Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3594
Gene name	Interleukin 12 receptor subunit beta 1
Gene symbol	IL12RB1
Synonyms (NCBI Gene)	CD212IL-12R-BETA1IL12RBIMD30
Chromosome	19
Chromosome location	19p13.11
Summary	The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein f

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SNP ID	Visualize variation	Clinical significance	Consequence
rs11575925	G>C	Conflicting-interpretations-of-pathogenicity	Missense variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs121434492	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs121434493	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs121434494	G>A	Pathogenic	Coding sequence variant, missense variant
rs121434495	A>G	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs147766868	G>A,C,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs554063682	A>C	Pathogenic	Splice donor variant, genic downstream transcript variant
rs564884307	C>A,T	Uncertain-significance, pathogenic	5 prime UTR variant, stop gained, missense variant, coding sequence variant
rs587776680	C>G,T	Pathogenic	Splice donor variant
rs756272570	C>G,T	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1057524791	A>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1202592147	G>A,C	Pathogenic	Synonymous variant, genic upstream transcript variant, upstream transcript variant, stop gained, coding sequence variant
rs1476855887	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555782866	T>A	Pathogenic	Coding sequence variant, stop gained
rs1568515222	CCCG>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1599555124	T>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant

295

Show/Hide all (295)

miRTarBase ID	miRNA	Experiments	Reference
MIRT756167	hsa-miR-146a-5p	Luciferase reporter assayWestern blottingqRT-PCRImmunohistochemistry (IHC)Flow cytometry	35819446
MIRT1063613	hsa-miR-1225-3p	CLIP-seq
MIRT1063614	hsa-miR-1228	CLIP-seq
MIRT1063615	hsa-miR-1233	CLIP-seq
MIRT1063616	hsa-miR-1273f	CLIP-seq
MIRT1063617	hsa-miR-1277	CLIP-seq
MIRT1063618	hsa-miR-1285	CLIP-seq
MIRT1063619	hsa-miR-1293	CLIP-seq
MIRT1063620	hsa-miR-2114	CLIP-seq
MIRT1063621	hsa-miR-24	CLIP-seq
MIRT1063622	hsa-miR-3122	CLIP-seq
MIRT1063623	hsa-miR-3137	CLIP-seq
MIRT1063624	hsa-miR-3165	CLIP-seq
MIRT1063625	hsa-miR-3187-5p	CLIP-seq
MIRT1063626	hsa-miR-3190	CLIP-seq
MIRT1063627	hsa-miR-3192	CLIP-seq
MIRT1063628	hsa-miR-3202	CLIP-seq
MIRT1063629	hsa-miR-323-5p	CLIP-seq
MIRT1063630	hsa-miR-342-3p	CLIP-seq
MIRT1063631	hsa-miR-3614-5p	CLIP-seq
MIRT1063632	hsa-miR-3616-3p	CLIP-seq
MIRT1063633	hsa-miR-3622b-5p	CLIP-seq
MIRT1063634	hsa-miR-3665	CLIP-seq
MIRT1063635	hsa-miR-3672	CLIP-seq
MIRT1063636	hsa-miR-3689a-3p	CLIP-seq
MIRT1063637	hsa-miR-3689c	CLIP-seq
MIRT1063638	hsa-miR-3714	CLIP-seq
MIRT1063639	hsa-miR-3913-5p	CLIP-seq
MIRT1063640	hsa-miR-3922-5p	CLIP-seq
MIRT1063641	hsa-miR-3926	CLIP-seq
MIRT1063642	hsa-miR-3929	CLIP-seq
MIRT1063643	hsa-miR-3934	CLIP-seq
MIRT1063644	hsa-miR-3945	CLIP-seq
MIRT1063645	hsa-miR-4253	CLIP-seq
MIRT1063646	hsa-miR-4284	CLIP-seq
MIRT1063647	hsa-miR-4314	CLIP-seq
MIRT1063648	hsa-miR-4419b	CLIP-seq
MIRT1063649	hsa-miR-4433	CLIP-seq
MIRT1063650	hsa-miR-4436b-3p	CLIP-seq
MIRT1063651	hsa-miR-4459	CLIP-seq
MIRT1063652	hsa-miR-4478	CLIP-seq
MIRT1063653	hsa-miR-4483	CLIP-seq
MIRT1063654	hsa-miR-4505	CLIP-seq
MIRT1063655	hsa-miR-4533	CLIP-seq
MIRT1063656	hsa-miR-4646-5p	CLIP-seq
MIRT1063657	hsa-miR-4721	CLIP-seq
MIRT1063658	hsa-miR-4722-5p	CLIP-seq
MIRT1063659	hsa-miR-4728-5p	CLIP-seq
MIRT1063660	hsa-miR-4733-5p	CLIP-seq
MIRT1063661	hsa-miR-4736	CLIP-seq
MIRT1063662	hsa-miR-4738-3p	CLIP-seq
MIRT1063663	hsa-miR-4768-3p	CLIP-seq
MIRT1063664	hsa-miR-4786-5p	CLIP-seq
MIRT1063665	hsa-miR-548s	CLIP-seq
MIRT1063666	hsa-miR-612	CLIP-seq
MIRT1063667	hsa-miR-627	CLIP-seq
MIRT1063668	hsa-miR-654-3p	CLIP-seq
MIRT1063669	hsa-miR-661	CLIP-seq
MIRT1063670	hsa-miR-665	CLIP-seq
MIRT1063671	hsa-miR-769-5p	CLIP-seq
MIRT1063672	hsa-miR-876-3p	CLIP-seq
MIRT1063673	hsa-miR-924	CLIP-seq
MIRT1063674	hsa-miR-940	CLIP-seq
MIRT1063649	hsa-miR-4433	CLIP-seq
MIRT1063651	hsa-miR-4459	CLIP-seq
MIRT1063663	hsa-miR-4768-3p	CLIP-seq
MIRT1063613	hsa-miR-1225-3p	CLIP-seq
MIRT1063614	hsa-miR-1228	CLIP-seq
MIRT1063615	hsa-miR-1233	CLIP-seq
MIRT1063618	hsa-miR-1285	CLIP-seq
MIRT1063619	hsa-miR-1293	CLIP-seq
MIRT1063620	hsa-miR-2114	CLIP-seq
MIRT1063622	hsa-miR-3122	CLIP-seq
MIRT1063623	hsa-miR-3137	CLIP-seq
MIRT2015034	hsa-miR-3145-5p	CLIP-seq
MIRT1063624	hsa-miR-3165	CLIP-seq
MIRT1063625	hsa-miR-3187-5p	CLIP-seq
MIRT1063626	hsa-miR-3190	CLIP-seq
MIRT1063627	hsa-miR-3192	CLIP-seq
MIRT1063628	hsa-miR-3202	CLIP-seq
MIRT1063631	hsa-miR-3614-5p	CLIP-seq
MIRT2015035	hsa-miR-3622a-3p	CLIP-seq
MIRT2015036	hsa-miR-3622b-3p	CLIP-seq
MIRT1063634	hsa-miR-3665	CLIP-seq
MIRT1063636	hsa-miR-3689a-3p	CLIP-seq
MIRT1063637	hsa-miR-3689c	CLIP-seq
MIRT1063638	hsa-miR-3714	CLIP-seq
MIRT1063639	hsa-miR-3913-5p	CLIP-seq
MIRT1063640	hsa-miR-3922-5p	CLIP-seq
MIRT1063641	hsa-miR-3926	CLIP-seq
MIRT1063642	hsa-miR-3929	CLIP-seq
MIRT1063647	hsa-miR-4314	CLIP-seq
MIRT1063648	hsa-miR-4419b	CLIP-seq
MIRT1063649	hsa-miR-4433	CLIP-seq
MIRT1063651	hsa-miR-4459	CLIP-seq
MIRT1063652	hsa-miR-4478	CLIP-seq
MIRT1063653	hsa-miR-4483	CLIP-seq
MIRT1063655	hsa-miR-4533	CLIP-seq
MIRT1063656	hsa-miR-4646-5p	CLIP-seq
MIRT1063659	hsa-miR-4728-5p	CLIP-seq
MIRT1063660	hsa-miR-4733-5p	CLIP-seq
MIRT1063661	hsa-miR-4736	CLIP-seq
MIRT1063663	hsa-miR-4768-3p	CLIP-seq
MIRT1063664	hsa-miR-4786-5p	CLIP-seq
MIRT2015037	hsa-miR-485-5p	CLIP-seq
MIRT2015038	hsa-miR-508-5p	CLIP-seq
MIRT2015039	hsa-miR-520a-5p	CLIP-seq
MIRT2015040	hsa-miR-525-5p	CLIP-seq
MIRT1063665	hsa-miR-548s	CLIP-seq
MIRT1063666	hsa-miR-612	CLIP-seq
MIRT1063667	hsa-miR-627	CLIP-seq
MIRT1063668	hsa-miR-654-3p	CLIP-seq
MIRT1063669	hsa-miR-661	CLIP-seq
MIRT1063670	hsa-miR-665	CLIP-seq
MIRT1063673	hsa-miR-924	CLIP-seq
MIRT1063674	hsa-miR-940	CLIP-seq
MIRT1063613	hsa-miR-1225-3p	CLIP-seq
MIRT1063614	hsa-miR-1228	CLIP-seq
MIRT1063615	hsa-miR-1233	CLIP-seq
MIRT1063618	hsa-miR-1285	CLIP-seq
MIRT1063620	hsa-miR-2114	CLIP-seq
MIRT1063622	hsa-miR-3122	CLIP-seq
MIRT1063623	hsa-miR-3137	CLIP-seq
MIRT2015034	hsa-miR-3145-5p	CLIP-seq
MIRT1063624	hsa-miR-3165	CLIP-seq
MIRT1063625	hsa-miR-3187-5p	CLIP-seq
MIRT1063626	hsa-miR-3190	CLIP-seq
MIRT1063628	hsa-miR-3202	CLIP-seq
MIRT1063629	hsa-miR-323-5p	CLIP-seq
MIRT1063631	hsa-miR-3614-5p	CLIP-seq
MIRT1063632	hsa-miR-3616-3p	CLIP-seq
MIRT2015035	hsa-miR-3622a-3p	CLIP-seq
MIRT2015036	hsa-miR-3622b-3p	CLIP-seq
MIRT1063634	hsa-miR-3665	CLIP-seq
MIRT1063635	hsa-miR-3672	CLIP-seq
MIRT1063636	hsa-miR-3689a-3p	CLIP-seq
MIRT1063637	hsa-miR-3689c	CLIP-seq
MIRT1063638	hsa-miR-3714	CLIP-seq
MIRT1063639	hsa-miR-3913-5p	CLIP-seq
MIRT1063641	hsa-miR-3926	CLIP-seq
MIRT1063642	hsa-miR-3929	CLIP-seq
MIRT1063643	hsa-miR-3934	CLIP-seq
MIRT1063648	hsa-miR-4419b	CLIP-seq
MIRT1063649	hsa-miR-4433	CLIP-seq
MIRT1063650	hsa-miR-4436b-3p	CLIP-seq
MIRT1063651	hsa-miR-4459	CLIP-seq
MIRT1063652	hsa-miR-4478	CLIP-seq
MIRT1063655	hsa-miR-4533	CLIP-seq
MIRT1063657	hsa-miR-4721	CLIP-seq
MIRT1063658	hsa-miR-4722-5p	CLIP-seq
MIRT1063659	hsa-miR-4728-5p	CLIP-seq
MIRT1063660	hsa-miR-4733-5p	CLIP-seq
MIRT1063661	hsa-miR-4736	CLIP-seq
MIRT1063663	hsa-miR-4768-3p	CLIP-seq
MIRT1063664	hsa-miR-4786-5p	CLIP-seq
MIRT2015037	hsa-miR-485-5p	CLIP-seq
MIRT2015038	hsa-miR-508-5p	CLIP-seq
MIRT2015039	hsa-miR-520a-5p	CLIP-seq
MIRT2015040	hsa-miR-525-5p	CLIP-seq
MIRT1063665	hsa-miR-548s	CLIP-seq
MIRT1063666	hsa-miR-612	CLIP-seq
MIRT1063668	hsa-miR-654-3p	CLIP-seq
MIRT1063669	hsa-miR-661	CLIP-seq
MIRT1063670	hsa-miR-665	CLIP-seq
MIRT1063671	hsa-miR-769-5p	CLIP-seq
MIRT1063672	hsa-miR-876-3p	CLIP-seq
MIRT1063674	hsa-miR-940	CLIP-seq
MIRT1063618	hsa-miR-1285	CLIP-seq
MIRT1063619	hsa-miR-1293	CLIP-seq
MIRT1063620	hsa-miR-2114	CLIP-seq
MIRT1063622	hsa-miR-3122	CLIP-seq
MIRT1063623	hsa-miR-3137	CLIP-seq
MIRT1063624	hsa-miR-3165	CLIP-seq
MIRT1063625	hsa-miR-3187-5p	CLIP-seq
MIRT1063626	hsa-miR-3190	CLIP-seq
MIRT1063628	hsa-miR-3202	CLIP-seq
MIRT1063631	hsa-miR-3614-5p	CLIP-seq
MIRT1063634	hsa-miR-3665	CLIP-seq
MIRT1063636	hsa-miR-3689a-3p	CLIP-seq
MIRT1063637	hsa-miR-3689c	CLIP-seq
MIRT1063638	hsa-miR-3714	CLIP-seq
MIRT1063639	hsa-miR-3913-5p	CLIP-seq
MIRT1063641	hsa-miR-3926	CLIP-seq
MIRT1063642	hsa-miR-3929	CLIP-seq
MIRT1063648	hsa-miR-4419b	CLIP-seq
MIRT1063649	hsa-miR-4433	CLIP-seq
MIRT1063651	hsa-miR-4459	CLIP-seq
MIRT1063652	hsa-miR-4478	CLIP-seq
MIRT1063653	hsa-miR-4483	CLIP-seq
MIRT1063655	hsa-miR-4533	CLIP-seq
MIRT1063659	hsa-miR-4728-5p	CLIP-seq
MIRT1063660	hsa-miR-4733-5p	CLIP-seq
MIRT1063661	hsa-miR-4736	CLIP-seq
MIRT1063663	hsa-miR-4768-3p	CLIP-seq
MIRT1063664	hsa-miR-4786-5p	CLIP-seq
MIRT2015037	hsa-miR-485-5p	CLIP-seq
MIRT1063665	hsa-miR-548s	CLIP-seq
MIRT1063666	hsa-miR-612	CLIP-seq
MIRT1063668	hsa-miR-654-3p	CLIP-seq
MIRT1063669	hsa-miR-661	CLIP-seq
MIRT1063674	hsa-miR-940	CLIP-seq
MIRT1063614	hsa-miR-1228	CLIP-seq
MIRT1063620	hsa-miR-2114	CLIP-seq
MIRT1063622	hsa-miR-3122	CLIP-seq
MIRT1063623	hsa-miR-3137	CLIP-seq
MIRT2015034	hsa-miR-3145-5p	CLIP-seq
MIRT1063636	hsa-miR-3689a-3p	CLIP-seq
MIRT1063637	hsa-miR-3689c	CLIP-seq
MIRT1063639	hsa-miR-3913-5p	CLIP-seq
MIRT1063642	hsa-miR-3929	CLIP-seq
MIRT1063648	hsa-miR-4419b	CLIP-seq
MIRT1063652	hsa-miR-4478	CLIP-seq
MIRT1063659	hsa-miR-4728-5p	CLIP-seq
MIRT1063660	hsa-miR-4733-5p	CLIP-seq
MIRT2015037	hsa-miR-485-5p	CLIP-seq
MIRT2015038	hsa-miR-508-5p	CLIP-seq
MIRT2015039	hsa-miR-520a-5p	CLIP-seq
MIRT2015040	hsa-miR-525-5p	CLIP-seq
MIRT1063668	hsa-miR-654-3p	CLIP-seq
MIRT1063614	hsa-miR-1228	CLIP-seq
MIRT2550774	hsa-miR-1283	CLIP-seq
MIRT1063619	hsa-miR-1293	CLIP-seq
MIRT1063620	hsa-miR-2114	CLIP-seq
MIRT1063622	hsa-miR-3122	CLIP-seq
MIRT1063623	hsa-miR-3137	CLIP-seq
MIRT2015034	hsa-miR-3145-5p	CLIP-seq
MIRT1063624	hsa-miR-3165	CLIP-seq
MIRT2550775	hsa-miR-3613-3p	CLIP-seq
MIRT1063631	hsa-miR-3614-5p	CLIP-seq
MIRT2015035	hsa-miR-3622a-3p	CLIP-seq
MIRT2015036	hsa-miR-3622b-3p	CLIP-seq
MIRT1063634	hsa-miR-3665	CLIP-seq
MIRT2550776	hsa-miR-3675-3p	CLIP-seq
MIRT1063636	hsa-miR-3689a-3p	CLIP-seq
MIRT1063637	hsa-miR-3689c	CLIP-seq
MIRT1063638	hsa-miR-3714	CLIP-seq
MIRT1063639	hsa-miR-3913-5p	CLIP-seq
MIRT1063641	hsa-miR-3926	CLIP-seq
MIRT1063642	hsa-miR-3929	CLIP-seq
MIRT1063648	hsa-miR-4419b	CLIP-seq
MIRT2550777	hsa-miR-4421	CLIP-seq
MIRT1063652	hsa-miR-4478	CLIP-seq
MIRT1063653	hsa-miR-4483	CLIP-seq
MIRT1063654	hsa-miR-4505	CLIP-seq
MIRT2550778	hsa-miR-4684-5p	CLIP-seq
MIRT1063659	hsa-miR-4728-5p	CLIP-seq
MIRT1063660	hsa-miR-4733-5p	CLIP-seq
MIRT1063661	hsa-miR-4736	CLIP-seq
MIRT1063662	hsa-miR-4738-3p	CLIP-seq
MIRT1063664	hsa-miR-4786-5p	CLIP-seq
MIRT2015037	hsa-miR-485-5p	CLIP-seq
MIRT2015038	hsa-miR-508-5p	CLIP-seq
MIRT2550779	hsa-miR-548c-3p	CLIP-seq
MIRT1063665	hsa-miR-548s	CLIP-seq
MIRT2550780	hsa-miR-593	CLIP-seq
MIRT1063668	hsa-miR-654-3p	CLIP-seq
MIRT1063674	hsa-miR-940	CLIP-seq
MIRT1063614	hsa-miR-1228	CLIP-seq
MIRT2550774	hsa-miR-1283	CLIP-seq
MIRT1063619	hsa-miR-1293	CLIP-seq
MIRT1063620	hsa-miR-2114	CLIP-seq
MIRT1063622	hsa-miR-3122	CLIP-seq
MIRT1063623	hsa-miR-3137	CLIP-seq
MIRT2015034	hsa-miR-3145-5p	CLIP-seq
MIRT1063624	hsa-miR-3165	CLIP-seq
MIRT2550775	hsa-miR-3613-3p	CLIP-seq
MIRT1063631	hsa-miR-3614-5p	CLIP-seq
MIRT1063634	hsa-miR-3665	CLIP-seq
MIRT2550776	hsa-miR-3675-3p	CLIP-seq
MIRT1063636	hsa-miR-3689a-3p	CLIP-seq
MIRT1063637	hsa-miR-3689c	CLIP-seq
MIRT1063638	hsa-miR-3714	CLIP-seq
MIRT1063639	hsa-miR-3913-5p	CLIP-seq
MIRT1063642	hsa-miR-3929	CLIP-seq
MIRT1063648	hsa-miR-4419b	CLIP-seq
MIRT2550777	hsa-miR-4421	CLIP-seq
MIRT1063649	hsa-miR-4433	CLIP-seq
MIRT1063651	hsa-miR-4459	CLIP-seq
MIRT1063652	hsa-miR-4478	CLIP-seq
MIRT1063653	hsa-miR-4483	CLIP-seq
MIRT2550778	hsa-miR-4684-5p	CLIP-seq
MIRT1063659	hsa-miR-4728-5p	CLIP-seq
MIRT1063660	hsa-miR-4733-5p	CLIP-seq
MIRT1063661	hsa-miR-4736	CLIP-seq
MIRT1063662	hsa-miR-4738-3p	CLIP-seq
MIRT1063663	hsa-miR-4768-3p	CLIP-seq
MIRT1063664	hsa-miR-4786-5p	CLIP-seq
MIRT2015037	hsa-miR-485-5p	CLIP-seq
MIRT2015038	hsa-miR-508-5p	CLIP-seq
MIRT2015039	hsa-miR-520a-5p	CLIP-seq
MIRT2015040	hsa-miR-525-5p	CLIP-seq
MIRT2550779	hsa-miR-548c-3p	CLIP-seq
MIRT2550780	hsa-miR-593	CLIP-seq
MIRT1063668	hsa-miR-654-3p	CLIP-seq
MIRT1063674	hsa-miR-940	CLIP-seq

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001916	Process	Positive regulation of T cell mediated cytotoxicity	ISS
GO:0002230	Process	Positive regulation of defense response to virus by host	IDA	12421946
GO:0002230	Process	Positive regulation of defense response to virus by host	ISS
GO:0002827	Process	Positive regulation of T-helper 1 type immune response	IDA	15114670
GO:0002827	Process	Positive regulation of T-helper 1 type immune response	ISS
GO:0004896	Function	Cytokine receptor activity	IBA
GO:0004896	Function	Cytokine receptor activity	IEA
GO:0004896	Function	Cytokine receptor activity	TAS	8943050
GO:0005143	Function	Interleukin-12 receptor binding	IPI	12023369
GO:0005886	Component	Plasma membrane	IC	8943050
GO:0005886	Component	Plasma membrane	TAS
GO:0007165	Process	Signal transduction	IC	8943050
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0009897	Component	External side of plasma membrane	IBA
GO:0015026	Function	Coreceptor activity	IDA	29287995
GO:0016020	Component	Membrane	IEA
GO:0016517	Function	Interleukin-12 receptor activity	IDA	8943050
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS	7911493
GO:0019955	Function	Cytokine binding	IBA
GO:0032729	Process	Positive regulation of type II interferon production	IDA	11114383
GO:0032729	Process	Positive regulation of type II interferon production	IMP	14635048
GO:0035722	Process	Interleukin-12-mediated signaling pathway	IDA	7528775, 7638186, 8943050
GO:0035722	Process	Interleukin-12-mediated signaling pathway	IDA	8943050
GO:0038155	Process	Interleukin-23-mediated signaling pathway	IDA	7528775, 12023369
GO:0038155	Process	Interleukin-23-mediated signaling pathway	IDA	29287995
GO:0042019	Function	Interleukin-23 binding	IPI	12023369
GO:0042020	Function	Interleukin-23 receptor activity	IDA	12023369
GO:0042022	Component	Interleukin-12 receptor complex	IDA	12023369
GO:0042104	Process	Positive regulation of activated T cell proliferation	IDA	11114383
GO:0043235	Component	Receptor complex	IBA
GO:0043382	Process	Positive regulation of memory T cell differentiation	ISS
GO:0045063	Process	T-helper 1 cell differentiation	IDA	14688310
GO:0071346	Process	Cellular response to type II interferon	IDA	12023369
GO:0072536	Component	Interleukin-23 receptor complex	IDA	12023369
GO:0072536	Component	Interleukin-23 receptor complex	IEA
GO:2000318	Process	Positive regulation of T-helper 17 type immune response	ISS
GO:2000330	Process	Positive regulation of T-helper 17 cell lineage commitment	ISS

MIM	HGNC	e!Ensembl
601604	5971	ENSG00000096996

P42701

Protein name

Interleukin-12 receptor subunit beta-1 (IL-12 receptor subunit beta-1) (IL-12R subunit beta-1) (IL-12R-beta-1) (IL-12RB1) (IL-12 receptor beta component) (CD antigen CD212)

Protein function

Functions as an interleukin receptor which binds interleukin-12 with low affinity and is involved in IL12 transduction. Associated with IL12RB2 it forms a functional, high affinity receptor for IL12. Also associates with IL23R to form the interl

PDB

6WDP , 6WDQ , 8C7M , 8ODX , 8OE4 , 8XRP , 8YI7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00041	fn3	447 → 532	Fibronectin type III domain	Domain

Sequence

MEPLVTWVVPLLFLFLLSRQGAACRTSECCFQDPPYPDADSGSASGPRDLRCYRISSDRY
ECSWQYEGPTAGVSHFLRCCLSSGRCCYFAAGSATRLQFSDQAGVSVLYTVTLWVESWAR
NQTEKSPEVTLQLYNSVKYEPPLGDIKVSKLAGQLRMEWETPDNQVGAEVQFRHRTPSSP
WKLGDCGPQDDDTESCLCPLEMNVAQEFQLRRRQLGSQGSSWSKWSSPVCVPPENPPQPQ
VRFSVEQLGQDGRRRLTLKEQPTQLELPEGCQGLAPGTEVTYRLQLHMLSCPCKAKATRT
LHLGKMPYLSGAAYNVAVISSNQFGPGLNQTWHIPADTHTEPVALNISVGTNGTTMYWPA
RAQSMTYCIEWQPVGQDGGLATCSLTAPQDPDPAGMATYSWSRESGAMGQEKCYYITIFA
SAHPEKLTLWSTVLSTYHFGGNASAAGTPHHVSVKNHSLDSVSVDWAPSLLSTCPGVLKE
YVVRCRDEDSKQVSEHPVQPTETQVTLSGLRAGVAYTVQVRADTAWLRGVWSQPQRFSIE
VQVSDWLIFFASLGSFLSILLVGVLGYLGLNRAARHLCPPLPTPCASSAIEFPGGKETWQ
WINPVDFQEEASLQEALVVEMSWDKGERTEPLEKTELPEGAPELALDTELSLEDGDRCKA
KM

Sequence length

662

Interactions

View interactions

	KEGG		Reactome
	Cytokine-cytokine receptor interaction JAK-STAT signaling pathway Th1 and Th2 cell differentiation Th17 cell differentiation Pathways in cancer Inflammatory bowel disease		Interleukin-12 signaling Interleukin-23 signaling

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
IL12RB1-related disorder	Pathogenic	rs372833507, rs121434492	RCV004756841 RCV004755723	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inherited Immunodeficiency Diseases	Pathogenic	rs147766868	RCV001027584	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Pathogenic	rs554063682	RCV005901721	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	Pathogenic; Likely pathogenic	rs781736642, rs576374797, rs2146389344, rs1169002203, rs144702323, rs2146216467, rs754993079, rs2146259279, rs2146310027, rs762747908, rs748173451, rs1470879267, rs991981668, rs2146215644, rs2146200643 View all (34 more)	RCV001388902 RCV001390634 RCV001779409 RCV001782295 RCV001824251 View all (44 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mycobacterium tuberculosis, susceptibility to	Pathogenic	rs762747908	RCV002283572	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunodeficiency 27A	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 30	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CHOLANGITIS	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (98)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	24997981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	20350312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	28266204	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	23673284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	21905505, 30255293, 30740107	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	22325360, 29256176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	22325360, 29256176	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	28266204	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28804486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	12932289, 24859272	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	24859272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	20350312	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	CTD_human_DG	15829914		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	23996684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchopneumonia	Bronchopneumonia	Pubtator	22992471, 23410226	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Capillary malformation (disorder)	Capillary malformation	BEFREE	22838497, 26154078		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28732507	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	36740310	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	28266204	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	14616794	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	33190167	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conjugated hyperbilirubinemia	Conjugated hyperbilirubinemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	19235914, 19249008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	16159888, 20060272, 29380403, 30223113		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	LHGDN	16159888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatographic urticaria	Dermatographic urticaria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	12700597		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	28616206		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	16159888, 20060272, 26343451, 29380403, 30223113		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	Pubtator	34390440	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	16084898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	22740240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	22740240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal inflammation	Gastrointestinal inflammation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hidradenitis Suppurativa	Hidradenitis suppurativa	BEFREE	23557799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Histiocytosis haematophagic	Histiocytosis Haematophagic	BEFREE	15736007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypergammaglobulinemia	Hypergammaglobulinemia	Pubtator	26162572	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogammaglobulinemia	Hypogammaglobulinemia	BEFREE	28865061		★★★★★ ★☆☆☆☆ Found in Text Mining only
IgA Deficiency	Selective immunoglobulin a deficiency	Pubtator	21812800	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 30	Immunodeficiency	UNIPROT_DG	11424023		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 30	Immunodeficiency	CLINVAR_DG	12591909, 21057261, 27141500, 9603733		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 30	Immunodeficiency	GENOMICS_ENGLAND_DG	21487897		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 30	Immunodeficiency	BEFREE	21812800, 25467645, 28450854, 30740107, 31367980		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 30	Immunodeficiency	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 30	Immunodeficiency	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunoglobulin A deficiency (disorder)	Immunoglobulin A deficiency	BEFREE	21812800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	25467645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	25761185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Interferon gamma, receptor 1, deficiency	Interferon Gamma Receptor Deficiency	BEFREE	30268380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Interleukin 2 Receptor Alpha Deficiency of	Interleukin 2 receptor deficiency	Pubtator	19839503	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Interleukin 2 Receptor Alpha Deficiency of	Interleukin 2 receptor deficiency	Pubtator	22992471	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	28865061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	17222831	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	20639880	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	15941730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphadenitis	Lymphadenitis	BEFREE	21905505, 29025965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	22524835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	21418175		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	22740240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25467645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29073075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23996684		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15087447		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	Pubtator	19839503	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	GWASCAT_DG	30837455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	37175405	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	BEFREE	22523911		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	Pubtator	30255293	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cholangitis	Biliary Cholangitis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	24648611, 28299343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37108754	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	22909235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	15993716		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sandhoff Disease	Sandhoff disease	Pubtator	36740310	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	36192705	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	32977850	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	18972195		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	18478121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	11442758	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sicca Syndrome	Sjogren`s Syndrome	BEFREE	28804486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	23557799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25467645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	GWASCAT_DG	31672989		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Takayasu Arteritis	Takayasu Arteritis	BEFREE	26987707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic Syndrome	BEFREE	24859272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic syndrome	Pubtator	24859272	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vasculitis, Leukocytoclastic, Cutaneous	Vasculitis	BEFREE	23004925		★★★★★ ★☆☆☆☆ Found in Text Mining only

IL12RB1 (interleukin 12 receptor subunit beta 1)