Gene table of IL12RB1 : interleukin 12 receptor subunit beta 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with IL12RB1	OMIM link	Number of associated genes	genes
614891	IMMUNODEFICIENCY 30	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	IL12RB1

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Inflammatory bowel disease (IBD)	hsa05321	6.43
Cytokine-cytokine receptor interaction	hsa04060	4.67
Jak-STAT signaling pathway	hsa04630	5.44

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cytokine receptor binding	GO:0005126	4.14
interleukin-23 binding	GO:0042019	9.05
signaling receptor activity	GO:0038023	2.49
protein binding	GO:0005515	0.46
growth factor receptor binding	GO:0070851	4.87
cytokine binding	GO:0019955	5.21
transmembrane signaling receptor activity	GO:0004888	2.57
interleukin-12 receptor binding	GO:0005143	8.13
molecular transducer activity	GO:0060089	2.32
interleukin-23 receptor activity	GO:0042020	9.05
interleukin-12 receptor activity	GO:0016517	9.74
receptor activity	GO:0004872	2.32
signal transducer activity	GO:0004871	2.28
receptor binding	GO:0005102	2.43
cytokine receptor activity	GO:0004896	5.24
transmembrane receptor activity	GO:0099600	2.53
binding	GO:0005488	0.18