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The protein encoded by this gene is a type I transmembrane protein identified as a subunit of the interleukin 12 receptor complex. The coexpression of this and IL12RB1 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. The expression of this gene is up-regulated by interferon gamma in Th1 cells, and plays a role in Th1 cell differentiation. The up-regulation of this gene is found to be associated with a number of infectious diseases, such as Crohn's disease and leprosy, which is thought to contribute to the inflammatory response and host defense. Several transcript variants encoding different isoforms and non-protein coding transcripts have been found for this gene. [provided by RefSeq, Apr 2012]
IL12RB2 (Interleukin 12 Receptor Subunit Beta 2) is a Protein Coding gene. Diseases associated with IL12RB2 include Crohn's Disease and Lepromatous Leprosy. Among its related pathways are AKT Siganaling Pathway and Th17 cell differentiation. Gene Ontology (GO) annotations related to this gene include protein kinase binding and cytokine receptor activity. An important paralog of this gene is CSF3R.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004896 | cytokine receptor activity | IEA,TAS | 8943050 |
GO:0005515 | protein binding | IEA | -- |
GO:0019901 | protein kinase binding | IEA | -- |
GO:0019955 | cytokine binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IDA,TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS | 8943050 |
GO:0009897 | external side of plasma membrane | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Th17 cell differentiation |
Immune response IL-22 signaling pathway
.36
|
|
2 | IL27-mediated signaling events | ||
3 | Akt Signaling |
Akt Signaling
.60
p38 Signaling
.60
|
Tec Kinases Signaling
.55
|
4 | PEDF Induced Signaling |
STAT3 Pathway
.47
|
|
5 | JAK-STAT signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007166 | cell surface receptor signaling pathway | TAS | 8943050 |
GO:0008284 | positive regulation of cell proliferation | TAS | 8943050 |
GO:0018108 | peptidyl-tyrosine phosphorylation | IEA | -- |
GO:0019221 | cytokine-mediated signaling pathway | IEA,IBA | 21873635 |
GO:0032496 | response to lipopolysaccharide | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | · | 17c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | IL12RB2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | IL12RB2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | IL12RB2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Il12rb2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Il12rb2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | IL12RB2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | IL12RB2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | IL12RB2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | il12rb2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | il12rb2 30 31 |
|
OneToMany | |
IL12RB2 (2 of 2) 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
713673 | Benign: not provided | 67,328,273(+) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
715704 | Benign: not provided | 67,321,618(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
719338 | Benign: not provided | 67,372,638(+) | C/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT | |
750364 | Likely Benign: not provided | 67,320,374(+) | A/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
773812 | Benign: not provided | 67,351,089(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
crohn's disease |
|
|
lepromatous leprosy |
|
|
smallpox |
|
|
mumps |
|
|
inflammatory bowel disease |
|
|