U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 3595, updated on 3-Dec-2024

    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; AllianceGenome:HGNC:5972
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See IL12RB2 in Genome Data Viewer
    Location:
    1p31.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (67307364..67398724)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (67181083..67276270)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (67773047..67864407)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U4atac small nuclear 4, pseudogene Neighboring gene DNAJB6 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1174 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 979 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 980 Neighboring gene NANOG hESC enhancer GRCh37_chr1:67784539-67785040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1175 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1177 Neighboring gene RNA, U6 small nuclear 387, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:67894622-67895258 Neighboring gene SERPINE1 mRNA binding protein 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:67895894-67896529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1180 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:67924294-67925217 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:67926895-67927395 Neighboring gene MPRA-validated peak278 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr1:67943422-67943604 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:67945137-67945276 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:67965969-67966472 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:67980737-67981378 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:67981379-67982018 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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables coreceptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cytokine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cytokine receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cytokine receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in plasma membrane IC
    Inferred by Curator
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    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)

    NEW Try the new Transcript table

    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_032977.2 RefSeqGene

      Range
      5523..96374
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_707

    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/TrEMBL
      B4DGA4, B7ZB60
      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/TrEMBL
      A0A8Q3SIS8, A0A8Q3SIX0
      Related
      ENSP00000512853.1, ENST00000696755.1
      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. 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/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
      Consensus CDS
      CCDS638.1
      UniProtKB/Swiss-Prot
      B1AN98, B7ZKL9, F5H7L6, Q2M3V3, Q99665
      Related
      ENSP00000501329.1, ENST00000674203.2
      Conserved Domains (2) 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
    6. NM_001559.3NP_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
      Consensus CDS
      CCDS638.1
      UniProtKB/Swiss-Prot
      B1AN98, B7ZKL9, F5H7L6, Q2M3V3, Q99665
      Related
      ENSP00000262345.1, ENST00000262345.5
      Conserved Domains (2) 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

    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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      67307364..67398724
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541384.3XP_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_006710617.3XP_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_005270827.3XP_005270884.1  interleukin-12 receptor subunit beta-2 isoform X1

      See identical proteins and their annotated locations for XP_005270884.1

      UniProtKB/Swiss-Prot
      B1AN98, B7ZKL9, F5H7L6, Q2M3V3, Q99665
      Related
      ENSP00000497959.1, ENST00000648487.1
      Conserved Domains (2) 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
    4. XM_017001203.2XP_016856692.1  interleukin-12 receptor subunit beta-2 isoform X4

      UniProtKB/TrEMBL
      B4DGA4, B7ZB60
      Related
      ENSP00000512854.1, ENST00000696757.1
      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 ...
    5. XM_047419665.1XP_047275621.1  interleukin-12 receptor subunit beta-2 isoform X2

    6. XM_047419669.1XP_047275625.1  interleukin-12 receptor subunit beta-2 isoform X5

      UniProtKB/TrEMBL
      A0A0A0MTN7
      Related
      ENSP00000445276.3, ENST00000541374.6
    7. XM_005270828.4XP_005270885.1  interleukin-12 receptor subunit beta-2 isoform X1

      See identical proteins and their annotated locations for XP_005270885.1

      UniProtKB/Swiss-Prot
      B1AN98, B7ZKL9, F5H7L6, Q2M3V3, Q99665
      Conserved Domains (2) 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
    8. XM_047419668.1XP_047275624.1  interleukin-12 receptor subunit beta-2 isoform X4

      UniProtKB/TrEMBL
      B4DGA4, B7ZB60
    9. XM_047419666.1XP_047275622.1  interleukin-12 receptor subunit beta-2 isoform X2

    10. XM_047419667.1XP_047275623.1  interleukin-12 receptor subunit beta-2 isoform X3

    11. XM_011541383.3XP_011539685.1  interleukin-12 receptor subunit beta-2 isoform X1

      See identical proteins and their annotated locations for XP_011539685.1

      UniProtKB/Swiss-Prot
      B1AN98, B7ZKL9, F5H7L6, Q2M3V3, Q99665
      Conserved Domains (2) 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
    12. XM_047419670.1XP_047275626.1  interleukin-12 receptor subunit beta-2 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      67181083..67276270
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336407.1XP_054192382.1  interleukin-12 receptor subunit beta-2 isoform X1

      UniProtKB/Swiss-Prot
      B1AN98, B7ZKL9, F5H7L6, Q2M3V3, Q99665
    2. XM_054336408.1XP_054192383.1  interleukin-12 receptor subunit beta-2 isoform X1

      UniProtKB/Swiss-Prot
      B1AN98, B7ZKL9, F5H7L6, Q2M3V3, Q99665
    3. XM_054336410.1XP_054192385.1  interleukin-12 receptor subunit beta-2 isoform X2

    4. XM_054336409.1XP_054192384.1  interleukin-12 receptor subunit beta-2 isoform X1

      UniProtKB/Swiss-Prot
      B1AN98, B7ZKL9, F5H7L6, Q2M3V3, Q99665
    5. XM_054336411.1XP_054192386.1  interleukin-12 receptor subunit beta-2 isoform X6