Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3559
Gene name Gene Name - the full gene name approved by the HGNC.
Interleukin 2 receptor subunit alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IL2RA
Synonyms (NCBI Gene) Gene synonyms aliases
CD25, IDDM10, IL2R, IMD41, TCGFR, p55
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10p15.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 factor Regulation Reference
FOXP3 Activation 21036387
MSC Activation 19561533
NFKB1 Unknown 11781710;9135552
POU2F1 Unknown 9135552
REL Activation 1508203
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
147730 6008 ENSG00000134460
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Immunodeficiency immunodeficiency due to cd25 deficiency rs886041032, rs886041037, rs886041038, rs796051887, rs796051888, rs774803573 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alopecia Areata Alopecia areata N/A N/A GWAS
Asthma Asthma (adult onset), Pediatric asthma, Asthma, Asthma (childhood onset), Nonatopic asthma, Atopic asthma, Age of onset of adult onset asthma N/A N/A GWAS
Carcinoma Basal cell carcinoma N/A N/A GWAS
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Associations from Text Mining Disease 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