh38]
Chr10:6052841 [GRCh37]
Chr10:10p15.1		 benign|likely benign
NM_000417.3(IL2RA):c.*676C>T single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000275033] Chr10:6012196 [GRCh38]
Chr10:6054159 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*1461T>C single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000332829] Chr10:6011411 [GRCh38]
Chr10:6053374 [GRCh37]
Chr10:10p15.1		 benign
NM_000417.3(IL2RA):c.*1549C>T single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000381458] Chr10:6011323 [GRCh38]
Chr10:6053286 [GRCh37]
Chr10:10p15.1		 benign
NM_000417.3(IL2RA):c.*1974C>T single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000260367] Chr10:6010898 [GRCh38]
Chr10:6052861 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*767C>T single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000333666] Chr10:6012105 [GRCh38]
Chr10:6054068 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*1008G>A single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000357957] Chr10:6011864 [GRCh38]
Chr10:6053827 [GRCh37]
Chr10:10p15.1		 benign|likely benign
NM_000417.3(IL2RA):c.367+12A>T single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000261317] Chr10:6024232 [GRCh38]
Chr10:6066195 [GRCh37]
Chr10:10p15.1		 benign
NM_000417.3(IL2RA):c.*1061C>T single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000278090] Chr10:6011811 [GRCh38]
Chr10:6053774 [GRCh37]
Chr10:10p15.1		 likely benign|uncertain significance
NM_000417.3(IL2RA):c.516C>T (p.His172=) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000262595]|not provided [RCV001824724] Chr10:6021545 [GRCh38]
Chr10:6063508 [GRCh37]
Chr10:10p15.1		 benign|not provided
NM_000417.3(IL2RA):c.656-14T>A single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000314512] Chr10:6019513 [GRCh38]
Chr10:6061476 [GRCh37]
Chr10:10p15.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000417.3(IL2RA):c.*1186C>T single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000336762] Chr10:6011686 [GRCh38]
Chr10:6053649 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*1772A>C single nucleotide variant Immunodeficiency due to CD25 deficiency [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 Immunodeficiency due to CD25 deficiency [RCV000265094]|not specified [RCV000455255] Chr10:6026006 [GRCh38]
Chr10:6067969 [GRCh37]
Chr10:10p15.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000417.3(IL2RA):c.*888C>T single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000363551] Chr10:6011984 [GRCh38]
Chr10:6053947 [GRCh37]
Chr10:10p15.1		 likely benign|uncertain significance
NM_000417.3(IL2RA):c.*1702C>T single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000265776] Chr10:6011170 [GRCh38]
Chr10:6053133 [GRCh37]
Chr10:10p15.1		 benign
NM_000417.3(IL2RA):c.*1267G>A single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000281841] Chr10:6011605 [GRCh38]
Chr10:6053568 [GRCh37]
Chr10:10p15.1		 benign
NM_000417.3(IL2RA):c.669G>A (p.Gln223=) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000392457] Chr10:6019486 [GRCh38]
Chr10:6061449 [GRCh37]
Chr10:10p15.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000417.3(IL2RA):c.*2055T>C single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000300083] Chr10:6010817 [GRCh38]
Chr10:6052780 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*1041C>T single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000342408] Chr10:6011831 [GRCh38]
Chr10:6053794 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.584-6C>T single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000366874] Chr10:6019947 [GRCh38]
Chr10:6061910 [GRCh37]
Chr10:10p15.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000417.3(IL2RA):c.*2108T>G single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000392802] Chr10:6010764 [GRCh38]
Chr10:6052727 [GRCh37]
Chr10:10p15.1		 benign|likely benign
NM_000417.3(IL2RA):c.*969G>A single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000393110] Chr10:6011903 [GRCh38]
Chr10:6053866 [GRCh37]
Chr10:10p15.1		 benign|likely benign
NM_000417.3(IL2RA):c.*414C>T single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000281064] Chr10:6012458 [GRCh38]
Chr10:6054421 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*1575G>A single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000271727] Chr10:6011297 [GRCh38]
Chr10:6053260 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*1154_*1158dup duplication Immunodeficiency due to CD25 deficiency [RCV000390310] Chr10:6011713..6011714 [GRCh38]
Chr10:6053676..6053677 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*884C>T single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000269195] Chr10:6011988 [GRCh38]
Chr10:6053951 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*672A>G single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000330212] Chr10:6012200 [GRCh38]
Chr10:6054163 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.167G>A (p.Arg56His) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000380637] Chr10:6025923 [GRCh38]
Chr10:6067886 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*410_*411del deletion Immunodeficiency due to CD25 deficiency [RCV000317477] Chr10:6012461..6012462 [GRCh38]
Chr10:6054424..6054425 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*1650G>A single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000384812] Chr10:6011222 [GRCh38]
Chr10:6053185 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*1454A>G single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000385554] Chr10:6011418 [GRCh38]
Chr10:6053381 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*2178T>A single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000349304] Chr10:6010694 [GRCh38]
Chr10:6052657 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*103C>T single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000285488] Chr10:6012769 [GRCh38]
Chr10:6054732 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*1539T>C single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000296603] Chr10:6011333 [GRCh38]
Chr10:6053296 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.-211C>G single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000322520] Chr10:6062362 [GRCh38]
Chr10:6104325 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.427G>A (p.Val143Met) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000353808] Chr10:6021634 [GRCh38]
Chr10:6063597 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*1574C>T single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000326816] Chr10:6011298 [GRCh38]
Chr10:6053261 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*93G>A single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000342757] Chr10:6012779 [GRCh38]
Chr10:6054742 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.2(IL2RA):c.*2191T>G single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000292241] Chr10:6010681 [GRCh38]
Chr10:6052644 [GRCh37]
Chr10:10p15.1		 benign
NM_000417.3(IL2RA):c.691G>C (p.Glu231Gln) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000641699] Chr10:6019464 [GRCh38]
Chr10:6061427 [GRCh37]
Chr10:10p15.1		 likely benign|uncertain significance
NM_000417.3(IL2RA):c.632C>T (p.Thr211Ile) single nucleotide variant not provided [RCV000593539] Chr10:6019893 [GRCh38]
Chr10:6061856 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.368-2A>G single nucleotide variant not provided [RCV000593621] Chr10:6021695 [GRCh38]
Chr10:6063658 [GRCh37]
Chr10:10p15.1		 pathogenic
NM_000417.3(IL2RA):c.76G>C (p.Asp26His) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000641698]|not provided [RCV001702702] Chr10:6026014 [GRCh38]
Chr10:6067977 [GRCh37]
Chr10:10p15.1		 likely benign|uncertain significance
NM_000417.3(IL2RA):c.193A>G (p.Met65Val) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000641700] Chr10:6025897 [GRCh38]
Chr10:6067860 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.584-8del deletion Immunodeficiency due to CD25 deficiency [RCV000912228]|Type 1 diabetes mellitus 10 [RCV000768237] 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_000417.3(IL2RA):c.272C>T (p.Thr91Met) single nucleotide variant Immunodeficiency due to CD25 deficiency [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_000417.3(IL2RA):c.64+15308T>A single nucleotide variant Immunodeficiency due to CD25 deficiency [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_000417.3(IL2RA):c.517G>A (p.Gly173Arg) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000697789] Chr10:6021544 [GRCh38]
Chr10:6063507 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.297A>T (p.Glu99Asp) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000700724] Chr10:6024314 [GRCh38]
Chr10:6066277 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.700A>G (p.Ile234Val) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000698549] Chr10:6019455 [GRCh38]
Chr10:6061418 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.337A>G (p.Met113Val) single nucleotide variant Immunodeficiency due to CD25 deficiency [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 Immunodeficiency due to CD25 deficiency [RCV001504570]|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 Immunodeficiency due to CD25 deficiency [RCV001473256]|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 Immunodeficiency due to CD25 deficiency [RCV001069141] Chr10:6018059 [GRCh38]
Chr10:6060022 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.256+1G>A single nucleotide variant Immunodeficiency due to CD25 deficiency [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 Immunodeficiency due to CD25 deficiency [RCV000886750] Chr10:6024254 [GRCh38]
Chr10:6066217 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.246C>A (p.Cys82Ter) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000814187] Chr10:6025844 [GRCh38]
Chr10:6067807 [GRCh37]
Chr10:10p15.1		 pathogenic
NM_000417.3(IL2RA):c.256+5_256+13del deletion Immunodeficiency due to CD25 deficiency [RCV000804955] Chr10:6025821..6025829 [GRCh38]
Chr10:6067784..6067792 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.584-12TC[4] microsatellite Immunodeficiency due to CD25 deficiency [RCV001448372]|not provided [RCV000936193] Chr10:6019947..6019948 [GRCh38]
Chr10:6061910..6061911 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.773G>A (p.Gly258Glu) single nucleotide variant Immunodeficiency due to CD25 deficiency [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_000417.3(IL2RA):c.655+3G>A single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000813373] Chr10:6019867 [GRCh38]
Chr10:6061830 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.182G>T (p.Gly61Val) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000807888] Chr10:6025908 [GRCh38]
Chr10:6067871 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.263G>A (p.Arg88Gln) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000794961] Chr10:6024348 [GRCh38]
Chr10:6066311 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.417T>G (p.Ile139Met) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000795201] Chr10:6021644 [GRCh38]
Chr10:6063607 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.332G>A (p.Ser111Asn) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000812221] Chr10:6024279 [GRCh38]
Chr10:6066242 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.547A>G (p.Ile183Val) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000810659] Chr10:6021514 [GRCh38]
Chr10:6063477 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.484G>A (p.Gly162Ser) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000795536] Chr10:6021577 [GRCh38]
Chr10:6063540 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.756C>T (p.Ser252=) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000937319] Chr10:6018091 [GRCh38]
Chr10:6060054 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.100G>A (p.Ala34Thr) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV000988324] Chr10:6025990 [GRCh38]
Chr10:6067953 [GRCh37]
Chr10:10p15.1		 likely pathogenic|conflicting interpretations of pathogenicity
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 Immunodeficiency due to CD25 deficiency [RCV001222052] Chr10:6021562 [GRCh38]
Chr10:6063525 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.491C>T (p.Ala164Val) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001223663] Chr10:6021570 [GRCh38]
Chr10:6063533 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.731C>T (p.Ala244Val) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001241523] Chr10:6018116 [GRCh38]
Chr10:6060079 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.180C>T (p.Ser60=) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001225527] Chr10:6025910 [GRCh38]
Chr10:6067873 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*1443G>C single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001108521] Chr10:6011429 [GRCh38]
Chr10:6053392 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*55T>C single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001108604] Chr10:6012817 [GRCh38]
Chr10:6054780 [GRCh37]
Chr10:10p15.1		 benign
NM_000417.3(IL2RA):c.*1643C>A single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001106295] Chr10:6011229 [GRCh38]
Chr10:6053192 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.225C>G (p.Ser75=) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001419366]|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 Immunodeficiency due to CD25 deficiency [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 Immunodeficiency due to CD25 deficiency [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 Immunodeficiency due to CD25 deficiency [RCV000982081] Chr10:6021605 [GRCh38]
Chr10:6063568 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.*1619G>A single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001106296] Chr10:6011253 [GRCh38]
Chr10:6053216 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*752A>G single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001106391] Chr10:6012120 [GRCh38]
Chr10:6054083 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.*513T>C single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001106393] Chr10:6012359 [GRCh38]
Chr10:6054322 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.257-11A>G single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001106479] Chr10:6024365 [GRCh38]
Chr10:6066328 [GRCh37]
Chr10:10p15.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000417.3(IL2RA):c.693G>C (p.Glu231Asp) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001103424] Chr10:6019462 [GRCh38]
Chr10:6061425 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*1024G>A single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001105261] Chr10:6011848 [GRCh38]
Chr10:6053811 [GRCh37]
Chr10:10p15.1		 benign
NM_000417.3(IL2RA):c.656-11_656-10del microsatellite Immunodeficiency due to CD25 deficiency [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 Immunodeficiency due to CD25 deficiency [RCV002066147]|not provided [RCV000935306] Chr10:6019916 [GRCh38]
Chr10:6061879 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.*1044T>C single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001103344] Chr10:6011828 [GRCh38]
Chr10:6053791 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*963A>C single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001105262] Chr10:6011909 [GRCh38]
Chr10:6053872 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*2144T>G single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001105168] Chr10:6010728 [GRCh38]
Chr10:6052691 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*2131A>G single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001105169] Chr10:6010741 [GRCh38]
Chr10:6052704 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.252C>T (p.Ser84=) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001106480] Chr10:6025838 [GRCh38]
Chr10:6067801 [GRCh37]
Chr10:10p15.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000417.3(IL2RA):c.*1500T>C single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001108520] Chr10:6011372 [GRCh38]
Chr10:6053335 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*261A>G single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001108602] Chr10:6012611 [GRCh38]
Chr10:6054574 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*183C>A single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001108603] Chr10:6012689 [GRCh38]
Chr10:6054652 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.-26C>T single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001108672] Chr10:6062177 [GRCh38]
Chr10:6104140 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*1766T>C single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001106294] Chr10:6011106 [GRCh38]
Chr10:6053069 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*471G>A single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001106394] Chr10:6012401 [GRCh38]
Chr10:6054364 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.328C>G (p.Gln110Glu) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001106478] Chr10:6024283 [GRCh38]
Chr10:6066246 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.678G>T (p.Met226Ile) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001103425] Chr10:6019477 [GRCh38]
Chr10:6061440 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.-68G>T single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001108673] Chr10:6062219 [GRCh38]
Chr10:6104182 [GRCh37]
Chr10:10p15.1		 uncertain significance
NC_000010.11:g.(?_6012852)_(6064303_?)dup duplication Immunodeficiency due to CD25 deficiency [RCV001031845] Chr10:6054815..6106266 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.347T>C (p.Val116Ala) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001218513] Chr10:6024264 [GRCh38]
Chr10:6066227 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.683C>T (p.Ala228Val) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001050692] Chr10:6019472 [GRCh38]
Chr10:6061435 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.537G>T (p.Gln179His) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001247884] Chr10:6021524 [GRCh38]
Chr10:6063487 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.229G>A (p.Asp77Asn) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001047436] Chr10:6025861 [GRCh38]
Chr10:6067824 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*599C>G single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001106392] Chr10:6012273 [GRCh38]
Chr10:6054236 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.280G>A (p.Val94Met) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001040555] Chr10:6024331 [GRCh38]
Chr10:6066294 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.4G>T (p.Asp2Tyr) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001228228] Chr10:6062148 [GRCh38]
Chr10:6104111 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*1426G>A single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001108522] Chr10:6011446 [GRCh38]
Chr10:6053409 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*1084C>T single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001103343] Chr10:6011788 [GRCh38]
Chr10:6053751 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*1042G>A single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001103345] Chr10:6011830 [GRCh38]
Chr10:6053793 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.616C>T (p.Arg206Cys) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001042827] Chr10:6019909 [GRCh38]
Chr10:6061872 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.*895T>A single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001105263] Chr10:6011977 [GRCh38]
Chr10:6053940 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.655+4C>T single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001105349] Chr10:6019866 [GRCh38]
Chr10:6061829 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.584-11C>T single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001105350] Chr10:6019952 [GRCh38]
Chr10:6061915 [GRCh37]
Chr10:10p15.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000417.3(IL2RA):c.251G>C (p.Ser84Thr) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001338932] Chr10:6025839 [GRCh38]
Chr10:6067802 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.117G>A (p.Met39Ile) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001337173] Chr10:6025973 [GRCh38]
Chr10:6067936 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.454T>C (p.Cys152Arg) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001302852] Chr10:6021607 [GRCh38]
Chr10:6063570 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.76G>A (p.Asp26Asn) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001318657] Chr10:6026014 [GRCh38]
Chr10:6067977 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.86C>T (p.Pro29Leu) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001309313] Chr10:6026004 [GRCh38]
Chr10:6067967 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.624G>C (p.Glu208Asp) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001319357] Chr10:6019901 [GRCh38]
Chr10:6061864 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.584-7C>T single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001396867] Chr10:6019948 [GRCh38]
Chr10:6061911 [GRCh37]
Chr10:10p15.1		 likely benign
NC_000010.10:g.(?_6054815)_(6106266_?)dup duplication Interleukin 2 receptor, alpha, deficiency of [RCV001294973] Chr10:6054815..6106266 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.453G>T (p.Gln151His) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001346414] Chr10:6021608 [GRCh38]
Chr10:6063571 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.166C>T (p.Arg56Cys) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001361025] Chr10:6025924 [GRCh38]
Chr10:6067887 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.374G>T (p.Cys125Phe) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001365275] Chr10:6021687 [GRCh38]
Chr10:6063650 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.427G>T (p.Val143Leu) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001302242] Chr10:6021634 [GRCh38]
Chr10:6063597 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.733G>A (p.Gly245Ser) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001370497]|not provided [RCV001762646] Chr10:6018114 [GRCh38]
Chr10:6060077 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.125A>G (p.Lys42Arg) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001321225] Chr10:6025965 [GRCh38]
Chr10:6067928 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.759CCT[2] (p.Leu256del) microsatellite Immunodeficiency due to CD25 deficiency [RCV001345547] Chr10:6018080..6018082 [GRCh38]
Chr10:6060043..6060045 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.221C>T (p.Ser74Leu) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001314164] Chr10:6025869 [GRCh38]
Chr10:6067832 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.153C>T (p.Cys51=) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001367366] Chr10:6025937 [GRCh38]
Chr10:6067900 [GRCh37]
Chr10:10p15.1		 uncertain significance
Single allele deletion not provided [RCV001391669] Chr10:120001..6920000 [GRCh37]
Chr10:10p15.3-14		 pathogenic
NM_000417.3(IL2RA):c.321A>C (p.Thr107=) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001396060] Chr10:6024290 [GRCh38]
Chr10:6066253 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.262C>T (p.Arg88Trp) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001365737] Chr10:6024349 [GRCh38]
Chr10:6066312 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.368-18A>G single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001511654] Chr10:6021711 [GRCh38]
Chr10:6063674 [GRCh37]
Chr10:10p15.1		 benign
NM_000417.3(IL2RA):c.367+10G>A single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001500842] Chr10:6024234 [GRCh38]
Chr10:6066197 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.747G>A (p.Leu249=) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001393894] Chr10:6018100 [GRCh38]
Chr10:6060063 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.813A>G (p.Thr271=) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001498093] Chr10:6012878 [GRCh38]
Chr10:6054841 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.204A>G (p.Thr68=) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001442836] Chr10:6025886 [GRCh38]
Chr10:6067849 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.794+10G>C single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001486530] Chr10:6018043 [GRCh38]
Chr10:6060006 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.727+19T>C single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001480349] Chr10:6019409 [GRCh38]
Chr10:6061372 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.768G>A (p.Leu256=) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001481157] Chr10:6018079 [GRCh38]
Chr10:6060042 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.583+10C>T single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001453757] Chr10:6021468 [GRCh38]
Chr10:6063431 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.656-17T>G single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001518282] Chr10:6019516 [GRCh38]
Chr10:6061479 [GRCh37]
Chr10:10p15.1		 benign
NM_000417.3(IL2RA):c.795-7A>G single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001490616] Chr10:6012903 [GRCh38]
Chr10:6054866 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.495G>A (p.Glu165=) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001500319] Chr10:6021566 [GRCh38]
Chr10:6063529 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.65-20A>G single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001521716] Chr10:6026045 [GRCh38]
Chr10:6068008 [GRCh37]
Chr10:10p15.1		 benign
NM_000417.3(IL2RA):c.656-4A>G single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001428292] Chr10:6019503 [GRCh38]
Chr10:6061466 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.504C>A (p.Cys168Ter) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001782298] Chr10:6021557 [GRCh38]
Chr10:6063520 [GRCh37]
Chr10:10p15.1		 likely pathogenic
NM_000417.3(IL2RA):c.64+8C>T single nucleotide variant not specified [RCV001820222] Chr10:6062080 [GRCh38]
Chr10:6104043 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.419A>T (p.Tyr140Phe) single nucleotide variant not specified [RCV001822710] Chr10:6021642 [GRCh38]
Chr10:6063605 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.583+2T>C single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV002040509] Chr10:6021476 [GRCh38]
Chr10:6063439 [GRCh37]
Chr10:10p15.1		 likely pathogenic
NC_000010.10:g.(?_5238831)_(6104114_?)dup duplication Immunodeficiency due to CD25 deficiency [RCV001913798] Chr10:5238831..6104114 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.171A>T (p.Arg57Ser) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001874918] Chr10:6025919 [GRCh38]
Chr10:6067882 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.610G>A (p.Glu204Lys) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001987908] Chr10:6019915 [GRCh38]
Chr10:6061878 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.45G>A (p.Met15Ile) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001872097] Chr10:6062107 [GRCh38]
Chr10:6104070 [GRCh37]
Chr10:10p15.1		 uncertain significance
GRCh37/hg19 10p15.1(chr10:5952259-6486611) copy number gain not specified [RCV002052862] Chr10:5952259..6486611 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.794+1G>C single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001985410] Chr10:6018052 [GRCh38]
Chr10:6060015 [GRCh37]
Chr10:10p15.1		 uncertain significance
GRCh37/hg19 10p15.3-14(chr10:2116123-8856296) copy number gain not specified [RCV002052861] Chr10:2116123..8856296 [GRCh37]
Chr10:10p15.3-14		 uncertain significance
NM_000417.3(IL2RA):c.721G>C (p.Val241Leu) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001911903] Chr10:6019434 [GRCh38]
Chr10:6061397 [GRCh37]
Chr10:10p15.1		 uncertain significance
GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4 copy number gain Mosaic supernumerary isodicentric chromosome 10 [RCV001825164] Chr10:135655..47688677 [GRCh37]
Chr10:10p15.3-q11.22		 not provided
GRCh37/hg19 10p15.1-14(chr10:4927427-6653936)x3 copy number gain not provided [RCV001827671] Chr10:4927427..6653936 [GRCh37]
Chr10:10p15.1-14		 uncertain significance
NM_000417.3(IL2RA):c.724G>T (p.Ala242Ser) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001894782] Chr10:6019431 [GRCh38]
Chr10:6061394 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.643G>A (p.Val215Ile) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001987413] Chr10:6019882 [GRCh38]
Chr10:6061845 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.806G>A (p.Arg269Lys) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001964315] Chr10:6012885 [GRCh38]
Chr10:6054848 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.728-3C>T single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV002004041] Chr10:6018122 [GRCh38]
Chr10:6060085 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.301C>G (p.Gln101Glu) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001959415] Chr10:6024310 [GRCh38]
Chr10:6066273 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.21G>A (p.Met7Ile) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV002038027] Chr10:6062131 [GRCh38]
Chr10:6104094 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.617_640del (p.Arg206_Cys213del) deletion Immunodeficiency due to CD25 deficiency [RCV002037614] Chr10:6019885..6019908 [GRCh38]
Chr10:6061848..6061871 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.554C>T (p.Thr185Ile) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV002011583] Chr10:6021507 [GRCh38]
Chr10:6063470 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.107T>C (p.Phe36Ser) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001877624] Chr10:6025983 [GRCh38]
Chr10:6067946 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.359G>A (p.Ser120Asn) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV002031126] Chr10:6024252 [GRCh38]
Chr10:6066215 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.649A>G (p.Thr217Ala) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001877780] Chr10:6019876 [GRCh38]
Chr10:6061839 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.695C>T (p.Thr232Met) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV002033052] Chr10:6019460 [GRCh38]
Chr10:6061423 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.526A>T (p.Arg176Trp) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV002010011] Chr10:6021535 [GRCh38]
Chr10:6063498 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.137T>C (p.Met46Thr) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001998136] Chr10:6025953 [GRCh38]
Chr10:6067916 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.587A>G (p.Glu196Gly) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV002012990] Chr10:6019938 [GRCh38]
Chr10:6061901 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.152G>C (p.Cys51Ser) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001880508] Chr10:6025938 [GRCh38]
Chr10:6067901 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.815T>C (p.Ile272Thr) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001952495] Chr10:6012876 [GRCh38]
Chr10:6054839 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.479A>G (p.His160Arg) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001976445] Chr10:6021582 [GRCh38]
Chr10:6063545 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.40A>G (p.Ile14Val) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001902510] Chr10:6062112 [GRCh38]
Chr10:6104075 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.755G>A (p.Ser252Asn) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV002029828] Chr10:6018092 [GRCh38]
Chr10:6060055 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.191A>G (p.Tyr64Cys) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001866344] Chr10:6025899 [GRCh38]
Chr10:6067862 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.797G>A (p.Arg266Lys) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV001903067] Chr10:6012894 [GRCh38]
Chr10:6054857 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.75C>T (p.Asp25=) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV002210861] Chr10:6026015 [GRCh38]
Chr10:6067978 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.655+15A>C single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV002129521] Chr10:6019855 [GRCh38]
Chr10:6061818 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.257-14T>C single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV002145292] Chr10:6024368 [GRCh38]
Chr10:6066331 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.256+10C>T single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV002188444] Chr10:6025824 [GRCh38]
Chr10:6067787 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.189C>G (p.Leu63=) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV002186809] Chr10:6025901 [GRCh38]
Chr10:6067864 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.655+19G>A single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV002074897] Chr10:6019851 [GRCh38]
Chr10:6061814 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.795-16T>C single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV002090806] Chr10:6012912 [GRCh38]
Chr10:6054875 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.256+7G>A single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV002111371] Chr10:6025827 [GRCh38]
Chr10:6067790 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.38T>A (p.Phe13Tyr) single nucleotide variant not provided [RCV002224919] Chr10:6062114 [GRCh38]
Chr10:6104077 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_000417.3(IL2RA):c.606C>T (p.Ser202=) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV002212958] Chr10:6019919 [GRCh38]
Chr10:6061882 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.279A>G (p.Gln93=) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV002076436] Chr10:6024332 [GRCh38]
Chr10:6066295 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.368-8T>C single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV002174370] Chr10:6021701 [GRCh38]
Chr10:6063664 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.222G>A (p.Ser74=) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV002098461] Chr10:6025868 [GRCh38]
Chr10:6067831 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.368-19_368-18delinsAG indel Immunodeficiency due to CD25 deficiency [RCV002218231] Chr10:6021711..6021712 [GRCh38]
Chr10:6063674..6063675 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.368-19_368-18inv inversion Immunodeficiency due to CD25 deficiency [RCV002201286] Chr10:6021711..6021712 [GRCh38]
Chr10:6063674..6063675 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.99C>T (p.His33=) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV002140200] Chr10:6025991 [GRCh38]
Chr10:6067954 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.696G>A (p.Thr232=) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV002220959] Chr10:6019459 [GRCh38]
Chr10:6061422 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.342G>A (p.Gln114=) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV002136049] Chr10:6024269 [GRCh38]
Chr10:6066232 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.368-16T>C single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV002184038] Chr10:6021709 [GRCh38]
Chr10:6063672 [GRCh37]
Chr10:10p15.1		 benign
NM_000417.3(IL2RA):c.645C>G (p.Val215=) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV002180007] Chr10:6019880 [GRCh38]
Chr10:6061843 [GRCh37]
Chr10:10p15.1		 likely benign
NM_000417.3(IL2RA):c.282G>A (p.Val94=) single nucleotide variant Immunodeficiency due to CD25 deficiency [RCV002182545] Chr10:6024329 [GRCh38]
Chr10:6066292 [GRCh37]
Chr10:10p15.1		 likely benign

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 ENSP00000256876.6 UniProtKB/TrEMBL
  ENSP00000369287 ENTREZGENE
  ENSP00000369287.1 UniProtKB/TrEMBL
  ENSP00000369293 ENTREZGENE
  ENSP00000369293.3 UniProtKB/Swiss-Prot
  ENSP00000402024.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000256876.10 UniProtKB/TrEMBL
  ENST00000379954 ENTREZGENE
  ENST00000379954.5 UniProtKB/TrEMBL
  ENST00000379959 ENTREZGENE
  ENST00000379959.8 UniProtKB/Swiss-Prot
  ENST00000447847.1 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
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