IL2RB (interleukin 2 receptor subunit beta)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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3560 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Interleukin 2 receptor subunit beta |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
IL2RB |
SynonymsGene synonyms aliases
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CD122, IL15RB, IMD63, P70-75 |
ChromosomeChromosome number
|
22 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
22q12.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
SNPsSNP 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 |
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miRNAmiRNA information provided by mirtarbase database.
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Transcription factors
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000165 |
Process |
MAPK cascade |
TAS |
|
GO:0004911 |
Function |
Interleukin-2 receptor activity |
IDA |
7736574 |
GO:0004911 |
Function |
Interleukin-2 receptor activity |
IMP |
31040184, 31040185 |
GO:0004911 |
Function |
Interleukin-2 receptor activity |
IMP |
2467293 |
GO:0005515 |
Function |
Protein binding |
IPI |
16477002, 22446627, 23104097, 25416956, 32296183 |
GO:0005768 |
Component |
Endosome |
TAS |
|
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0005886 |
Component |
Plasma membrane |
IMP |
31040184, 31040185 |
GO:0005886 |
Component |
Plasma membrane |
TAS |
|
GO:0005887 |
Component |
Integral component of plasma membrane |
TAS |
8514792 |
GO:0005893 |
Component |
Interleukin-2 receptor complex |
TAS |
2467293 |
GO:0007165 |
Process |
Signal transduction |
TAS |
2785715 |
GO:0009897 |
Component |
External side of plasma membrane |
ISS |
|
GO:0009986 |
Component |
Cell surface |
IDA |
15123770 |
GO:0009986 |
Component |
Cell surface |
IMP |
31040184, 31040185 |
GO:0016020 |
Component |
Membrane |
HDA |
19946888 |
GO:0016032 |
Process |
Viral process |
IEA |
|
GO:0019221 |
Process |
Cytokine-mediated signaling pathway |
IDA |
7736574 |
GO:0019221 |
Process |
Cytokine-mediated signaling pathway |
TAS |
|
GO:0019976 |
Function |
Interleukin-2 binding |
IMP |
2467293, 31040184, 31040185 |
GO:0019976 |
Function |
Interleukin-2 binding |
ISS |
|
GO:0035723 |
Process |
Interleukin-15-mediated signaling pathway |
IMP |
15123770, 31040184 |
GO:0035723 |
Process |
Interleukin-15-mediated signaling pathway |
TAS |
|
GO:0038110 |
Process |
Interleukin-2-mediated signaling pathway |
IMP |
31040184 |
GO:0038110 |
Process |
Interleukin-2-mediated signaling pathway |
TAS |
2467293 |
GO:0042010 |
Function |
Interleukin-15 receptor activity |
IDA |
15123770 |
GO:0043066 |
Process |
Negative regulation of apoptotic process |
IDA |
7736574 |
GO:0050766 |
Process |
Positive regulation of phagocytosis |
IMP |
15123770 |
GO:0065003 |
Process |
Protein-containing complex assembly |
TAS |
2467293 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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 IQDFKPFENLRLMAPISLQVVHVETHRCNISWEISQASHYFERHLEFEARTLSPGHTWEE APLLTLKQKQEWICLETLTPDTQYEFQVRVKPLQGEFTTWSPWSQPLAFRTKPAALGKDT IPWLGHLLVGLSGAFGFIILVYLLINCRNTGPWLKKVLKCNTPDPSKFFSQLSSEHGGDV QKWLSSPFPSSSFSPGGLAPEISPLEVLERDKVTQLLLQQDKVPEPASLSSNHSLTSCFT NQGYFFFHLPDALEIEACQVYFTYDPYSEEDPDEGVAGAPTGSSPQPLQPLSGEDDAYCT FPSRDDLLLFSPSLLGGPSPPSTAPGGSGAGEERMPPSLQERVPRDWDPQPLGPPTPGVP DLVDFQPPPELVLREAGEEVPDAGPREGVSFPWSRPPGQGEFRALNARLPLNTDAYLSLQ ELQGQDPTHLV
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Sequence length |
551 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Apraxia |
Apraxias |
rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672 |
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Arthritis |
Systemic onset juvenile chronic arthritis, Juvenile arthritis |
rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 |
23603761 |
Arthrogryposis multiplex congenita |
Arthrogryposis |
rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627 |
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Asthma |
Asthma |
rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 |
20860503, 21907864, 22561531 |
Autoimmune diseases |
Autoimmune Diseases |
rs41285370, rs869025224 |
21383967 |
Ichthyosis |
Ichthyoses |
rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519 |
|
Multiple sclerosis |
Multiple Sclerosis |
rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544 |
22190364 |
Rheumatoid arthritis |
Rheumatoid Arthritis, Rheumatoid Arthritis, Systemic Juvenile |
rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212 |
23143596, 17554300, 24532676, 20453842, 23603761 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Autoimmune hemolytic anemia |
Autoimmune hemolytic anemia |
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Bipolar disorder |
Bipolar Disorder |
|
16380905 |
Digestive system neuroendocrine neoplasm |
Gastro-enteropancreatic neuroendocrine tumor |
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29915428 |
Ichthyosis congenita |
Ichthyosiform Erythroderma, Congenital |
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|
Immune system diseases |
Immune System Diseases |
|
21383967 |
Immunologic deficiency syndromes |
Immunologic Deficiency Syndromes |
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Iridocyclitis |
Iridocyclitis |
|
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Oligoarticular arthritis |
Oligoarticular Juvenile Idiopathic Arthritis |
|
23603761 |
Otitis media |
Recurrent otitis media |
rs601338, rs1047781, rs1800028 |
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Pauciarticular chronic arthritis |
Juvenile pauciarticular chronic arthritis |
|
23603761 |
Polyarthritis |
Polyarthritis |
|
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Seronegative polyarthritis |
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative |
|
23603761 |
Rheumatoid factor-negative polyarticular arthritis |
Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis |
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Still disease |
Juvenile-Onset Still Disease |
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23603761 |
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