Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3560
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol IL2RB   Gene   UCSC   Ensembl
Aliases CD122, IL15RB, P70-75
Gene name interleukin 2 receptor subunit beta
Alternate names interleukin-2 receptor subunit beta, CD122 antigen, IL-2 receptor subunit beta, IL-2R subunit beta, IL-2RB, high affinity IL-2 receptor beta subunit, high affinity IL-2 receptor subunit beta, interleukin 15 receptor, beta, interleukin 2 receptor, beta, p75,
Gene location 22q12.3 (37149921: 37125837)     Exons: 10     NC_000022.11
Gene summary(Entrez) 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 intermediate affinity form consists of an alpha/beta subunit heterodimer, while the high affinity form consists of an alpha/beta/gamma subunit heterotrimer. Both the intermediate and high affinity forms of the receptor are involved in receptor-mediated endocytosis and transduction of mitogenic signals from interleukin 2. The protein encoded by this gene represents the beta subunit and is a type I membrane protein. The use of alternative promoters results in multiple transcript variants encoding the same protein. The protein is primarily expressed in the hematopoietic system. The use by some variants of an alternate promoter in an upstream long terminal repeat (LTR) results in placenta-specific expression. [provided by RefSeq, Sep 2016]
OMIM 146710

SNPs

rs228953

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000684.2   g.37135396G>A
NC_000022.10   g.37531436G>A
NC_000022.11   g.37135396G>A
NM_000878.3   c.750C>T
NM_000878.4   c.750C>T
NM_001346222.1   c.750C>T
NM_001346223.1   c.750C>T
NP_000869.1   p.Gly250=
NP_001333151.1   p.Gly250=
NP_001333152.1   p.Gly250=
XP_005261656.1   p.Gly250=

Protein Summary

Protein general information P14784  

Name: Interleukin 2 receptor subunit beta (IL 2 receptor subunit beta) (IL 2R subunit beta) (IL 2RB) (High affinity IL 2 receptor subunit beta) (p70 75) (p75) (CD antigen CD122)

Length: 551  Mass: 61,117

Sequence MAAPALSWRLPLLILLLPLATSWASAAVNGTSQFTCFYNSRANISCVWSQDGALQDTSCQVHAWPDRRRWNQTCE
LLPVSQASWACNLILGAPDSQKLTTVDIVTLRVLCREGVRWRVMAIQDFKPFENLRLMAPISLQVVHVETHRCNI
SWEISQASHYFERHLEFEARTLSPGHTWEEAPLLTLKQKQEWICLETLTPDTQYEFQVRVKPLQGEFTTWSPWSQ
PLAFRTKPAALGKDTIPWLGHLLVGLSGAFGFIILVYLLINCRNTGPWLKKVLKCNTPDPSKFFSQLSSEHGGDV
QKWLSSPFPSSSFSPGGLAPEISPLEVLERDKVTQLLLQQDKVPEPASLSSNHSLTSCFTNQGYFFFHLPDALEI
EACQVYFTYDPYSEEDPDEGVAGAPTGSSPQPLQPLSGEDDAYCTFPSRDDLLLFSPSLLGGPSPPSTAPGGSGA
GEERMPPSLQERVPRDWDPQPLGPPTPGVPDLVDFQPPPELVLREAGEEVPDAGPREGVSFPWSRPPGQGEFRAL
NARLPLNTDAYLSLQELQGQDPTHLV
Structural information
Protein Domains
Fibronectin (134-234)

Motifs
WSXWS motif(220-224)
Box 1(278-286)
Interpro:  IPR003961 IPR003531 IPR013783
Prosite:   PS50853 PS01355
CDD:   cd00063

PDB:  
1ILM 1ILN 2B5I 2ERJ 3QAZ 4GS7
PDBsum:   1ILM 1ILN 2B5I 2ERJ 3QAZ 4GS7

DIP:  
43
MINT:   273361
STRING:   ENSP00000216223;
Other Databases GeneCards:  IL2RB;  Malacards:  IL2RB

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000165 MAPK cascade
TAS biological_process
GO:0004911 interleukin-2 receptor ac
tivity
IDA molecular_function
GO:0005088 Ras guanyl-nucleotide exc
hange factor activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005622 intracellular
IEA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0006461 protein complex assembly
TAS biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0009897 external side of plasma m
embrane
ISS cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0016032 viral process
IEA biological_process
GO:0019221 cytokine-mediated signali
ng pathway
IDA biological_process
GO:0019976 interleukin-2 binding
ISS molecular_function
GO:0030101 natural killer cell activ
ation
IEA biological_process
GO:0038110 interleukin-2-mediated si
gnaling pathway
IEA biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043547 positive regulation of GT
Pase activity
IEA biological_process
GO:0004911 interleukin-2 receptor ac
tivity
TAS molecular_function
GO:0000165 MAPK cascade
TAS biological_process
GO:0004896 cytokine receptor activit
y
IEA molecular_function
GO:0004911 interleukin-2 receptor ac
tivity
IEA molecular_function
GO:0004911 interleukin-2 receptor ac
tivity
IDA molecular_function
GO:0005088 Ras guanyl-nucleotide exc
hange factor activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005622 intracellular
IEA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0006461 protein complex assembly
TAS biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0009897 external side of plasma m
embrane
IEA cellular_component
GO:0009897 external side of plasma m
embrane
ISS cellular_component
GO:0009986 cell surface
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016032 viral process
IEA biological_process
GO:0019221 cytokine-mediated signali
ng pathway
IEA biological_process
GO:0019221 cytokine-mediated signali
ng pathway
IDA biological_process
GO:0019976 interleukin-2 binding
IEA molecular_function
GO:0019976 interleukin-2 binding
ISS molecular_function
GO:0030101 natural killer cell activ
ation
IEA biological_process
GO:0038110 interleukin-2-mediated si
gnaling pathway
IEA biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043547 positive regulation of GT
Pase activity
IEA biological_process
GO:0004911 interleukin-2 receptor ac
tivity
TAS molecular_function
GO:0000165 MAPK cascade
TAS biological_process
GO:0004911 interleukin-2 receptor ac
tivity
IDA molecular_function
GO:0005088 Ras guanyl-nucleotide exc
hange factor activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0006461 protein complex assembly
TAS biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0009897 external side of plasma m
embrane
ISS cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0019221 cytokine-mediated signali
ng pathway
IDA biological_process
GO:0019976 interleukin-2 binding
ISS molecular_function
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0004911 interleukin-2 receptor ac
tivity
TAS molecular_function

KEGG pathways

hsa04151  PI3K-Akt signaling pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa05166  HTLV-I infection
hsa04630  Jak-STAT signaling pathway
hsa05202  Transcriptional misregulation in cancer
hsa04659  Th17 cell differentiation
hsa04144  Endocytosis
hsa05162  Measles
hsa04658  Th1 and Th2 cell differentiation

Diseases

Associated diseases References
Asthma PMID: 20860503
Cancer PMID: 19773451
Celiac disease PMID: 19240061
Connective tissue diseases PMID: 19527514
Diabetes PMID: 21829393
Endometriosis PMID: 16084898
Inflammatory bowel disease PMID: 19471255
Parkinson's disease PMID: 17052657
Endometriosis INFBASE16084898
Rheumatoid arthritis PMID: 17554300
Schizophrenia PMID: 8546160
Wegener granulomatosis PMID: 20049410

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
16084898 Endometrio
sis
IL-2R beta-627*C homozygote, IL-12R beta 1 codon 37, IL-18 105

IL-2R beta
IL-18
Show abstract