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IL12RB2 interleukin 12 receptor subunit beta 2 [ Homo sapiens (human) ]

Gene ID: 3595, updated on 1-Jun-2020

Summary

Official Symbol
IL12RB2provided by HGNC
Official Full Name
interleukin 12 receptor subunit beta 2provided by HGNC
Primary source
HGNC:HGNC:5972
See related
Ensembl:ENSG00000081985 MIM:601642
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
Summary
The protein encoded by this gene is a type I transmembrane protein identified as a subunit of the interleukin 12 receptor complex. The coexpression of this and IL12RB1 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. The expression of this gene is up-regulated by interferon gamma in Th1 cells, and plays a role in Th1 cell differentiation. The up-regulation of this gene is found to be associated with a number of infectious diseases, such as Crohn's disease and leprosy, which is thought to contribute to the inflammatory response and host defense. Several transcript variants encoding different isoforms and non-protein coding transcripts have been found for this gene. [provided by RefSeq, Apr 2012]
Expression
Broad expression in placenta (RPKM 2.3), brain (RPKM 0.9) and 18 other tissues See more
Orthologs

Genomic context

See IL12RB2 in Genome Data Viewer
Location:
1p31.3
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (67307351..67398724)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (67773047..67862583)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U4atac small nuclear 4, pseudogene Neighboring gene DNAJB6 pseudogene 4 Neighboring gene uncharacterized LOC105378779 Neighboring gene RNA, U6 small nuclear 387, pseudogene Neighboring gene SERPINE1 mRNA binding protein 1 Neighboring gene long intergenic non-protein coding RNA 1702

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

NHGRI GWAS Catalog

Description
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
NHGRI GWA Catalog
Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behçet's disease susceptibility loci.
NHGRI GWA Catalog
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
NHGRI GWA Catalog
Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease.
NHGRI GWA Catalog
Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 
protein kinase binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell surface receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
cytokine-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
interferon-gamma production IEA
Inferred from Electronic Annotation
more info
 
interleukin-12-mediated signaling pathway TAS
Traceable Author Statement
more info
 
interleukin-35-mediated signaling pathway TAS
Traceable Author Statement
more info
 
peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell proliferation TAS
Traceable Author Statement
more info
PubMed 
positive regulation of interferon-gamma production IDA
Inferred from Direct Assay
more info
PubMed 
response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
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-2
Names
IL-12 receptor subunit beta-2
IL-12R subunit beta-2
interleukin 12 receptor, beta 2
interleukin-12 receptor beta-2 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_032977.1 RefSeqGene

    Range
    5001..94537
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001258214.1NP_001245143.1  interleukin-12 receptor subunit beta-2 isoform b precursor

    See identical proteins and their annotated locations for NP_001245143.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate coding exon compared to variant 1, that causes a frameshift. Variants 2 and 7 encode the same isoform (b), which has a shorter and distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AK294494, AL358512, AL389925, DA223630, DB126833, U64198
    Consensus CDS
    CCDS58006.1
    UniProtKB/Swiss-Prot
    Q99665
    UniProtKB/TrEMBL
    B4DGA4
    Related
    ENSP00000360039.1, ENST00000371000.5
    Conserved Domains (3) summary
    cd00063
    Location:423511
    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 ...
    pfam06328
    Location:28110
    Lep_receptor_Ig; Ig-like C2-type domain
    cl21522
    Location:127179
    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_001258215.1NP_001245144.1  interleukin-12 receptor subunit beta-2 isoform c precursor

    See identical proteins and their annotated locations for NP_001245144.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AL358512, AL389925, BC143249, DB126833, U64198
    Consensus CDS
    CCDS58007.1
    UniProtKB/Swiss-Prot
    Q99665
    Related
    ENSP00000442443.1, ENST00000544434.5
    Conserved Domains (3) summary
    cd00063
    Location:423529
    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 ...
    pfam06328
    Location:28110
    Lep_receptor_Ig; Ig-like C2-type domain
    cl21522
    Location:127179
    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_001258216.1NP_001245145.1  interleukin-12 receptor subunit beta-2 isoform d precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate coding exons compared to variant 1, that causes a frameshift. The resulting isoform (d) has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AL358512, AL389925, BC143250, DB126833, U64198
    Consensus CDS
    CCDS72805.1
    UniProtKB/Swiss-Prot
    Q99665
    UniProtKB/TrEMBL
    A0A0A0MTN7
    Related
    ENSP00000445276.2, ENST00000541374.5
    Conserved Domains (3) summary
    cd00063
    Location:423511
    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 ...
    pfam06328
    Location:28110
    Lep_receptor_Ig; Ig-like C2-type domain
    cl21522
    Location:127179
    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_001319233.1NP_001306162.1  interleukin-12 receptor subunit beta-2 isoform b precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR and lacks an alternate exon in the 3' coding region, resulting in a frameshift and an early stop codon, compared to variant 1. Variants 2 and 7 encode the same isoform (b), which has a shorter and distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AK294494, AK316525, AL358512, AL389925, BC143248, U64198
    Consensus CDS
    CCDS58006.1
    UniProtKB/Swiss-Prot
    Q99665
    UniProtKB/TrEMBL
    B4DGA4, B7ZB60
    Conserved Domains (3) summary
    cd00063
    Location:423511
    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 ...
    pfam06328
    Location:28110
    Lep_receptor_Ig; Ig-like C2-type domain
    cl21522
    Location:127179
    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. NM_001374259.2NP_001361188.1  interleukin-12 receptor subunit beta-2 isoform a precursor

    Status: REVIEWED

    Source sequence(s)
    AL358512, AL389925
    Related
    ENSP00000501329.1, ENST00000674203.1
  6. NM_001559.2NP_001550.1  interleukin-12 receptor subunit beta-2 isoform a precursor

    See identical proteins and their annotated locations for NP_001550.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AL358512, AL389925, DB126833, U64198
    Consensus CDS
    CCDS638.1
    UniProtKB/Swiss-Prot
    Q99665
    Related
    ENSP00000262345.1, ENST00000262345.5
    Conserved Domains (3) summary
    cd00063
    Location:423511
    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 ...
    pfam06328
    Location:28110
    Lep_receptor_Ig; Ig-like C2-type domain
    cl21522
    Location:127179
    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 ...

RNA

  1. NR_047583.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame exon and lacks another alternate coding exon compared to variant 1, that causes a frameshift. The resulting transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is therefore thought to be non-protein coding.
    Source sequence(s)
    AL358512, AL389925, BC143248, DB126833, U64198
  2. NR_047584.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate exon compared to variant 1, that causes a frameshift. The resulting transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is therefore thought to be non-protein coding.
    Source sequence(s)
    AL358512, AL389925, BC143252, DB126833, U64198

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    67307351..67398724
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541384.2XP_011539686.1  interleukin-12 receptor subunit beta-2 isoform X2

    Conserved Domains (3) summary
    cd00063
    Location:423511
    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 ...
    pfam06328
    Location:28110
    Lep_receptor_Ig; Ig-like C2-type domain
    cl21522
    Location:127179
    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_006710617.2XP_006710680.1  interleukin-12 receptor subunit beta-2 isoform X3

    See identical proteins and their annotated locations for XP_006710680.1

    UniProtKB/Swiss-Prot
    Q99665
    Conserved Domains (3) summary
    cd00063
    Location:423529
    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 ...
    pfam06328
    Location:28110
    Lep_receptor_Ig; Ig-like C2-type domain
    cl21522
    Location:127179
    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_005270827.2XP_005270884.1  interleukin-12 receptor subunit beta-2 isoform X1

    See identical proteins and their annotated locations for XP_005270884.1

    UniProtKB/Swiss-Prot
    Q99665
    Related
    ENSP00000497959.1, ENST00000648487.1
    Conserved Domains (3) summary
    cd00063
    Location:423511
    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 ...
    pfam06328
    Location:28110
    Lep_receptor_Ig; Ig-like C2-type domain
    cl21522
    Location:127179
    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_017001203.1XP_016856692.1  interleukin-12 receptor subunit beta-2 isoform X4

    UniProtKB/Swiss-Prot
    Q99665
    Conserved Domains (3) summary
    cd00063
    Location:423511
    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 ...
    pfam06328
    Location:28110
    Lep_receptor_Ig; Ig-like C2-type domain
    cl21522
    Location:127179
    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_005270828.3XP_005270885.1  interleukin-12 receptor subunit beta-2 isoform X1

    See identical proteins and their annotated locations for XP_005270885.1

    UniProtKB/Swiss-Prot
    Q99665
    Conserved Domains (3) summary
    cd00063
    Location:423511
    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 ...
    pfam06328
    Location:28110
    Lep_receptor_Ig; Ig-like C2-type domain
    cl21522
    Location:127179
    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_017001204.1XP_016856693.1  interleukin-12 receptor subunit beta-2 isoform X5

  7. XM_011541383.2XP_011539685.1  interleukin-12 receptor subunit beta-2 isoform X1

    See identical proteins and their annotated locations for XP_011539685.1

    UniProtKB/Swiss-Prot
    Q99665
    Conserved Domains (3) summary
    cd00063
    Location:423511
    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 ...
    pfam06328
    Location:28110
    Lep_receptor_Ig; Ig-like C2-type domain
    cl21522
    Location:127179
    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 ...
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