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IL12RB1 interleukin 12 receptor subunit beta 1 [ Homo sapiens (human) ]

Gene ID: 3594, updated on 11-Sep-2019

Summary

Official Symbol
IL12RB1provided by HGNC
Official Full Name
interleukin 12 receptor subunit beta 1provided by HGNC
Primary source
HGNC:HGNC:5971
See related
Ensembl:ENSG00000096996 MIM:601604
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CD212; IMD30; IL12RB; IL-12R-BETA1
Summary
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]
Expression
Biased expression in lymph node (RPKM 5.0), spleen (RPKM 4.1) and 13 other tissues See more
Orthologs

Genomic context

See IL12RB1 in Genome Data Viewer
Location:
19p13.11
Exon count:
20
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (18058994..18099027, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (18170371..18197806, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NAD(P)HX epimerase pseudogene Neighboring gene ribosomal protein S18 pseudogene 13 Neighboring gene Sharpr-MPRA regulatory region 12288 Neighboring gene microtubule associated serine/threonine kinase 3 Neighboring gene phosphoinositide-3-kinase regulatory subunit 2 Neighboring gene IFI30 lysosomal thiol reductase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Immunodeficiency 30
MedGen: C4013949 OMIM: 614891 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies TH1 pathway genes associated with lung function in asthmatic patients.
NHGRI GWA Catalog

Pathways from BioSystems

  • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • IL12-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
    IL12-mediated signaling events, organism-specific biosystem
    IL12-mediated signaling events
  • IL23-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
    IL23-mediated signaling events, organism-specific biosystem
    IL23-mediated signaling events
  • IL27-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
    IL27-mediated signaling events, organism-specific biosystem
    IL27-mediated signaling events
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Inflammatory bowel disease (IBD), organism-specific biosystem (from KEGG)
    Inflammatory bowel disease (IBD), organism-specific biosystemInflammatory bowel disease (IBD), which includes Crohn disease (CD) and ulcerative colitis (UC), is characterized by chronic inflammation of the gastrointestinal tract due to environmental and geneti...
  • Inflammatory bowel disease (IBD), conserved biosystem (from KEGG)
    Inflammatory bowel disease (IBD), conserved biosystemInflammatory bowel disease (IBD), which includes Crohn disease (CD) and ulcerative colitis (UC), is characterized by chronic inflammation of the gastrointestinal tract due to environmental and geneti...
  • Interleukin-12 signaling, organism-specific biosystem (from REACTOME)
    Interleukin-12 signaling, organism-specific biosystemInterleukin-12 (IL12) is a heterodimer of interleukin-12A (IL12A) and interleukin-12B (IL12B). It is a potent immunoregulatory cytokine involved in the generation of cell-mediated immunity to intrace...
  • Jak-STAT signaling pathway, organism-specific biosystem (from KEGG)
    Jak-STAT signaling pathway, organism-specific biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
  • Jak-STAT signaling pathway, conserved biosystem (from KEGG)
    Jak-STAT signaling pathway, conserved biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
  • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
    Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
  • Th1 and Th2 cell differentiation, organism-specific biosystem (from KEGG)
    Th1 and Th2 cell differentiation, organism-specific biosystemImmunity to different classes of microorganisms is orchestrated by separate lineages of effector T helper (TH)-cells, which differentiate from naive CD4+ precursor cells in response to cues provided ...
  • Th1 and Th2 cell differentiation, conserved biosystem (from KEGG)
    Th1 and Th2 cell differentiation, conserved biosystemImmunity to different classes of microorganisms is orchestrated by separate lineages of effector T helper (TH)-cells, which differentiate from naive CD4+ precursor cells in response to cues provided ...
  • Th17 cell differentiation, organism-specific biosystem (from KEGG)
    Th17 cell differentiation, organism-specific biosystemInterleukin (IL)-17-producing helper T (Th17) cells serve as a subset of CD4+ T cells involved in epithelial cell- and neutrophil mediated immune responses against extracellular microbes and in the p...
  • Th17 cell differentiation, conserved biosystem (from KEGG)
    Th17 cell differentiation, conserved biosystemInterleukin (IL)-17-producing helper T (Th17) cells serve as a subset of CD4+ T cells involved in epithelial cell- and neutrophil mediated immune responses against extracellular microbes and in the p...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC34454

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytokine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytokine receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytokine receptor activity TAS
Traceable Author Statement
more info
PubMed 
contributes_to interleukin-12 receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to interleukin-12 receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to interleukin-12 receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to interleukin-23 binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to interleukin-23 binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to interleukin-23 receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cellular response to interferon-gamma IDA
Inferred from Direct Assay
more info
PubMed 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
PubMed 
interleukin-12-mediated signaling pathway TAS
Traceable Author Statement
more info
 
interleukin-23-mediated signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of T cell mediated cytotoxicity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of T-helper 1 type immune response IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of T-helper 1 type immune response ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of T-helper 17 cell lineage commitment ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of T-helper 17 type immune response ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of activated T cell proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of activated T cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of defense response to virus by host IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of defense response to virus by host ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of interferon-gamma production IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of interferon-gamma production IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of memory T cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
signal transduction IC
Inferred by Curator
more info
PubMed 
Component Evidence Code Pubs
external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
interleukin-12 receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
interleukin-12 receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
interleukin-23 receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
interleukin-23 receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
interleukin-12 receptor subunit beta-1
Names
IL-12 receptor beta component
IL-12 receptor subunit beta-1
IL-12R subunit beta-1
cluster of differentiation 212
interleukin 12 receptor, beta 1
interleukin-12 receptor beta-1 chain

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007366.2 RefSeqGene

    Range
    5134..44955
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_72

mRNA and Protein(s)

  1. NM_001290023.2NP_001276952.1  interleukin-12 receptor subunit beta-1 isoform 3 precursor

    See identical proteins and their annotated locations for NP_001276952.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the use of an alternate promoter and has multiple differences compared to variant 4, one of which results in a translational frameshift. These differences result in distinct 5' and 3' UTRs and the use of a downstream start codon, causing the encoded isoform (3, also known as Short) to contain a shorter N-terminus and a distinct C-terminus compared to isoform 4.
    Source sequence(s)
    AC020904, AI637915, BC137406, BX647221, DA008204
    UniProtKB/Swiss-Prot
    P42701
    Conserved Domains (1) summary
    cd00063
    Location:447537
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
  2. NM_001290024.1NP_001276953.1  interleukin-12 receptor subunit beta-1 isoform 4

    See identical proteins and their annotated locations for NP_001276953.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) encodes the longest isoform (4).
    Source sequence(s)
    AC020904, BX647221
    Conserved Domains (1) summary
    cd00063
    Location:487577
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
  3. NM_005535.3NP_005526.1  interleukin-12 receptor subunit beta-1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_005526.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the use of an alternate promoter, differs in the 5' UTR and uses a downstream start codon compared to variant 4. The encoded isoform (1, also known as Long) has a shorter N-terminus compared to isoform 4.
    Source sequence(s)
    AC020904, AI637915, BX647221, DA008204, U03187
    Consensus CDS
    CCDS54232.1
    UniProtKB/Swiss-Prot
    P42701
    Related
    ENSP00000472165.2, ENST00000593993.6
    Conserved Domains (1) summary
    cd00063
    Location:447537
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
  4. NM_153701.3NP_714912.1  interleukin-12 receptor subunit beta-1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_714912.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the use of an alternate promoter, differs in the 5' UTR and has a different 3' structure which results in a translational frameshift and an early stop codon compared to variant 4. The encoded isoform (2) has a shorter N-terminus and a distinct C-terminus compared to isoform 4.
    Source sequence(s)
    AC020904, BC029121, DA008204
    Consensus CDS
    CCDS32957.1
    UniProtKB/Swiss-Prot
    P42701
    Related
    ENSP00000314425.5, ENST00000322153.11

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    18058994..18099027 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527966.2XP_011526268.1  interleukin-12 receptor subunit beta-1 isoform X1

    Conserved Domains (1) summary
    cd00063
    Location:498588
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
  2. XM_011527967.2XP_011526269.1  interleukin-12 receptor subunit beta-1 isoform X2

    Conserved Domains (1) summary
    cd00063
    Location:494584
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
  3. XM_011527968.3XP_011526270.1  interleukin-12 receptor subunit beta-1 isoform X3

    Conserved Domains (1) summary
    cd00063
    Location:491581
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
  4. XM_011527969.2XP_011526271.1  interleukin-12 receptor subunit beta-1 isoform X4

    Conserved Domains (1) summary
    cd00063
    Location:487577
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
  5. XM_011527974.2XP_011526276.1  interleukin-12 receptor subunit beta-1 isoform X10

    Conserved Domains (1) summary
    cd00063
    Location:454544
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
  6. XM_011527973.2XP_011526275.1  interleukin-12 receptor subunit beta-1 isoform X9

    Conserved Domains (1) summary
    cd00063
    Location:458548
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
  7. XM_017026762.1XP_016882251.1  interleukin-12 receptor subunit beta-1 isoform X13

  8. XM_011527970.2XP_011526272.1  interleukin-12 receptor subunit beta-1 isoform X5

    Conserved Domains (1) summary
    cd00063
    Location:498588
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
  9. XM_011527972.3XP_011526274.1  interleukin-12 receptor subunit beta-1 isoform X8

    Conserved Domains (1) summary
    cd00063
    Location:498588
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
  10. XM_011527971.3XP_011526273.1  interleukin-12 receptor subunit beta-1 isoform X7

    Conserved Domains (1) summary
    cd00063
    Location:498588
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
  11. XM_006722741.3XP_006722804.2  interleukin-12 receptor subunit beta-1 isoform X6

    Conserved Domains (1) summary
    cd00063
    Location:487577
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
  12. XM_011527975.2XP_011526277.1  interleukin-12 receptor subunit beta-1 isoform X11

    Conserved Domains (1) summary
    cd00063
    Location:487577
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
  13. XM_011527976.2XP_011526278.1  interleukin-12 receptor subunit beta-1 isoform X12

    Conserved Domains (1) summary
    cd00063
    Location:498588
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
  14. XM_011527977.2XP_011526279.1  interleukin-12 receptor subunit beta-1 isoform X14

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