Gene Gene information from NCBI Gene database.
Entrez ID 3560
Gene name Interleukin 2 receptor subunit beta
Gene symbol IL2RB
Synonyms (NCBI Gene)
CD122IL15RBIMD63P70-75
Chromosome 22
Chromosome location 22q12.3
Summary 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.
2
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.
116
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 factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
EGR1 Unknown 9199305
ETS1 Activation 8413220
RXRA Activation 12149223
SP1 Unknown 9199305
WT1 Unknown 11960373
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
146710 6009 ENSG00000100385
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Ichthyosis Pathogenic rs1569044747 RCV000709690
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency 63 with lymphoproliferation and autoimmunity Pathogenic rs934523851, rs1922072844 RCV000787340
RCV000787341
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA Disgenet, GWAS catalog
Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 16173964
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 15948150
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy Pubtator 32072341 Associate
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 17550129
★☆☆☆☆
Found in Text Mining only
Adult Oligodendroglioma Oligodendroglioma BEFREE 2395860
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 10400740
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 22626591
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 15056289, 21908873, 24475283, 28228570, 28698670
★☆☆☆☆
Found in Text Mining only
Anemia Aplastic Aplastic anemia Pubtator 2981588 Associate
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 22984424, 24338459, 29110110, 30299251
★☆☆☆☆
Found in Text Mining only