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

Gene ID: 3594, updated on 6-Jul-2014
Official Symbol
IL12RB1provided by HGNC
Official Full Name
interleukin 12 receptor, beta 1provided by HGNC
Primary source
HGNC:5971
See related
Ensembl:ENSG00000096996; HPRD:03363; MIM:601604; Vega:OTTHUMG00000183417
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; 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]
See IL12RB1 in Epigenomics, MapViewer
Location:
19p13.1
Exon count :
19
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 19 NC_000019.10 (18059561..18086996, 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 apolipoprotein A-I binding protein pseudogene Neighboring gene ribosomal protein S18 pseudogene 13 Neighboring gene microtubule associated serine/threonine kinase 3 Neighboring gene phosphoinositide-3-kinase, regulatory subunit 2 (beta)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Disseminated atypical mycobacterial infection
MedGen: C0694566 OMIM: 209950 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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 IPI
Inferred from Physical Interaction
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 IDA
Inferred from Direct Assay
more info
PubMed 
interleukin-23-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
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 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 IEA
Inferred from Electronic Annotation
more info
 
interleukin-12 receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
interleukin-23 receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
interleukin-12 receptor subunit beta-1
Names
interleukin-12 receptor subunit beta-1
IL-12R subunit beta-1
IL-12 receptor beta component
IL-12 receptor subunit beta-1
cluster of differentiation 212
interleukin-12 receptor beta-1 chain

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 

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

mRNA and Protein(s)

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

    See proteins identical to 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
    Blast Score: 155
    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 proteins identical to 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
    Blast Score: 155
    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_005535.2NP_005526.1  interleukin-12 receptor subunit beta-1 isoform 1 precursor

    See proteins identical to 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
    Conserved Domains (1) summary
    cd00063
    Location:447537
    Blast Score: 155
    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_153701.2NP_714912.1  interleukin-12 receptor subunit beta-1 isoform 2 precursor

    See proteins identical to 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, OTTHUMP00000271819, ENST00000322153, OTTHUMT00000466856

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 

    Range
    18059561..18086996
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259893.1XP_005259950.1  

    Conserved Domains (1) summary
    cd00063
    Location:447537
    Blast Score: 155
    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_006722741.1XP_006722804.1  

    Conserved Domains (1) summary
    cd00063
    Location:447537
    Blast Score: 154
    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 ...

Alternate HuRef

Genomic

  1. AC_000151.1 

    Range
    17735230..17761934
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 

    Range
    18169971..18197251
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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