Gene Gene information from NCBI Gene database.
Entrez ID 3559
Gene name Interleukin 2 receptor subunit alpha
Gene symbol IL2RA
Synonyms (NCBI Gene)
CD25IDDM10IL2RIMD41TCGFRp55
Chromosome 10
Chromosome location 10p15.1
Summary The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2R
SNPs SNP information provided by dbSNP.
9
SNP ID Visualize variation Clinical significance Consequence
rs72650666 G>A Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs773957702 C>T Likely-pathogenic Coding sequence variant, missense variant
rs774803573 G>A,T Pathogenic Coding sequence variant, synonymous variant, stop gained
rs796051887 C>T Pathogenic Coding sequence variant, intron variant, missense variant
rs796051888 T>G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
341
miRTarBase ID miRNA Experiments Reference
MIRT631408 hsa-miR-1267 HITS-CLIP 23824327
MIRT631407 hsa-miR-367-5p HITS-CLIP 23824327
MIRT631406 hsa-miR-6499-3p HITS-CLIP 23824327
MIRT644980 hsa-miR-3194-3p HITS-CLIP 23824327
MIRT631405 hsa-miR-3135b HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
11
Transcription factor Regulation Reference
FOXP3 Activation 21036387
MSC Activation 19561533
NFKB1 Unknown 11781710;9135552
POU2F1 Unknown 9135552
REL Activation 1508203
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0002437 Process Inflammatory response to antigenic stimulus IEA
GO:0002664 Process Regulation of T cell tolerance induction IMP 23416241
GO:0002682 Process Regulation of immune system process IEA
GO:0004911 Function Interleukin-2 receptor activity IDA 16293754
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
147730 6008 ENSG00000134460
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P01589
Protein name Interleukin-2 receptor subunit alpha (IL-2 receptor subunit alpha) (IL-2-RA) (IL-2R subunit alpha) (IL2-RA) (TAC antigen) (p55) (CD antigen CD25)
Protein function Receptor for interleukin-2. The receptor is involved in the regulation of immune tolerance by controlling regulatory T cells (TREGs) activity. TREGs suppress the activation and expansion of autoreactive T-cells. {ECO:0000269|PubMed:23416241, ECO
PDB 1Z92 , 2B5I , 2ERJ , 3IU3 , 3NFP , 6VWU , 6YIO , 7F9W , 7ZMZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00084 Sushi 24 82 Sushi repeat (SCR repeat) Domain
Sequence
MDSYLLMWGLLTFIMVPGCQAELCDDDPPEIPHATFKAMAYKEGTMLNCECKRGFRRIKS
GSLYMLCTGNSSHSSWDNQCQC
TSSATRNTTKQVTPQPEEQKERKTTEMQSPMQPVDQAS
LPGHCREPPPWENEATERIYHFVVGQMVYYQCVQGYRALHRGPAESVCKMTHGKTRWTQP
QLICTGEMETSQFPGEEKPQASPEGRPESETSCLVTTTDFQIQTEMAATMETSIFTTEYQ
VAVAGCVFLLISVLLLSGLTWQRRQRKSRRTI
Sequence length 272
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytokine-cytokine receptor interaction
Viral protein interaction with cytokine and cytokine receptor
Endocytosis
PI3K-Akt signaling pathway
JAK-STAT signaling pathway
Hematopoietic cell lineage
Th1 and Th2 cell differentiation
Th17 cell differentiation
Measles
Human T-cell leukemia virus 1 infection
Pathways in cancer
  RAF/MAP kinase cascade
RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
Interleukin-2 signaling
Interleukin receptor SHC signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
305
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Immunodeficiency due to CD25 deficiency Likely pathogenic; Pathogenic rs2132853537, rs886041037, rs886041038, rs796051887, rs796051888, rs1250584991, rs2539649661, rs2539643473, rs886041032, rs774803573 RCV002040509
RCV000185639
RCV000185640
RCV000185641
RCV000185642
RCV002663884
RCV002881206
RCV003629422
RCV000015780
RCV000814187
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Uncertain significance rs12722699 RCV005924325
Cholangiocarcinoma Benign rs28360490 RCV005909324
IL2RA-related disorder Likely benign; Conflicting classifications of pathogenicity rs767262856, rs41295061, rs11594656, rs72650666, rs774599486 RCV003900730
RCV003944824
RCV003944825
RCV003925437
RCV003925819
Lymphoma Benign rs28360490 RCV005909322
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency Associate 18362907
Abortion Habitual Associate 26345847
Abortion Spontaneous Associate 26261529
Acquired Immunodeficiency Syndrome Associate 1735193, 2295695, 2581997, 2957130
Acrocephalosyndactylia Associate 23330016
Acrocephalosyndactylia Inhibit 24385687
Actinic cheilitis Associate 25060152
Acute Coronary Syndrome Associate 23330016, 25612606, 25740578
Acute Coronary Syndrome Inhibit 24385687, 24603196
Acute Disease Associate 1628427