Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
Mendelian susceptibility to mycobacterial disease
immunodeficiency 30 |
| gptkbp:discoveredIn |
1996
|
| gptkbp:encodes |
Interleukin-12 receptor subunit beta-1
|
| gptkbp:Entrez_Gene_ID |
3594
|
| gptkbp:expressedIn |
immune cells
|
| gptkbp:function |
forms part of the receptor for interleukin-12 and interleukin-23
|
| gptkbp:HGNC_ID |
HGNC:5977
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_19
gptkb:19p13.1 |
| gptkbp:mutationAssociatedWith |
increased susceptibility to mycobacterial and Salmonella infections
|
| gptkbp:OMIM |
601604
|
| gptkbp:orthologInMouse |
Il12rb1
|
| gptkbp:product |
gptkb:IL-12Rβ1
|
| gptkbp:UniProtID |
P42701
|
| gptkbp:bfsParent |
gptkb:IL-12_receptor
|
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
IL12RB1 gene
|