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Aliases for IL12RB2 Gene

Aliases for IL12RB2 Gene

  • Interleukin 12 Receptor Subunit Beta 2 2 3 5
  • Interleukin 12 Receptor, Beta 2 2 3
  • IL-12 Receptor Subunit Beta-2 3 4
  • IL-12R Subunit Beta-2 3 4
  • Interleukin-12 Receptor Subunit Beta-2 3
  • Interleukin-12 Receptor Beta-2 Chain 3
  • IL-12R-Beta-2 4
  • IL-12RB2 4

External Ids for IL12RB2 Gene

Previous GeneCards Identifiers for IL12RB2 Gene

  • GC01P067733
  • GC01P066704
  • GC01P067130
  • GC01P067142
  • GC01P067485
  • GC01P067545
  • GC01P067773
  • GC01P065882

Summaries for IL12RB2 Gene

Entrez Gene Summary for IL12RB2 Gene

  • 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]

GeneCards Summary for IL12RB2 Gene

IL12RB2 (Interleukin 12 Receptor Subunit Beta 2) is a Protein Coding gene. Diseases associated with IL12RB2 include Sinusitis and Lepromatous Leprosy. Among its related pathways are Akt Signaling and Immune response_IL-12 signaling pathway. Gene Ontology (GO) annotations related to this gene include protein kinase binding and cytokine receptor activity. An important paralog of this gene is CSF3R.

UniProtKB/Swiss-Prot for IL12RB2 Gene

  • 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 Gene

Additional gene information for IL12RB2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IL12RB2 Gene

Genomics for IL12RB2 Gene

GeneHancer (GH) Regulatory Elements for IL12RB2 Gene

Promoters and enhancers for IL12RB2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J067306 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 655.7 +0.4 392 1.8 MXI1 SP3 L3MBTL2 SUZ12 ZNF335 ZFHX2 GLIS1 SCRT2 ZBTB33 ZBTB17 IL12RB2 SERBP1 LOC105378779
GH01J067332 Enhancer 0.8 ENCODE 23.9 +25.8 25829 1.9 PKNOX1 SMAD1 STAT5A BMI1 BATF IRF4 ATF7 ETV6 BCLAF1 IKZF2 IL12RB2 RNU4ATAC4P LOC105378779
GH01J067339 Enhancer 1 Ensembl ENCODE 18.2 +33.0 32985 1.8 PKNOX1 BMI1 BATF IRF4 RELA FOSL1 ZNF766 ZNF366 EED ATF7 IL12RB2 SERBP1 RNU6-387P LOC105378779
GH01J067347 Enhancer 0.8 Ensembl ENCODE 17.3 +40.8 40840 1.4 CTCF ZNF654 ZFP37 TRIM22 REST RAD21 CC2D1A ARID2 ZNF143 SMC3 IL12RB2 LOC105378779
GH01J067500 Enhancer 1.1 Ensembl ENCODE 10.8 +193.3 193348 0.6 FOXA2 ATF1 ARNT ARID4B SIN3A ZNF2 IRF4 ZNF48 YY1 ARID2 RNU6-387P IL12RB2 RNU4ATAC4P GC01P067513 PIR38616
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IL12RB2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IL12RB2 gene promoter:
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4
  • STAT5A
  • STAT5B
  • STAT6

Genomic Locations for IL12RB2 Gene

Genomic Locations for IL12RB2 Gene
chr1:67,307,351-67,396,900
(GRCh38/hg38)
Size:
89,550 bases
Orientation:
Plus strand
chr1:67,773,047-67,862,583
(GRCh37/hg19)
Size:
89,537 bases
Orientation:
Plus strand

Genomic View for IL12RB2 Gene

Genes around IL12RB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IL12RB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IL12RB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IL12RB2 Gene

Proteins for IL12RB2 Gene

  • Protein details for IL12RB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99665-I12R2_HUMAN
    Recommended name:
    Interleukin-12 receptor subunit beta-2
    Protein Accession:
    Q99665
    Secondary Accessions:
    • B1AN98
    • B7ZKL9
    • F5H7L6
    • Q2M3V3

    Protein attributes for IL12RB2 Gene

    Size:
    862 amino acids
    Molecular mass:
    97135 Da
    Quaternary structure:
    • 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.

    Alternative splice isoforms for IL12RB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IL12RB2 Gene

Post-translational modifications for IL12RB2 Gene

  • 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 binding.
  • Glycosylation at isoforms=2, 3480, Asn376, Asn347, Asn271, isoforms=2, 3195, Asn166, isoforms=2, 3129, and isoforms=2, 348
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for IL12RB2 Gene

Domains & Families for IL12RB2 Gene

Gene Families for IL12RB2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for IL12RB2 Gene

Graphical View of Domain Structure for InterPro Entry

Q99665

UniProtKB/Swiss-Prot:

I12R2_HUMAN :
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
  • Belongs to the type I cytokine receptor family. Type 2 subfamily.
Domain:
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
  • The box 1 motif is required for JAK interaction and/or activation.
Family:
  • Belongs to the type I cytokine receptor family. Type 2 subfamily.
genes like me logo Genes that share domains with IL12RB2: view

Function for IL12RB2 Gene

Molecular function for IL12RB2 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
In vitro, up-regulated by IFN-alpha.
GENATLAS Biochemistry:
interleukin 12 receptor,subunit B2,low affinity,132kDa,heterodimerizing with IL12RB1,expressed on Th1 cells

Phenotypes From GWAS Catalog for IL12RB2 Gene

Gene Ontology (GO) - Molecular Function for IL12RB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004896 cytokine receptor activity TAS 8943050
GO:0005515 protein binding IEA --
GO:0019901 protein kinase binding IEA --
genes like me logo Genes that share ontologies with IL12RB2: view
genes like me logo Genes that share phenotypes with IL12RB2: view

Animal Models for IL12RB2 Gene

MGI Knock Outs for IL12RB2:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for IL12RB2 Gene

Localization for IL12RB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IL12RB2 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IL12RB2 gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytosol 2
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IL12RB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8943050
GO:0009897 external side of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with IL12RB2: view

Pathways & Interactions for IL12RB2 Gene

genes like me logo Genes that share pathways with IL12RB2: view

SIGNOR curated interactions for IL12RB2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for IL12RB2 Gene

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 IEA --
GO:0032496 response to lipopolysaccharide IEA --
genes like me logo Genes that share ontologies with IL12RB2: view

Drugs & Compounds for IL12RB2 Gene

(1) Drugs for IL12RB2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with IL12RB2: view

Transcripts for IL12RB2 Gene

mRNA/cDNA for IL12RB2 Gene

(13) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(13) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for IL12RB2 Gene

Interleukin 12 receptor, beta 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IL12RB2 Gene

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:
SP6:

Relevant External Links for IL12RB2 Gene

GeneLoc Exon Structure for
IL12RB2
ECgene alternative splicing isoforms for
IL12RB2

Expression for IL12RB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IL12RB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IL12RB2 Gene

This gene is overexpressed in Muscle - Skeletal (x6.2) and Whole Blood (x4.2).

Protein differential expression in normal tissues from HIPED for IL12RB2 Gene

This gene is overexpressed in Pancreas (48.6), Placenta (6.2), and Bone marrow mesenchymal stem cell (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IL12RB2 Gene



Protein tissue co-expression partners for IL12RB2 Gene

NURSA nuclear receptor signaling pathways regulating expression of IL12RB2 Gene:

IL12RB2

SOURCE GeneReport for Unigene cluster for IL12RB2 Gene:

Hs.479347

mRNA Expression by UniProt/SwissProt for IL12RB2 Gene:

Q99665-I12R2_HUMAN
Tissue specificity: Isoform 2 is expressed at similar levels in both naive and activated T-cells.

Evidence on tissue expression from TISSUES for IL12RB2 Gene

  • Blood(4.3)
  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IL12RB2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • face
  • head
  • meninges
  • mouth
  • neck
Thorax:
  • esophagus
Abdomen:
  • intestine
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • penis
  • testicle
  • vagina
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with IL12RB2: view

Orthologs for IL12RB2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IL12RB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IL12RB2 34 33
  • 99.27 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IL12RB2 34 33
  • 85.29 (n)
OneToOne
dog
(Canis familiaris)
Mammalia IL12RB2 34 33
  • 85.08 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Il12rb2 16 34 33
  • 76.7 (n)
rat
(Rattus norvegicus)
Mammalia Il12rb2 33
  • 76.68 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia IL12RB2 34
  • 45 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IL12RB2 34
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves IL12RB2 34 33
  • 53.8 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 21 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia il12rb2 33
  • 49.09 (n)
zebrafish
(Danio rerio)
Actinopterygii il12rb2 34 33
  • 45.34 (n)
OneToMany
IL12RB2 (2 of 2) 34
  • 24 (a)
OneToMany
Species where no ortholog for IL12RB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IL12RB2 Gene

ENSEMBL:
Gene Tree for IL12RB2 (if available)
TreeFam:
Gene Tree for IL12RB2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IL12RB2: view image

Paralogs for IL12RB2 Gene

Paralogs for IL12RB2 Gene

genes like me logo Genes that share paralogs with IL12RB2: view

Variants for IL12RB2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for IL12RB2 Gene

I12R2_HUMAN-Q99665
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.

Sequence variations from dbSNP and Humsavar for IL12RB2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000094339 -- 67,376,175(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000120405 -- 67,341,263(+) AAAAAAA/AAAAAAAA intron_variant
rs1000153803 -- 67,362,868(+) G/A intron_variant
rs1000166408 -- 67,377,885(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000229472 -- 67,355,151(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for IL12RB2 Gene

Variant ID Type Subtype PubMed ID
esv2661290 CNV deletion 23128226
esv3586305 CNV loss 21293372
nsv10228 CNV gain 18304495
nsv1254 CNV insertion 18451855
nsv461773 CNV loss 19166990
nsv546447 CNV loss 21841781

Variation tolerance for IL12RB2 Gene

Residual Variation Intolerance Score: 84.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.05; 60.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IL12RB2 Gene

Human Gene Mutation Database (HGMD)
IL12RB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IL12RB2

Disorders for IL12RB2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for IL12RB2 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
sinusitis
lepromatous leprosy
  • type l leprosy
crohn's disease
  • ileitis
mumps
smallpox
  • ordinary smallpox
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for IL12RB2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with IL12RB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IL12RB2 Gene

Publications for IL12RB2 Gene

  1. Polymorphisms in genes of interleukin 12 and its receptors and their association with protection against severe malarial anaemia in children in western Kenya. (PMID: 20350312) Zhang L … Shi YP (Malaria journal 2010) 3 22 44 58
  2. Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. (PMID: 19458352) Hirschfield GM … Siminovitch KA (The New England journal of medicine 2009) 3 22 44 58
  3. Polymorphisms in the 5' flanking region of IL12RB2 are associated with susceptibility to periodontal diseases in the Japanese population. (PMID: 18353079) Takeuchi-Hatanaka K … Takashiba S (Journal of clinical periodontology 2008) 3 22 44 58
  4. A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. (PMID: 17236132) Cargill M … Begovich AB (American journal of human genetics 2007) 3 22 44 58
  5. Association between IFNA genotype and the risk of sarcoidosis. (PMID: 15004750) Akahoshi M … Shirakawa T (Human genetics 2004) 3 22 44 58

Products for IL12RB2 Gene

Sources for IL12RB2 Gene

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