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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 pl... See more...
Aliases for IL12RB2 Gene
Aliases for IL12RB2 Gene
External Ids for IL12RB2 Gene
- HGNC: 5972
- NCBI Entrez Gene: 3595
- Ensembl: ENSG00000081985
- OMIM®: 601642
- UniProtKB/Swiss-Prot: Q99665
Previous GeneCards Identifiers for IL12RB2 Gene
- GC01P067733
- GC01P066704
- GC01P067130
- GC01P067142
- GC01P067485
- GC01P067545
- GC01P067773
- GC01P065882
Summaries 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 Crohn's Disease and Lepromatous Leprosy. Among its related pathways are Interleukin-6 family signaling and JAK-STAT 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 Summary 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.
Additional gene information for IL12RB2 Gene
- HGNC (5972)
- NCBI Entrez Gene (3595)
- Ensembl (ENSG00000081985)
- OMIM® (601642)
- UniProtKB/Swiss-Prot (Q99665)
- Open Targets Platform(ENSG00000081985)
- Monarch Initiative
- Alliance of Genome Resources
- Search for IL12RB2 at DataMed
- Search for IL12RB2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IL12RB2 Gene
Genomics for IL12RB2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for IL12RB2 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IL12RB2
- 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
Latest Assembly
- chr1:67,307,351-67,398,724
- (GRCh38/hg38)
- Size:
- 91,374 bases
- Orientation:
- Plus strand
Previous Assembly
- chr1:67,773,047-67,864,407
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 91,361 bases
- Orientation:
- Plus strand
Genomic View for IL12RB2 Gene
Genes around IL12RB2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p31.3 by HGNC
- 1p31.3 by Entrez Gene
- 1p31.3 by Ensembl
IL12RB2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression 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 Asn48, Asn129, Asn166, Asn195, Asn271, Asn347, Asn376, and Asn480
- NX_Q99665 (NX_Q99665-1)
- Modification sites at PhosphoSitePlus
Other Protein References for IL12RB2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences IL12RB2 Antibody
- G Biosciences Immunotag™ IL12RB2 Antibody
- BioLegend IL12RB2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for IL12RB2
- Novus Biologicals Antibodies for IL12RB2
-
Abcam antibodies for IL12RB2
- Invitrogen Antibodies for IL12RB2 (AFLGC-IL12RB2)
- antibodies-online: Show 30 available IL12RB2 Antibodies ranked by validation data
- Compare Top IL12RB2 Antibodies
-
Recommended
- 19 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 6 FACS Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-rat)
- 7 WB Antibodies (anti-rat)
- 59 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 8 FACS Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
- 1 IF/ICC Antibody (anti-human)
- 1 IHC (p) Antibody (anti-human)
-
Boster Bio Antibodies for IL12RB2
-
Custom Antibody ServicesProSci Antibodies for IL12RB2
-
Santa Cruz Biotechnology (SCBT) Antibodies for IL12RB2
- Sino Biological Antibodies for IL12RB2
Protein products for research
-
OriGene Purified Proteins for IL12RB2
- Search Origene for MassSpec and Protein Over-expression Lysates for IL12RB2
- Origene Custom Protein Services for IL12RB2
- Sino Biological Recombinant Proteins for IL12RB2
- Sino Biological Cell Lysates for IL12RB2
-
ProSci Proteins for IL12RB2
-
Abcam proteins for IL12RB2
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
Protein Domains for IL12RB2 Gene
- InterPro:
- Blocks:
-
- Long hematopoietin receptor, gp130 family 2
- Ig-like C2-type
Suggested Antigen Peptide Sequences for IL12RB2 Gene
- GenScript: Design optimal peptide antigens:
-
- Interleukin 12 receptor, beta 2 (B1ANV3_HUMAN)
- IL12RB2 protein (B7ZKL9_HUMAN)
- Interleukin-12 receptor subunit beta-2 (I12R2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q99665UniProtKB/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.
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
| 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 | IPI | -- |
| GO:0019955 | cytokine binding | IBA | 21873635 |
Phenotypes for IL12RB2 Gene
- MGI mutant phenotypes for IL12RB2:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for IL12RB2:
Animal Models for IL12RB2 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for IL12RB2 - Starting at $85 >
- * IL12RB2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for IL12RB2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IL12RB2
-
Santa Cruz Biotechnology (SCBT) CRISPR for IL12RB2
miRNA for IL12RB2 Gene
- miRTarBase miRNAs that target IL12RB2
-
- hsa-miR-7-5p (MIRT025732)
- hsa-miR-625-5p (MIRT039597)
- hsa-miR-3180-5p (MIRT531927)
- hsa-miR-493-5p (MIRT531928)
- hsa-miR-525-5p (MIRT531929)
- hsa-miR-520a-5p (MIRT531930)
- hsa-miR-200b-5p (MIRT531931)
- hsa-miR-200a-5p (MIRT531932)
- hsa-miR-129-5p (MIRT621064)
- hsa-miR-6513-5p (MIRT621065)
- hsa-miR-887-5p (MIRT621066)
- hsa-miR-3913-5p (MIRT621067)
- hsa-miR-3122 (MIRT621068)
- hsa-miR-450a-1-3p (MIRT621069)
- hsa-miR-151a-3p (MIRT735530)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IL12RB2
- Browse OriGene Inhibitory RNA Products For IL12RB2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IL12RB2
Clone products for research
- Applied Biological Materials (abm): Clones for IL12RB2 - Starting at $45 >
- * IL12RB2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for IL12RB2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IL12RB2
Cell Lines for research
-
Horizon Cell Lines for IL12RB2
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 3 |
| cytosol | 3 |
| nucleus | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
- Plasma membrane (2)
| 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 | IBA | 21873635 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for IL12RB2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Th17 cell differentiation |
Immune response IL-22 signaling pathway
.36
|
|
| 2 | Akt Signaling |
Akt Signaling
.60
p38 Signaling
.60
|
Tec Kinases Signaling
.55
|
| 3 | PEDF Induced Signaling |
STAT3 Pathway
.47
|
|
| 4 | JAK-STAT signaling pathway | ||
| 5 | Th1 Differentiation Pathway | ||
Pathways by source for IL12RB2 Gene
2 Sino Biological pathways for IL12RB2 Gene
2 BioSystems pathways for IL12RB2 Gene
6 Reactome pathways for IL12RB2 Gene
5 KEGG pathways for IL12RB2 Gene
3 GeneGo (Thomson Reuters) pathways for IL12RB2 Gene
- Immune response IL-12-induced IFN-gamma production
- Immune response IL-22 signaling pathway
- Immune response_IL-12 signaling pathway
4 R&D Systems pathways for IL12RB2 Gene
8 Qiagen pathways for IL12RB2 Gene
- Akt Signaling
- Antioxidant Action of Vitamin-C
- MAPK Family Pathway
- Molecular Mechanisms of Cancer
- p38 Signaling
Interacting Proteins for IL12RB2 Gene
Selected Interacting proteins:
Q99665-I12R2_HUMAN
ENSP00000262345
for IL12RB2 Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for IL12RB2
| 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 | IMP | -- |
| GO:0019221 | cytokine-mediated signaling pathway | IBA | 21873635 |
| GO:0032496 | response to lipopolysaccharide | IGI | -- |
Transcripts for IL12RB2 Gene
mRNA/cDNA for IL12RB2 Gene
- 6 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000262345 4040 nts (view in UCSC)
- ENST00000371000 2454 nts (view in UCSC)
- ENST00000441640 697 nts (view in UCSC)
- ENST00000465396 604 nts (view in UCSC)
- ENST00000541374 3348 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for IL12RB2 - Starting at $85 >
- * IL12RB2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for IL12RB2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IL12RB2
-
Santa Cruz Biotechnology (SCBT) CRISPR for IL12RB2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IL12RB2
- Browse OriGene Inhibitory RNA Products For IL12RB2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IL12RB2
Clone products for research
- Applied Biological Materials (abm): Clones for IL12RB2 - Starting at $45 >
- * IL12RB2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for IL12RB2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IL12RB2
| 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
Expression for IL12RB2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Tube (Nervous System)
-
Blood (Hematopoietic System)
- Natural Killer Cells Peripheral Blood
- Lung (Respiratory System)
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).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IL12RB2
SOURCE GeneReport for Unigene cluster for IL12RB2 Gene:
Hs.479347mRNA 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(4.4)
- Nervous system(4.4)
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
Primer products for research
-
OriGene qPCR primer pairs for IL12RB2
-
OriGene qPCR primer pairs and template standards for IL12RB2
Gene Expression Assays for research
Orthologs for IL12RB2 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | IL12RB2 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | IL12RB2 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | IL12RB2 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Il12rb2 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Il12rb2 29 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | IL12RB2 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | IL12RB2 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | IL12RB2 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 30 |
|
ManyToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | il12rb2 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | il12rb2 29 30 |
|
OneToMany | |
| IL12RB2 (2 of 2) 30 |
|
OneToMany |
- Species where no ortholog for IL12RB2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
- Alliance of Genome Resources:
- Additional Orthologs for IL12RB2
Paralogs for IL12RB2 Gene
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IL12RB2 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1003687 | Uncertain Significance: not provided | 67,395,587(+) |
G/T NM_001374259.2(IL12RB2):c.2087G>T (p.Trp696Leu) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR | |
| 1010681 | Uncertain Significance: not provided | 67,351,060(+) |
G/A NM_001374259.2(IL12RB2):c.1229G>A (p.Arg410His) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| 1018049 | Uncertain Significance: not provided | 67,395,631(+) |
C/T NM_001374259.2(IL12RB2):c.2131C>T (p.Leu711Phe) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR | |
| 1024479 | Uncertain Significance: not provided | 67,367,849(+) |
C/T NM_001374259.2(IL12RB2):c.1283C>T (p.Ser428Phe) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| 1025077 | Uncertain Significance: not provided | 67,351,006(+) |
A/T NM_001374259.2(IL12RB2):c.1175A>T (p.Asn392Ile) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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
SNP Genotyping and Copy Number Assays for research
Disorders for IL12RB2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| crohn's disease |
|
|
| lepromatous leprosy |
|
|
| immunodeficiency 30 |
|
|
| smallpox |
|
|
| mumps |
|
|
Search IL12RB2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for IL12RB2
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for IL12RB2 Gene
Publications for IL12RB2 Gene
- 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 40
- 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 40
- 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 40
- 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 40
- Association between IFNA genotype and the risk of sarcoidosis. (PMID: 15004750) Akahoshi M … Shirakawa T (Human genetics 2004) 3 22 40
ExternalLinks
Products for IL12RB2 Gene
- View all 10 R&D Systems IL12RB2 (IL-12 R beta 2) Products
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Sources for IL12RB2 Gene
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