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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

IL12RB2 Gene

protein-coding GIFtS: 61
GCID: GC01P067773

interleukin 12 receptor, beta 2

Explore 44 diseases affiliated with
IL12RB2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Interleukin 12 Receptor, Beta 2¹ ²		Interleukin-12 Receptor Subunit Beta-2²
IL-12 Receptor Subunit Beta-2² ³		IL-12R-Beta-2¹
IL-12R Subunit Beta-2² ³		IL-12RB2³
Interleukin-12 Receptor Beta-2 Chain²

External Ids:	HGNC: 5972¹	Entrez Gene: 3595²	Ensembl: ENSG00000081985⁷	OMIM: 601642⁵	UniProtKB: Q99665³

Export aliases for IL12RB2 gene to outside databases

Previous GC identifers: GC01P067733 GC01P066704 GC01P067130 GC01P067142 GC01P067485 GC01P067545 GC01P065882

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for IL12RB2:

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)

UniProtKB/Swiss-Prot: I12R2_HUMAN, Q99665

Function: Receptor for interleukin-12. This subunit is the signaling component coupling to the JAK2/STAT4 pathway.

Promotes the proliferation of T-cells as well as NK cells. Induces the promotion of T-cells towards the Th1 phenotype

by strongly enhancing IFN-gamma production

Gene Wiki entry for IL12RB2 (Interleukin 12 receptor, beta 2 subunit)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_032977.9

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the IL12RB2 gene promoter:
STAT5B STAT1 STAT4 STAT6 STAT1beta STAT5A STAT1alpha STAT2 STAT3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: IL12RB2 promoter sequence

Search SABiosciences Chromatin IP Primers for IL12RB2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IL12RB2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p31.3-p31.2 Ensembl cytogenetic band: 1p31.3 HGNC cytogenetic band: 1p31.3-p31.2

IL12RB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IL12RB2 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P067773: view genomic region (about GC identifiers)

Start:	67,773,047 bp from pter	End:	67,862,583 bp from pter
Size:	89,537 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: I12R2_HUMAN, Q99665 (See protein sequence)

Recommended Name: Interleukin-12 receptor subunit beta-2 precursor

Size: 862 amino acids; 97135 Da

Subunit: Heterodimer/heterooligomer; disulfide-linked. The functional high affinity IL12 receptor is composed of I12RB1

and IL12RB2. Il12RB2 binds JAK2 (via its N-terminal) through a membrane-proximal region of the cytoplasmic domain.

Interaction, in vitro and in vivo, with SOCS3 (via its SH2 domain) inhibits the STAT4-mediated activation. Binds STAT4

through a membrane-distal C-terminal region

Subcellular location: Membrane; Single-pass type I membrane protein

Developmental stage: Maximum levels in Th1 cells between day 3 and day 8 of activation

Secondary accessions: B1AN98 B7ZKL9 F5H7L6 Q2M3V3

Alternative splicing: 3 isoforms: Q99665-1 Q99665-2 Q99665-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for IL12RB2: NX_Q99665

Post-translational modifications:

On IL12 binding, phosphorylated on C-terminal tyrosine residues by JAK2. Phosphorylation on Tyr-800 is required for

STAT4 binding and activation, and for SOCS3 binding¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q99665

IL12RB2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001245143.1 NP_001245144.1 NP_001245145.1 NP_001550.1

ENSEMBL proteins:

ENSP00000262345 ENSP00000400959 ENSP00000442443 ENSP00000360039 ENSP00000445276

Human Recombinant Protein Products:

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	Novus Biologicals IL12RB2 Protein Novus Biologicals IL12RB2 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005887	integral to plasma membrane	TAS	8943050
GO:0009897	external side of plasma membrane	IEA	--
GO:0016020	membrane	--	--

IL12RB2 for ontologies About GeneDecksing

IL12RB2 Antibody Products:

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	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for IL12RB2
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

IL12RB2 for domains About GeneDecksing

5 InterPro domains/families:

IPR015321 IL6_recept-bd

IPR010457 IgC2-like_lig-bd

IPR003961 Fibronectin_type3

IPR013783 Ig-like_fold

IPR003529 Hematopoietin_rcpt_Gp130_CS

Graphical View of Domain Structure for InterPro Entry Q99665

ProtoNet protein and cluster: Q99665

2 Blocks protein families:

IPB003529 Long hematopoietin receptor

IPB010457 Ig-like C2-type

UniProtKB/Swiss-Prot: I12R2_HUMAN, Q99665

Domain: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular

transport and cell-surface receptor binding

Domain: The box 1 motif is required for JAK interaction and/or activation

Similarity: Belongs to the type I cytokine receptor family. Type 2 subfamily

Similarity: Contains 5 fibronectin type-III domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: I12R2_HUMAN, Q99665

Function: Receptor for interleukin-12. This subunit is the signaling component coupling to the JAK2/STAT4 pathway.

Promotes the proliferation of T-cells as well as NK cells. Induces the promotion of T-cells towards the Th1 phenotype

by strongly enhancing IFN-gamma production

Induction: In vitro, up-regulated by IFN-alpha

Genatlas biochemistry entry for IL12RB2:

interleukin 12 receptor,subunit B2,low affinity,132kDa,heterodimerizing with IL12RB1,expressed on Th1 cells

miRNA Products:		OriGene 3'-UTR Clone: IL12RB2 Browse MicroRNA Expression Plasmids
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		5 QIAGEN miScript miRNA Assays for microRNAs that regulate IL12RB2:
		hsa-miR-2052 hsa-miR-204 hsa-miR-4309 hsa-miR-211 hsa-miR-4294
		SwitchGear 3'UTR luciferase reporter plasmid: IL12RB2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for IL12RB2 (see all 4) OriGene shRNA RFP: IL12RB2 OriGene siRNA: IL12RB2
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Gene Editing
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DNA2.0 Custom Protein Engineering Service for IL12RB2

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		GenScript: all cDNA clones in your preferred vector: IL12RB2 (NM_001559)
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		Search LifeMap BioReagents cell lines for IL12RB2

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IL12RB2

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004896	cytokine receptor activity	TAS	8943050
GO:0019901	protein kinase binding	IEA	--

IL12RB2 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Il12rb2^tm1Jm for IL12RB2
     10 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Il12rb2):

cardiovascular system	cellular	digestive/alimentary	endocrine/exocrine gland	hematopoietic system
homeostasis/metabolism	immune system	liver/biliary system	renal/urinary system	tumorigenesis

IL12RB2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Immune response IL-12-induced IFN-gamma production

	Immune response IL-12-induced IFN-gamma production	1.00			IL12-mediated signaling events	0.33
	Immune response_IL-12-induced IFN-gamma production	0.88

Akt Signaling

	Akt Signaling	1.00			Tec Kinases Signaling	0.55
	p38 Signaling	0.60

Immune response IL-12 signaling pathway

Immune response IL-12 signaling pathway

1.00

Immune response_IL-12 signaling pathway

0.96

Immune response IL-22 signaling pathway

Immune response IL-22 signaling pathway

1.00

Immune response_IL-22 signaling pathway

0.87

IL27-mediated signaling events

IL27-mediated signaling events

1.00

Th1 Differentiation

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for IL12RB2

	Immune response IL-12-induced IFN-gamma production
	Immune response IL-22 signaling pathway
	Immune response IL-12 signaling pathway

1 R&D Systems Pathway for IL12RB2

Th1 Differentiation

5/8 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for IL12RB2 (see all 8)

	THC Differentiation Pathway
	STAT3 Pathway
	Molecular Mechanisms of Cancer
	Antioxidant Action of Vitamin-C
	p38 Signaling

3 GeneGo (Thomson Reuters) Pathways for IL12RB2

	Immune response IL-12 signaling pathway
	Immune response IL-22 signaling pathway
	Immune response IL-12-induced IFN-gamma production

2 BioSystems Pathways for IL12RB2

	IL27-mediated signaling events
	IL12-mediated signaling events

2 Kegg Pathways (Kegg details for IL12RB2):

	Cytokine-cytokine receptor interaction
	Jak-STAT signaling pathway

IL12RB2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for IL12RB2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/39 Interacting proteins for IL12RB2 (Q99665^{2, 3} ENSP00000262345⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 39)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
STAT4	Q14765²^,³, ENSP00000351255⁴	MINT-8033462 MINT-8033447 I2D: score=4 STRING: ENSP00000351255
SOCS3	O14543²^,³, ENSP00000330341⁴	MINT-8033477 I2D: score=1 STRING: ENSP00000330341
IL12RB1	P42701³, ENSP00000314425⁴	I2D: score=2 STRING: ENSP00000314425
GAK	O14976³, ENSP00000314499⁴	I2D: score=1 STRING: ENSP00000314499
IL12B	P29460³, ENSP00000231228⁴	I2D: score=1 STRING: ENSP00000231228

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

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	TAS	8943050
GO:0032496	response to lipopolysaccharide	IEA	--

IL12RB2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

IL12RB2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for IL12RB2
1 Novoseek chemical compound relationship for IL12RB2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine	7.44	3	10198225 (1), 11120856 (1)

Search CenterWatch for drugs/clinical trials and news about IL12RB2 / I12R2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for IL12RB2 gene (4 alternative transcripts):

NM_001258214.1 NM_001258215.1 NM_001258216.1 NM_001559.2

Unigene Cluster for IL12RB2:

Interleukin 12 receptor, beta 2

Hs.479347 [show with all ESTs]

Unigene Representative Sequence: NR_047584

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000262345(uc001ddu.3 uc010oqk.2 uc010oql.2 uc010oqn.2)

ENST00000441640 ENST00000465396 ENST00000544434 ENST00000371000(uc010oqi.2 uc010oqj.2 uc010oqm.2)

ENST00000541374

miRNA Products:		OriGene 3'-UTR Clone: IL12RB2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IL12RB2
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate IL12RB2:
		hsa-miR-2052 hsa-miR-204 hsa-miR-4309 hsa-miR-211 hsa-miR-4294
		SwitchGear 3'UTR luciferase reporter plasmid: IL12RB2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for IL12RB2 (see all 4) OriGene shRNA RFP: IL12RB2 OriGene siRNA: IL12RB2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IL12RB2

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IL12RB2 (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IL12RB2 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: IL12RB2 (NM_001559)
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Additional cDNA sequence:

AK294494.1 AK300020.1 AK310837.1 AK316525.1 BC104772.1 BC104774.1 BC143248.1 BC143249.1

BC143250.1 BC143252.1 NR_047583.1 NR_047584.1 U64198.1

2 DOTS entries:

DT.406060 DT.121354211

13 AceView cDNA sequences:

BX100275 NM_001559 AA984228 AW168379 U64198 AI948843 BG203914 AW170646

BU953711 AA977194 AW794508 BE464121 AW794868

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for IL12RB2 (see all 6) About this scheme

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:

ECgene alternative splicing isoforms for IL12RB2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

IL12RB2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

IL12RB2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Neural Tube

Mesencephalic Ventricular Zone

Neural Tube

Metencephalon

Neural Tube

Telencephalon

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See IL12RB2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for IL12RB2

SOURCE GeneReport for Unigene cluster: Hs.479347

UniProtKB/Swiss-Prot: I12R2_HUMAN, Q99665

Tissue specificity: Isoform 2 is expressed at similar levels in both naive and activated T-cells

SABiosciences Expression via Pathway-Focused PCR Arrays including IL12RB2 (see all 6):

Th17 Response in human mouse rat

Interferons & Receptors in human mouse rat

Th1/Th2 Response in human mouse rat

T Helper Cell Differentiation in human mouse rat

T-cell & B-cell Activation in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IL12RB2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IL12RB2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for IL12RB2 gene from 2/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	IL12RB2¹	interleukin 12 receptor, beta 2	54.05(n) 38.59(a)		424705 XM_422534.3 XP_422534.3
zebrafish (Danio rerio)	Actinopterygii	il12rb2¹	interleukin 12 receptor, beta 2a	45.24(n) 33.45(a)		100134971 NM_001113505.1 NP_001106977.1

ENSEMBL Gene Tree for IL12RB2 (if available)
TreeFam Gene Tree for IL12RB2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for IL12RB2 gene

OSMR² CSF3R² IL6ST² IL31RA² IL27RA² LIFR²

IL12RB2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

UniProtKB/Swiss-Prot: I12R2_HUMAN, Q99665

Polymorphism: Heterozygotic variants Gly-313 and Arg-720 are associated with atopy, an immunological condition that can

lead to clinical symptoms such as allergic rhinitis, sinusitis, asthma and eczema

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs17129720^1,2	C,	--	65881277(+)	`TAGCCG/AGGGCA`	6	--	us2k¹		2		NS	92
rs17129722^1,2	C,	--	65881294(+)	`TGAGAC/TGCTGT`	6	--	us2k¹		2		NS	92
rs72678518^1,2	C,	--	65881313(+)	`AAAAAA/GAACAG`	6	--	us2k¹		3		WA NA	240
rs17435468^1,2	C,	--	65881409(+)	`TAGAGT/CAAAAT`	6	--	us2k¹		2		NS	88
rs78445384^1,2		--	65881826(+)	`GGGTTG/TTTTGT`	6	--	us2k¹		0	--	--	--	--
rs11805450^1,2	C,F,H,	--	65882039(+)	`tacgaT/Cttaaa`	6	--	us2k¹ tfbs³		14		NS EA NA WA	1396
rs112021781^1,2		--	65882128(+)	`TCTACT/AGTACA`	6	--	us2k¹		2		CSA WA	120
rs56187736^1,2	C,	--	65882260(+)	`CTGGGC/GTCAGT`	6	--	us2k¹		3		WA NA	240
rs111935962^1,2		--	65882690(+)	`TAATAC/TTGTCA`	6	--	us2k¹		1		CSA	2
rs11810249^1,2	C,H,	--	65882726(+)	`CAGAGC/TTGCCG`	6	--	us2k¹		2		CSA WA	120

HapMap Linkage Disequilibrium report for IL12RB2 (67773047 - 67862583 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for IL12RB2
2 CNVs: 0009 30387
Human Gene Mutation Database (HGMD): IL12RB2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

IL12RB2 for disorders           About GeneDecksing

OMIM gene information: 601642    OMIM disorders: --

20/44 diseases for IL12RB2 (see all 44):    About MalaCards

leprosy crohn's disease tropical spastic paraparesis spastic paraparesis

lepromatous leprosy pemphigus vulgaris primary biliary cirrhosis burkitt's lymphoma

allergic rhinitis pemphigus atopic dermatitis acute lymphoblastic leukemia

spasticity paracoccidioidomycosis lymphoblastic leukemia atopy

mumps sarcoidosis rhinitis bronchiolitis

10/12 Novoseek disease relationships for IL12RB2 gene (see all 12) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
asthma allergic	33.5	3	11277617 (2), 12719941 (1)
burkitt lymphoma	23.2	1	11940489 (1)
sarcoidosis	22.2	2	15004750 (1)
atopy	16.8	1	11529887 (1)
autoimmunity	14.6	2	16081683 (2)
lymphoproliferative disorders	13.1	1	15173892 (1)
colitis	8.51	3	11120856 (2), 10880525 (1)
lymphoma	3.61	1	19359411 (1)
asthma	0	2	12719941 (1)
hiv infections	0	1	10419892 (1)

Genetic Association Database (GAD): IL12RB2
Human Genome Epidemiology (HuGE) Navigator: IL12RB2 (41 documents)

Export disorders for IL12RB2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for IL12RB2 gene, integrated from 9 sources (see all 145):
(articles sorted by number of sources associating them with IL12RB2)

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world of online information

A functional interleukin 12 receptor complex is composed of two beta- type cytokine receptor subunits. (PubMed id 8943050)^{1, 2, 3} Presky D.H.... Gubler U. (1996)
SOCS-3 inhibits IL-12-induced STAT4 activation by binding through its SH2 domain to the STAT4 docking site in the IL-12 receptor beta2 subunit. (PubMed id 14559241)^{1, 2, 9} Yamamoto K.... Miura O. (2003)
Missense mutations of the interleukin-12 receptor beta 1(IL12RB1) and interferon-gamma receptor 1 (IFNGR1) genes are not associated with susceptibility to lepromatous leprosy in Korea. (PubMed id 12743658)^{1, 4, 9} Lee S.B....Chae G.T. (2003)
Physical interaction between interleukin-12 receptor beta 2 subunit and Jak2 tyrosine kinase: Jak2 associates with cytoplasmic membrane- proximal region of interleukin-12 receptor beta 2 via amino- terminus. (PubMed id 10198225)^{1, 2, 9} Yamamoto K....Miyasaka N. (1999)
A novel polymorphic GATA site in the human IL-12Rbeta2 promoter region affects transcriptional activity. (PubMed id 15140029)^{1, 4, 9} van Rietschoten J.G....Wierenga E.A. (2004)
Association study between interleukin-12 receptor beta1/beta2 genes and type 1 diabetes or asthma in the Japanese population. (PubMed id 12719941)^{1, 4, 9} Bassuny W.M....Hara T. (2003)
Assignment of IL12RB1 and IL12RB2, interleukin-12 receptor beta 1 and beta 2 chains, to human chromosome 19 band p13.1 and chromosome 1 band p31.2, respectively, by in situ hybridization. (PubMed id 9284929)^{1, 3, 9} Yamamoto K....Miyasaka N. (1997)
Association between IFNA genotype and the risk of sarcoidosis. (PubMed id 15004750)^{1, 4, 9} Akahoshi M....Shirakawa T. (2004)
Polymorphism of the 5' flanking region of the IL-12 receptor beta2 gene partially determines the clinical types of leprosy through impaired transcriptional activity. (PubMed id 15976343)^{1, 4} Ohyama H....Matsushita S. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3595	HGNC: 5972	AceView: IL12RB2	Ensembl:ENSG00000081985	euGenes: HUgn3595
ECgene: IL12RB2	Kegg: 3595	H-InvDB: IL12RB2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for IL12RB2	Pharmacogenomics, SNPs, Pathways
SeattleSNPs	http://pga.gs.washington.edu/data/il12rb2/

Intellectual Property for IL12RB2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for IL12RB2 gene:
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GeneCards and IP:
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interleukin 12 receptor, beta 2

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IL12RB2 Gene

interleukin 12 receptor, beta 2

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