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Aliases for IL12RB1 Gene

Aliases for IL12RB1 Gene

  • Interleukin 12 Receptor Subunit Beta 1 2 3 5
  • Interleukin 12 Receptor, Beta 1 2 3
  • IL-12 Receptor Beta Component 3 4
  • IL-12 Receptor Subunit Beta-1 3 4
  • IL-12R Subunit Beta-1 3 4
  • IL12RB 3 4
  • Interleukin-12 Receptor Subunit Beta-1 3
  • Interleukin-12 Receptor Beta-1 Chain 3
  • Cluster Of Differentiation 212 3
  • CD212 Antigen 4
  • IL-12R-Beta-1 4
  • IL-12R-BETA1 3
  • IL-12RB1 4
  • CD212 3
  • IMD30 3
  • IL12R 4

External Ids for IL12RB1 Gene

Previous HGNC Symbols for IL12RB1 Gene

  • IL12RB

Previous GeneCards Identifiers for IL12RB1 Gene

  • GC19M018664
  • GC19M018562
  • GC19M018015
  • GC19M018031
  • GC19M018170
  • GC19M017735

Summaries for IL12RB1 Gene

Entrez Gene Summary for IL12RB1 Gene

  • 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 forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

GeneCards Summary for IL12RB1 Gene

IL12RB1 (Interleukin 12 Receptor Subunit Beta 1) is a Protein Coding gene. Diseases associated with IL12RB1 include Immunodeficiency 30 and Salmonellosis. Among its related pathways are Akt Signaling and Immune response_IL-12 signaling pathway. Gene Ontology (GO) annotations related to this gene include cytokine receptor activity and interleukin-12 receptor binding.

UniProtKB/Swiss-Prot for IL12RB1 Gene

  • 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. Associates also with IL23R to form the interleukin-23 receptor which functions in IL23 signal transduction probably through activation of the Jak-Stat signaling cascade.

Gene Wiki entry for IL12RB1 Gene

Additional gene information for IL12RB1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IL12RB1 Gene

Genomics for IL12RB1 Gene

GeneHancer (GH) Regulatory Elements for IL12RB1 Gene

Promoters and enhancers for IL12RB1 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
GH19J018086 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 671.7 +9.7 9671 5.9 HDGF PKNOX1 ZNF493 ZFP64 IRF4 ZNF48 TCF12 ZNF121 ZNF766 ZNF213 IL12RB1 UPF1 ENSG00000268030 IQCN ENSG00000268938 GTPBP3 ENSG00000269191 SUGP2 ELL COLGALT1
GH19J018097 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 657.8 +0.2 219 2.9 HDGF PKNOX1 ARNT ZNF2 IRF4 ZNF213 ZNF207 ZNF143 ATF7 FOS IL12RB1 MAST3 ENSG00000268030 PLVAP UPF1 PDE4C
GH19J018100 Enhancer 0.9 ENCODE dbSUPER 650.7 -1.9 -1935 0.7 DRAP1 MXI1 SAP130 ARID4B MAX ZNF644 TEAD3 GATAD1 RFXANK POLR2A IL12RB1 MAST3 PIR61285
GH19J018300 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.3 -205.5 -205519 8.2 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC PPARGC1A GLIS1 RCOR2 ENSG00000268030 UPF1 ENSG00000268938 IQCN NR2C2AP ENSG00000269191 COLGALT1 MEF2B MVB12A ELL
GH19J018414 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.2 -319.7 -319709 9.2 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 MEF2D SSRP1 ZNF610 GLIS1 RCOR2 SSBP4 NR2C2AP ENSG00000268030 MAU2 UPF1 IQCN ENSG00000268938 ENSG00000269191 COLGALT1 MEF2B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IL12RB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IL12RB1 gene promoter:
  • STAT3
  • STAT1
  • HSF2
  • HEN1
  • XBP-1
  • Bach1
  • Meis-1b
  • Meis-1

Genomic Locations for IL12RB1 Gene

Genomic Locations for IL12RB1 Gene
chr19:18,058,995-18,098,986
(GRCh38/hg38)
Size:
39,992 bases
Orientation:
Minus strand
chr19:18,169,805-18,209,754
(GRCh37/hg19)
Size:
39,950 bases
Orientation:
Minus strand

Genomic View for IL12RB1 Gene

Genes around IL12RB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IL12RB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IL12RB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IL12RB1 Gene

Proteins for IL12RB1 Gene

  • Protein details for IL12RB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P42701-I12R1_HUMAN
    Recommended name:
    Interleukin-12 receptor subunit beta-1
    Protein Accession:
    P42701
    Secondary Accessions:
    • A8K308
    • B2RPF1
    • B7ZKK3
    • Q8N6Q7

    Protein attributes for IL12RB1 Gene

    Size:
    662 amino acids
    Molecular mass:
    73109 Da
    Quaternary structure:
    • Dimer or oligomer; disulfide-linked. Interacts with IL12RB2 to form the high affinity IL12 receptor. Heterodimer with IL23R; in presence of IL23. The heterodimer forms the IL23 receptor.

    Alternative splice isoforms for IL12RB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IL12RB1 Gene

Post-translational modifications for IL12RB1 Gene

  • Glycosylation at isoforms=2456, Asn442, isoforms=2352, isoforms=2346, Asn329, and isoforms=2, 3121
  • Modification sites at PhosphoSitePlus

Protein Products

  • Abcam proteins for IL12RB1

No data available for DME Specific Peptides for IL12RB1 Gene

Domains & Families for IL12RB1 Gene

Gene Families for IL12RB1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • CD markers
  • Disease related genes
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for IL12RB1 Gene

Suggested Antigen Peptide Sequences for IL12RB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P42701

UniProtKB/Swiss-Prot:

I12R1_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 IL12RB1: view

Function for IL12RB1 Gene

Molecular function for IL12RB1 Gene

UniProtKB/Swiss-Prot 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. Associates also with IL23R to form the interleukin-23 receptor which functions in IL23 signal transduction probably through activation of the Jak-Stat signaling cascade.
GENATLAS Biochemistry:
interleukin 12 receptor subunit B1,heterodimerizing with IL12RB2

Phenotypes From GWAS Catalog for IL12RB1 Gene

Gene Ontology (GO) - Molecular Function for IL12RB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004896 cytokine receptor activity TAS 8943050
GO:0005143 contributes_to interleukin-12 receptor binding IPI 12023369
GO:0005515 protein binding IEA --
GO:0016517 contributes_to interleukin-12 receptor activity IDA 8943050
GO:0042019 contributes_to interleukin-23 binding IPI 12023369
genes like me logo Genes that share ontologies with IL12RB1: view
genes like me logo Genes that share phenotypes with IL12RB1: view

Human Phenotype Ontology for IL12RB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IL12RB1 Gene

MGI Knock Outs for IL12RB1:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for IL12RB1 Gene

Localization for IL12RB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IL12RB1 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 IL12RB1 gene
Compartment Confidence
plasma membrane 5
extracellular 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IL12RB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0042022 interleukin-12 receptor complex IDA 12023369
GO:0072536 interleukin-23 receptor complex IDA 12023369
genes like me logo Genes that share ontologies with IL12RB1: view

Pathways & Interactions for IL12RB1 Gene

genes like me logo Genes that share pathways with IL12RB1: view

SIGNOR curated interactions for IL12RB1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for IL12RB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001916 positive regulation of T cell mediated cytotoxicity ISS --
GO:0002230 positive regulation of defense response to virus by host ISS --
GO:0002827 positive regulation of T-helper 1 type immune response ISS --
GO:0007165 signal transduction IC 8943050
GO:0019221 cytokine-mediated signaling pathway TAS 7911493
genes like me logo Genes that share ontologies with IL12RB1: view

Drugs & Compounds for IL12RB1 Gene

(3) Drugs for IL12RB1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for IL12RB1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with IL12RB1: view

Transcripts for IL12RB1 Gene

Unigene Clusters for IL12RB1 Gene

Interleukin 12 receptor, beta 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IL12RB1 Gene

No ASD Table

Relevant External Links for IL12RB1 Gene

GeneLoc Exon Structure for
IL12RB1
ECgene alternative splicing isoforms for
IL12RB1

Expression for IL12RB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IL12RB1 Gene

mRNA differential expression in normal tissues according to GTEx for IL12RB1 Gene

This gene is overexpressed in Whole Blood (x16.0) and Spleen (x8.3).

Protein differential expression in normal tissues from HIPED for IL12RB1 Gene

This gene is overexpressed in CD8 Tcells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IL12RB1 Gene



Protein tissue co-expression partners for IL12RB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IL12RB1 Gene:

IL12RB1

SOURCE GeneReport for Unigene cluster for IL12RB1 Gene:

Hs.567294

Evidence on tissue expression from TISSUES for IL12RB1 Gene

  • Blood(4.4)
  • Intestine(4.2)
  • Lymph node(2.3)
  • Spleen(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IL12RB1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • lymphatic
  • respiratory
Regions:
Thorax:
  • lung
Abdomen:
  • biliary tract
  • liver
  • spleen
General:
  • blood
  • bone marrow
  • coagulation system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with IL12RB1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for IL12RB1 Gene

Orthologs for IL12RB1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IL12RB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IL12RB1 34 33
  • 96.72 (n)
OneToOne
dog
(Canis familiaris)
Mammalia IL12RB1 34 33
  • 79.11 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IL12RB1 34 33
  • 78.64 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Il12rb1 16 34 33
  • 68.49 (n)
rat
(Rattus norvegicus)
Mammalia Il12rb1 33
  • 67.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia IL12RB1 34
  • 43 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IL12RB1 34
  • 39 (a)
OneToOne
chicken
(Gallus gallus)
Aves IL12RB1 34 33
  • 47.82 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IL12RB1 34
  • 32 (a)
OneToOne
Species where no ortholog for IL12RB1 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for IL12RB1 Gene

ENSEMBL:
Gene Tree for IL12RB1 (if available)
TreeFam:
Gene Tree for IL12RB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IL12RB1: view image

Paralogs for IL12RB1 Gene

No data available for Paralogs for IL12RB1 Gene

Variants for IL12RB1 Gene

Sequence variations from dbSNP and Humsavar for IL12RB1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs11086087 benign, Familial Atypical Mycobacteriosis, Autosomal Recessive, not specified 18,080,854(-) C/G/T 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs11575926 likely-benign, benign, Familial Atypical Mycobacteriosis, Autosomal Recessive, not specified 18,077,598(-) C/T coding_sequence_variant, intron_variant, missense_variant
rs11575934 benign, Familial Atypical Mycobacteriosis, Autosomal Recessive, not specified 18,075,808(-) T/C coding_sequence_variant, missense_variant
rs11575935 benign, likely-benign, not provided, Familial Atypical Mycobacteriosis, Autosomal Recessive, Immunodeficiency 30 18,063,921(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs117511121 benign, Immunodeficiency 30 18,072,285(-) C/G/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for IL12RB1 Gene

Variant ID Type Subtype PubMed ID
esv2663623 CNV deletion 23128226
esv3643830 CNV loss 21293372
nsv1127660 CNV deletion 24896259
nsv470130 CNV loss 18288195
nsv578742 CNV loss 21841781
nsv578743 CNV loss 21841781
nsv833773 CNV loss 17160897

Variation tolerance for IL12RB1 Gene

Residual Variation Intolerance Score: 88.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.79; 58.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IL12RB1 Gene

Human Gene Mutation Database (HGMD)
IL12RB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IL12RB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IL12RB1 Gene

Disorders for IL12RB1 Gene

MalaCards: The human disease database

(22) MalaCards diseases for IL12RB1 Gene - From: HGMD, LncRNADisease, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 30
  • imd30
salmonellosis
  • salmonella infection
nocardiosis
  • nocardia infectious disease
abdominal tuberculosis
primary biliary cholangitis
  • pbc
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

I12R1_HUMAN
  • Immunodeficiency 30 (IMD30) [MIM:614891]: A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD30 has low penetrance, and affected individuals have relatively mild disease and good prognosis. BCG disease and salmonellosis are the most frequent infections in IMD30 patients. {ECO:0000269 PubMed:11424023}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for IL12RB1 Gene

susceptibility to BCG,non tuberculous mycobacterial and salmonella infections,with the presence of mature granulomas and a secundary impairment of IFNG production

Additional Disease Information for IL12RB1

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 IL12RB1: view

Publications for IL12RB1 Gene

  1. Association of single nucleotide polymorphisms in the IL-12 (IL-12A and B) and IL-12 receptor (IL-12Rbeta1 and beta2) genes and gene-gene interactions with atopic dermatitis in Koreans. (PMID: 20060272) Namkung JH … Yang JM (Journal of dermatological science 2010) 3 22 44 58
  2. 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
  3. Interleukin-12 receptor beta1 polymorphisms and nontuberculous mycobacterial lung diseases. (PMID: 18493823) Park HY … Koh WJ (Lung 2008) 3 22 44 58
  4. Associations between measles vaccine immunity and single-nucleotide polymorphisms in cytokine and cytokine receptor genes. (PMID: 17152005) Dhiman N … Jacobson RM (The Journal of infectious diseases 2007) 3 22 44 58
  5. Interleukin (IL)-12 receptor beta1 codon 378 G homozygote and allele, but not IL-1 (beta-511 promoter, 3953 exon 5, receptor antagonist), IL-2 114, IL-4-590 intron 3, IL-8 3'-UTR 2767, and IL-18 105, are associated with higher susceptibility to leiomyoma. (PMID: 17222831) Hsieh YY … Tsai FJ (Fertility and sterility 2007) 3 22 44 58

Products for IL12RB1 Gene

Sources for IL12RB1 Gene

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