Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 7850
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol IL1R2   Gene   UCSC   Ensembl
Aliases CD121b, CDw121b, IL-1R-2, IL-1RT-2, IL-1RT2, IL1R2c, IL1RB
Gene name interleukin 1 receptor type 2
Alternate names interleukin-1 receptor type 2, CD121 antigen-like family member B, IL-1 type II receptor, IL-1R-beta, antigen CDw121b, interleukin 1 receptor type II variant 3, interleukin-1 receptor beta, interleukin-1 receptor type II, type II interleukin-1 receptor, beta,
Gene location 2q11.2 (101991804: 102028543)     Exons: 15     NC_000002.12
Gene summary(Entrez) The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This protein binds interleukin alpha (IL1A), interleukin beta (IL1B), and interleukin 1 receptor, type I(IL1R1/IL1RA), and acts as a decoy receptor that inhibits the activity of its ligands. Interleukin 4 (IL4) is reported to antagonize the activity of interleukin 1 by inducing the expression and release of this cytokine. This gene and three other genes form a cytokine receptor gene cluster on chromosome 2q12. Alternative splicing results in multiple transcript variants and protein isoforms. Alternative splicing produces both membrane-bound and soluble proteins. A soluble protein is also produced by proteolytic cleavage. [provided by RefSeq, May 2012]
OMIM 147811

SNPs

 rs2072472

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

CM000664.2   g.102026557A>G
NC_000002.11   g.102643019A>G
NC_000002.12   g.102026557A>G
NM_004633.3   c.1030+304A>G
NR_048564.1   n.1246+304A>G
XR_923024.2   n.4014A>G
rs7561460

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

CM000664.2   g.102000742T>C
NC_000002.11   g.102617204T>C
NC_000002.12   g.102000742T>C
NM_001261419.1   c.-61-7773T>C
NM_004633.3   c.-61-7773T>C
NR_048564.1   n.155+1626T>C

Protein Summary
Protein general information P27930  

Name: Interleukin 1 receptor type 2 (IL 1R 2) (IL 1RT 2) (IL 1RT2) (CD121 antigen like family member B) (CDw121b) (IL 1 type II receptor) (Interleukin 1 receptor beta) (IL 1R beta) (Interleukin 1 receptor type II) (CD antigen CD121b) [Cleaved into: Interleukin

Length: 398  Mass: 45,421

Sequence MLRLYVLVMGVSAFTLQPAAHTGAARSCRFRGRHYKREFRLEGEPVALRCPQVPYWLWASVSPRINLTWHKNDSA
RTVPGEEETRMWAQDGALWLLPALQEDSGTYVCTTRNASYCDKMSIELRVFENTDAFLPFISYPQILTLSTSGVL
VCPDLSEFTRDKTDVKIQWYKDSLLLDKDNEKFLSVRGTTHLLVHDVALEDAGYYRCVLTFAHEGQQYNITRSIE
LRIKKKKEETIPVIISPLKTISASLGSRLTIPCKVFLGTGTPLTTMLWWTANDTHIESAYPGGRVTEGPRQEYSE
NNENYIEVPLIFDPVTREDLHMDFKCVVHNTLSFQTLRTTVKEASSTFSWGIVLAPLSLAFLVLGGIWMHRRCKH
RTGKADGLTVLWPHHQDFQSYPK
Structural information
Protein Domains
 Ig-like (18-124)
Ig-like (134-223)
Ig-like (237-349)
Interpro:  IPR007110 IPR013783 IPR003599 IPR003598 IPR015621 IPR004074 IPR004077 IPR013151
Prosite:   PS50835

Pfam:  		 PF00047

PDB:  		 3O4O
PDBsum:   3O4O

DIP:  		 61267
STRING:   ENSP00000330959;
Other Databases GeneCards:  IL1R2;  Malacards:  IL1R2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0004908 interleukin-1 receptor ac
tivity
 TAS molecular_function
GO:0004910 interleukin-1, Type II, b
locking receptor activity
 IEA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005576 extracellular region
 IEA cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0006955 immune response
 TAS biological_process
GO:0016021 integral component of mem
brane
 IEA cellular_component
GO:0019221 cytokine-mediated signali
ng pathway
 IEA biological_process
GO:0004908 interleukin-1 receptor ac
tivity
 IEA molecular_function
GO:0004908 interleukin-1 receptor ac
tivity
 TAS molecular_function
GO:0004910 interleukin-1, Type II, b
locking receptor activity
 IEA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 IEA cellular_component
GO:0005886 plasma membrane
 IEA cellular_component
GO:0005886 plasma membrane
 IEA cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0006955 immune response
 TAS biological_process
GO:0016020 membrane
 IEA cellular_component
GO:0016021 integral component of mem
brane
 IEA cellular_component
GO:0019221 cytokine-mediated signali
ng pathway
 IEA biological_process
GO:0004908 interleukin-1 receptor ac
tivity
 TAS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0006955 immune response
 TAS biological_process

KEGG pathways

hsa04060  Cytokine-cytokine receptor interaction
hsa05166  HTLV-I infection
hsa04010  MAPK signaling pathway
hsa05418  Fluid shear stress and atherosclerosis
hsa05202  Transcriptional misregulation in cancer
hsa04640  Hematopoietic cell lineage
hsa05146  Amoebiasis

Diseases

Associated diseases References
Alzheimer's disease PMID: 15653174
Ankylosing spondylitis PMID: 20062062
Behcet's disease PMID: 20622878
Cancer PMID: 19573080
Endometriosis PMID: 17919610
Periodontitis PMID: 11846196
Endometriosis associated infertility INFBASE21958553
Endometriosis INFBASE21958553
Female infertility INFBASE16046047
Thromboembolism PMID: 17413037
Ulcerative colitis PMID: 21297633

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
16046047 Endometrio
sis
58 (43 with end
ometriosis, 15
without endomet
riosis )
 IL-1alpha
IL-1 sRII and IL-1 Ra
 Show abstract
21958553 Endometrio
sis

Female infertility sIL1RAcP
sIL1R2
IL1B
 Show abstract
17919610 Endometrio
sis
222 (68 normal
women as contro
ls, 154 women w
ith endometrios
is)
 IL1beta
IL1R2 
 Show abstract
17324958 Endometrio
sis

IL1R1
IL1R2
 Show abstract
17517439 Endometrio
sis

IL1R1
IL1R2
 Show abstract
17482186 Endometrio
sis

IL-1 beta
IL-1RII
 Show abstract
12372465 Endometrio
sis
 IL-1RII, IL-1alpha, IL-1beta, MCP-1
117 (79 women w
ith endometrios
is, 38 control
women)
 IL-1RII
 Show abstract
11804955 Endometrio
sis
79 (26 normal w
omen, 53 variou
s degrees of en
dometriosis)
 IL-1RII
 Show abstract
15705625 Endometrio
sis

IL-1RII
 Show abstract
11159185 Endometrio
sis
93 (39 normal w
omen, 54 women
with endometrio
sis)
 IL-1RII
 Show abstract