IL12RB1 gene

GPTKB entity

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
https://www.w3.org/2000/01/rdf-schema#label IL12RB1 gene
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