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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 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 Familial Atypical Mycobacteriosis, Il12rb1-Related. Among its related pathways are Th17 Differentiation Pathway and ERK Signaling. 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

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

Genomics for IL12RB1 Gene

Regulatory Elements for IL12RB1 Gene

Enhancers for IL12RB1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around IL12RB1 on UCSC Golden Path with GeneCards custom track

Promoters for IL12RB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around IL12RB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for IL12RB1 Gene

Chromosome:
19
Start:
18,058,995 bp from pter
End:
18,098,986 bp from pter
Size:
39,992 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

Proteomics data for IL12RB1 Gene at MOPED

Post-translational modifications for IL12RB1 Gene

  • Glycosylation at Asn 121, Asn 329, Asn 346, Asn 352, Asn 442, and Asn 456
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for IL12RB1 (IL-12 R beta 1)

No data available for DME Specific Peptides for IL12RB1 Gene

Domains & Families for IL12RB1 Gene

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.
  • Contains 5 fibronectin type-III domains.
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

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:0019955 cytokine binding IEA --
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

Inhibitory RNA Products

Flow Cytometry 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
Jensen Localization Image for IL12RB1 Gene COMPARTMENTS Subcellular localization image for IL12RB1 gene
Compartment Confidence
plasma membrane 5
extracellular 4

Gene Ontology (GO) - Cellular Components for IL12RB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042022 interleukin-12 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:0002827 positive regulation of T-helper 1 type immune response ISS --
GO:0032729 positive regulation of interferon-gamma production IMP 14635048
GO:0038155 interleukin-23-mediated signaling pathway IDA 12023369
GO:0042104 positive regulation of activated T cell proliferation IDA 11114383
genes like me logo Genes that share ontologies with IL12RB1: view

Drugs & Compounds for IL12RB1 Gene

(2) Drugs for IL12RB1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) 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:

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 (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, PaxDb, and MOPED for IL12RB1 Gene



SOURCE GeneReport for Unigene cluster for IL12RB1 Gene Hs.567294

genes like me logo Genes that share expression patterns with IL12RB1: view

Protein tissue co-expression partners for IL12RB1 Gene

- Elite partner

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia IL12RB1 35
  • 96.72 (n)
  • 96.01 (a)
IL12RB1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Il12rb1 35
  • 67.36 (n)
  • 55.39 (a)
oppossum
(Monodelphis domestica)
Mammalia IL12RB1 36
  • 39 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IL12RB1 36
  • 43 (a)
OneToOne
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
rs375947 - 18,069,641(+) ACGTC(A/G)TGCTC reference, missense
rs401502 - 18,069,603(+) GCCCC(C/G/T)GTCCT reference, missense
VAR_015577 Immunodeficiency 30 (IMD30)
rs17884651 - 18,086,816(-) GGAGC(A/C/T)GCTGG reference, missense
rs17887176 - 18,082,250(-) CGGGC(C/T)CTAGG reference, missense

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

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)

Relevant External Links for IL12RB1 Gene

Human Gene Mutation Database (HGMD)
IL12RB1

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

Disorders for IL12RB1 Gene

MalaCards: The human disease database

(21) MalaCards diseases for IL12RB1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 30
  • il12rb1 deficiency
familial atypical mycobacteriosis, il12rb1-related
nocardiosis
  • nocardia infectious disease
abdominal tuberculosis
axillary adenitis
  • axillary lymphadenitis
- 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

Relevant External Links for IL12RB1

Genetic Association Database (GAD)
IL12RB1
Human Genome Epidemiology (HuGE) Navigator
IL12RB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IL12RB1
genes like me logo Genes that share disorders with IL12RB1: view

Publications for IL12RB1 Gene

  1. Association of the IL12RB1 promoter polymorphisms with increased risk of atopic dermatitis and other allergic phenotypes. (PMID: 16159888) Takahashi N. … Shirakawa T. (Hum. Mol. Genet. 2005) 3 23 48 67
  2. 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
  3. 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 J.H. … Yang J.M. (J. Dermatol. Sci. 2010) 3 23
  4. 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 Y.P. (Malar. J. 2010) 3 23
  5. A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants. (PMID: 19460324) Yancoski J. … Rosenzweig S.D. (Infect. Genet. Evol. 2009) 3 23

Products for IL12RB1 Gene

Sources for IL12RB1 Gene

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