Free for academic non-profit institutions. Other users need a Commercial license

Aliases for IL12RB1 Gene

Aliases for IL12RB1 Gene

  • 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 Symbols for IL12RB1 Gene

  • IL12RB

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, Beta 1) is a Protein Coding gene. Diseases associated with IL12RB1 include immunodeficiency 30 and familial atypical mycobacteriosis, il12rb1-related. Among its related pathways are Akt Signaling and Akt Signaling. GO annotations related to this gene include cytokine receptor activity and interleukin-23 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

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

Genomics for IL12RB1 Gene

Genomic Location for IL12RB1 Gene

Start:
18,058,995 bp from pter
End:
18,098,944 bp from pter
Size:
39,950 bases
Orientation:
Minus strand

Genomic View for IL12RB1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IL12RB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IL12RB1 Gene

Regulatory Elements 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

Proteomics data for IL12RB1 Gene at MOPED

Post-translational modifications for IL12RB1 Gene

  • Glycosylation at Asn121, Asn329, Asn346, Asn352, Asn442, and Asn456

No data available for DME Specific Peptides for IL12RB1 Gene

Domains for IL12RB1 Gene

Gene Families for IL12RB1 Gene

HGNC:
  • CD :CD molecules
  • FN3 :Fibronectin type III domain containing
  • IL :Interleukins and interleukin receptors
IUPHAR :

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
Domain:
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding:
    • P42701
  • The box 1 motif is required for JAK interaction and/or activation:
    • P42701
  • Contains 5 fibronectin type-III domains.:
    • P42701
Family:
  • Belongs to the type I cytokine receptor family. Type 2 subfamily.:
    • P42701
genes like me logo Genes that share domains with IL12RB1: view

Function for IL12RB1 Gene

Molecular function for IL12RB1 Gene

GENATLAS Biochemistry: interleukin 12 receptor subunit B1,heterodimerizing with IL12RB2
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.

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 --
GO:0016517 contributes_to interleukin-12 receptor activity IDA 8943050
GO:0019955 cytokine binding --
genes like me logo Genes that share ontologies with IL12RB1: view

Phenotypes for IL12RB1 Gene

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

Animal Models for IL12RB1 Gene

MGI Knock Outs for IL12RB1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for IL12RB1 Gene COMPARTMENTS Subcellular localization image for IL12RB1 gene
Compartment Confidence
plasma membrane 4
extracellular 3

Gene Ontology (GO) - Cellular Components for IL12RB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009897 external side of plasma 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 for IL12RB1 Gene

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

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:0018108 peptidyl-tyrosine phosphorylation IEA --
genes like me logo Genes that share ontologies with IL12RB1: view

Compounds for IL12RB1 Gene

(5) Novoseek inferred chemical compound relationships for IL12RB1 Gene

Compound -log(P) Hits PubMed IDs
il-12 59.7 3
gp 130 44 2
tyrosine 17.7 5
ionomycin 8.67 1
dexamethasone 0 3
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:

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 for IL12RB1 Gene

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

This gene is overexpressed in Whole Blood (16.0) and Spleen (8.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for IL12RB1 Gene

SOURCE GeneReport for Unigene cluster for IL12RB1 Gene Hs.567294

genes like me logo Genes that share expressions 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 35
  • 96.72 (n)
  • 96.01 (a)
IL12RB1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IL12RB1 35
  • 78.64 (n)
  • 72.81 (a)
IL12RB1 36
  • 63 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IL12RB1 35
  • 79.11 (n)
  • 72.44 (a)
IL12RB1 36
  • 63 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Il12rb1 35
  • 68.49 (n)
  • 56.66 (a)
Il12rb1 16
Il12rb1 36
  • 49 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IL12RB1 36
  • 39 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IL12RB1 36
  • 43 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Il12rb1 35
  • 67.36 (n)
  • 55.39 (a)
chicken
(Gallus gallus)
Aves IL12RB1 35
  • 47.82 (n)
  • 31.15 (a)
IL12RB1 36
  • 25 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IL12RB1 36
  • 32 (a)
OneToOne
Species with no ortholog for IL12RB1:
  • 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)

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 Sequence Context AA Info Type MAF
rs365179 -- 18,070,468(+) ACGAG(C/T)ACACA intron-variant, downstream-variant-500B
rs366653 -- 18,070,054(+) GGGAC(C/T)ACAGG intron-variant
rs368300 -- 18,071,961(+) tgcct(A/G)gctGA intron-variant
rs369378 -- 18,078,949(+) tactc(A/G)aagca intron-variant
rs370823 -- 18,077,871(+) atttt(A/G)ggagg intron-variant

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

Variant ID Type Subtype PubMed ID
nsv470130 CNV Loss 18288195
nsv911235 CNV Loss 21882294
nsv833773 CNV Loss 17160897
nsv911236 CNV Loss 21882294
dgv3770n71 CNV Gain 21882294
nsv911238 CNV Gain 21882294
nsv911240 CNV Loss 21882294
dgv3771n71 CNV Loss 21882294

Relevant External Links for IL12RB1 Gene

HapMap Linkage Disequilibrium report
IL12RB1
Human Gene Mutation Database (HGMD)
IL12RB1
Locus Specific Mutation Databases (LSDB)
IL12RB1

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

Disorders for IL12RB1 Gene

(1) OMIM Diseases for IL12RB1 Gene (601604)

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.

(1) University of Copenhagen DISEASES for IL12RB1 Gene

(23) Novoseek inferred disease relationships for IL12RB1 Gene

Disease -log(P) Hits PubMed IDs
mycobacterial infection 67.8 1
salmonella infections 45.8 2
tuberculosis disseminated 42.8 2
immune disorder 41 1
tuberculosis 38.4 8

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

Relevant External Links for IL12RB1

Genetic Association Database (GAD)
IL12RB1
Human Genome Epidemiology (HuGE) Navigator
IL12RB1
genes like me logo Genes that share disorders with IL12RB1: view

Publications for IL12RB1 Gene

  1. Expression cloning of a human IL-12 receptor component. A new member of the cytokine receptor superfamily with strong homology to gp130. (PMID: 7911493) Chua A.O. … Gubler U. (J. Immunol. 1994) 3 4 23
  2. A functional interleukin 12 receptor complex is composed of two beta- type cytokine receptor subunits. (PMID: 8943050) Presky D.H. … Gubler U. (Proc. Natl. Acad. Sci. U.S.A. 1996) 3 4 23
  3. Interleukin-12 receptor beta-1 deficiency in a patient with abdominal tuberculosis. (PMID: 11424023) Altare F. … Casanova J.-L. (J. Infect. Dis. 2001) 3 4 23
  4. 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. (PMID: 9284929) Yamamoto K. … Miyasaka N. (Cytogenet. Cell Genet. 1997) 2 3 23
  5. Contribution of the interleukin 4 gene to susceptibility to subacute sclerosing panencephalitis. (PMID: 12020266) Inoue T. … Hara T. (Arch. Neurol. 2002) 3 23 48

Products for IL12RB1 Gene

  • antibodies-online proteins for IL12RB1
  • antibodies-online antibodies for IL12RB1
  • antibodies-online kits for IL12RB1

Sources for IL12RB1 Gene

Back to Top

Content