Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3560
Gene name Gene Name - the full gene name approved by the HGNC.
Interleukin 2 receptor subunit beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IL2RB
Synonyms (NCBI Gene) Gene synonyms aliases
CD122, IL15RB, IMD63, P70-75
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.3
Summary Summary of gene provided in NCBI Entrez Gene.
The interleukin 2 receptor, which is involved in T cell-mediated immune responses, is present in 3 forms with respect to ability to bind interleukin 2. The low affinity form is a monomer of the alpha subunit and is not involved in signal transduction. The
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1569044747 G>A Pathogenic Coding sequence variant, stop gained
rs1601598133 GGCTCCAGG>- Pathogenic Inframe deletion, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT475221 hsa-miR-6732-5p PAR-CLIP 23592263
MIRT475220 hsa-miR-3126-5p PAR-CLIP 23592263
MIRT475219 hsa-miR-6875-5p PAR-CLIP 23592263
MIRT475218 hsa-miR-4419a PAR-CLIP 23592263
MIRT475217 hsa-miR-4510 PAR-CLIP 23592263
Transcription factors
Transcription factor Regulation Reference
EGR1 Unknown 9199305
ETS1 Activation 8413220
RXRA Activation 12149223
SP1 Unknown 9199305
WT1 Unknown 11960373
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004896 Function Cytokine receptor activity IEA
GO:0004911 Function Interleukin-2 receptor activity IBA
GO:0004911 Function Interleukin-2 receptor activity IDA 7736574
GO:0004911 Function Interleukin-2 receptor activity IMP 2467293
GO:0004911 Function Interleukin-2 receptor activity IMP 31040184, 31040185
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
146710 6009 ENSG00000100385
Protein
UniProt ID P14784
Protein name Interleukin-2 receptor subunit beta (IL-2 receptor subunit beta) (IL-2R subunit beta) (IL-2RB) (High affinity IL-2 receptor subunit beta) (Interleukin-15 receptor subunit beta) (p70-75) (p75) (CD antigen CD122)
Protein function Receptor for interleukin-2. This beta subunit is involved in receptor mediated endocytosis and transduces the mitogenic signals of IL2. Probably in association with IL15RA, involved in the stimulation of neutrophil phagocytosis by IL15 (PubMed:1
PDB 2B5I , 2ERJ , 3QAZ , 4GS7 , 5M5E , 6E8K , 7S2S
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18707 IL2RB_N1 32 123 Interleukin-2 receptor subunit beta N-terminal domain 1 Domain
Sequence
MAAPALSWRLPLLILLLPLATSWASAAVNGTSQFTCFYNSRANISCVWSQDGALQDTSCQ
VHAWPDRRRWNQTCELLPVSQASWACNLILGAPDSQKLTTVDIVTLRVLCREGVRWRVMA
IQD
FKPFENLRLMAPISLQVVHVETHRCNISWEISQASHYFERHLEFEARTLSPGHTWEE
APLLTLKQKQEWICLETLTPDTQYEFQVRVKPLQGEFTTWSPWSQPLAFRTKPAALGKDT
IPWLGHLLVGLSGAFGFIILVYLLINCRNTGPWLKKVLKCNTPDPSKFFSQLSSEHGGDV
QKWLSSPFPSSSFSPGGLAPEISPLEVLERDKVTQLLLQQDKVPEPASLSSNHSLTSCFT
NQGYFFFHLPDALEIEACQVYFTYDPYSEEDPDEGVAGAPTGSSPQPLQPLSGEDDAYCT
FPSRDDLLLFSPSLLGGPSPPSTAPGGSGAGEERMPPSLQERVPRDWDPQPLGPPTPGVP
DLVDFQPPPELVLREAGEEVPDAGPREGVSFPWSRPPGQGEFRALNARLPLNTDAYLSLQ
ELQGQDPTHLV
Sequence length 551
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
Th1 and Th2 cell differentiation
Th17 cell differentiation
Measles
Human T-cell leukemia virus 1 infection
Pathways in cancer
Transcriptional misregulation in cancer
  RAF/MAP kinase cascade
Interleukin-15 signaling
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 63 with lymphoproliferation and autoimmunity rs1922072844, rs934523851 N/A
ichthyosis Ichthyosis rs1569044747 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
Asthma Asthma N/A N/A GWAS
Rheumatoid arthritis Rheumatoid arthritis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Associate 1696861, 3115647, 3924451, 6609030
Acrocephalosyndactylia Associate 31040185
Adrenoleukodystrophy Associate 32072341
AIDS Related Complex Inhibit 1696861
Anemia Aplastic Associate 2981588
Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis Associate 24648606
Arthritis Associate 30299251
Arthritis Juvenile Associate 8733441
Arthritis Psoriatic Associate 2428913
Arthritis Rheumatoid Associate 1563102, 17257224, 18794857, 21875375, 22355377, 23261300, 3089651, 31134763, 3127092