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The protein encoded by this gene is a member of the interleukin 1 receptor family. An experiment with transient gene expression demonstrated that this receptor was incapable of binding to interleukin 1 alpha and interleukin 1 beta with high affinity. This gene and four other interleukin 1 receptor family genes, including interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2), interleukin 1 receptor-like 1 (IL1RL1), and interleukin 18 receptor 1 (IL18R1), form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. [provided by RefSeq, Jul 2008]
IL1RL2 (Interleukin 1 Receptor Like 2) is a Protein Coding gene. Diseases associated with IL1RL2 include Familial Cold Autoinflammatory Syndrome 2 and Pustulosis Of Palm And Sole. Among its related pathways are Innate Immune System and PEDF Induced Signaling. Gene Ontology (GO) annotations related to this gene include interleukin-1 receptor activity and interleukin-1, type I, activating receptor activity. An important paralog of this gene is IL1R1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004908 | interleukin-1 receptor activity | TAS | 1833184 |
GO:0004909 | interleukin-1, type I, activating receptor activity | IEA | -- |
GO:0005515 | protein binding | IEA | -- |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0050135 | NAD(P)+ nucleosidase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS | 1833184 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cytokine Signaling in Immune system | ||
2 | PEDF Induced Signaling | ||
3 | Toll-Like receptor Signaling Pathways | ||
4 | Innate Immune System |
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|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002376 | immune system process | IEA | -- |
GO:0006954 | inflammatory response | IEA | -- |
GO:0006968 | cellular defense response | TAS | 8332913 |
GO:0007165 | signal transduction | TAS | 1833184 |
GO:0019221 | cytokine-mediated signaling pathway | TAS | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||
SP2: | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | IL1RL2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | IL1RL2 30 |
|
||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | IL1RL2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Il1rl2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Il1rl2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | IL1RL2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | IL1RL2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | IL1R1 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | LOC799279 30 |
|
||
CABZ01054962.1 31 |
|
ManyToMany | |||
CABZ01054965.1 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs13405631 | Benign: not provided. - | 102,212,160(+) |
T/Cp.Ile237Thr NM_003854.4(IL1RL2):c.710T>C (p.Ile237Thr) |
MISSENSE_VARIANT,INTRON | |
rs139406977 | Likely Benign: not provided | 102,235,264(+) |
C/T NM_003854.4(IL1RL2):c.1665C>T (p.Cys555=) |
SYNONYMOUS | |
rs141789680 | Likely Benign: not provided | 102,235,210(+) |
G/T NM_003854.4(IL1RL2):c.1611G>T (p.Pro537=) |
SYNONYMOUS | |
rs33946385 | Benign: not provided. - | 102,225,960(+) |
G/Ap.Val352Ile NM_003854.4(IL1RL2):c.1054G>A (p.Val352Ile) |
MISSENSE | |
rs2302612 | - |
p.Leu550Pro |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2564673 | CNV | deletion | 19546169 |
esv2720460 | CNV | deletion | 23290073 |
esv2720462 | CNV | deletion | 23290073 |
esv3559865 | CNV | deletion | 23714750 |
esv3583991 | CNV | loss | 25503493 |
nsv1138823 | CNV | deletion | 24896259 |
nsv582555 | CNV | gain | 21841781 |
nsv582556 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
familial cold autoinflammatory syndrome 2 |
|
|
pustulosis of palm and sole |
|
|
psoriasis 14, pustular |
|
|
geographic tongue |
|
|
lateral sinus thrombosis |
|
|