Skip to content
Use your HSA or FSA funds

Gene

IL12RB1

interleukin 12 receptor subunit beta 1

Summary

Cytogenetic location
19p13.11
Coordinates
Chromosome 19: 18,058,995–18,086,934 (GRCh38)
Exons
17 exons across 27.9 kb
Protein
662 amino acids
Also known as
CD212
Previous symbols
IL12RB
MANE Select transcript
ENST00000593993.7NM_005535.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Mendelian Susceptibility to Mycobacterial Disease (MSMD)

    • Mendelian susceptibility to mycobacterial disease

      Inherited defects in the IL-12/interferon-gamma pathway, caused by genes such as IL12RB1, IL12B, IFNGR1, IFNGR2, STAT1, IRF8, ISG15 and RORC.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Affected people and at-risk relatives should avoid BCG and other live vaccines, infections need prolonged treatment, and some forms respond to interferon-gamma.

How IL12RB1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 19, with a bracket where IL12RB1 sits. IL12RB1 and 34 genes near it on chromosome 19, from 17,572,965 to 18,572,964.Chromosome 1919p13.11p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4317.6 Mb17.8 Mb18 Mb18.2 Mb18.4 MbCOLGALT1: 17,555,590–17,583,162, forward strandCOLGALT1UNC13A: 17,601,327–17,688,382, reverse strandUNC13AMAP1S: 17,719,242–17,734,515, forward strandMAP1SFCHO1: 17,747,701–17,788,572, forward strandFCHO1B3GNT3: 17,794,697–17,814,175, forward strandB3GNT3INSL3: 17,816,512–17,821,574, reverse strandINSL3JAK3: 17,824,780–17,848,071, reverse strandJAK3RPL18A: 17,859,868–17,871,283, forward strandRPL18ASLC5A5: 17,871,939–17,895,174, forward strandSLC5A5CCDC124: 17,932,588–17,944,914, forward strandCCDC124KCNN1: 17,947,484–18,000,085, forward strandKCNN1ARRDC2: 18,001,126–18,015,694, forward strandARRDC2IL12RB1: 18,058,995–18,086,934, reverse strandIL12RB1MAST3: 18,097,749–18,151,692, forward strandMAST3PIK3R2: 18,153,155–18,170,541, forward strandPIK3R2: 18,153,158–18,178,117, forward strandIFI30: 18,173,150–18,178,122, forward strandIFI30MPV17L2: 18,193,197–18,196,948, forward strandMPV17L2RAB3A: 18,196,752–18,204,055, reverse strandPDE4C: 18,207,961–18,255,419, reverse strandPDE4CPDE4C: 18,207,965–18,248,200, reverse strandPDE4CCIST1: 18,249,950–18,255,400, reverse strandCIST1IQCN: 18,257,098–18,274,500, reverse strandIQCNJUND: 18,279,694–18,281,622, reverse strandJUNDLSM4: 18,306,231–18,323,112, reverse strandLSM4PGPEP1: 18,340,562–18,369,950, forward strandPGPEP1GDF15: 18,374,731–18,389,176, forward strandGDF15LRRC25: 18,390,351–18,397,622, reverse strandLRRC25SSBP4: 18,418,864–18,434,563, forward strandSSBP4ISYNA1: 18,434,388–18,438,309, reverse strandISYNA1ELL: 18,442,663–18,522,116, reverse strandELLFKBP8: 18,531,751–18,544,264, reverse strandFKBP8KXD1: 18,557,683–18,569,387, forward strandKXD1UBA52: 18,571,722–18,577,550, forward strandUBA52CRLF1: 18,572,220–18,607,741, reverse strandCRLF1Diagram of IL12RB1: 17 exons on the reverse strand of chromosome 19Exon 16: 4 known disease-causing sitesExon 15: 1 known disease-causing siteExon 14: 2 known disease-causing sitesExon 13: 5 known disease-causing sitesExon 12: 4 known disease-causing sitesExon 11: 4 known disease-causing sitesExon 9: 8 known disease-causing sitesExon 7: 5 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 5: 5 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 2: 1 known disease-causing siteExon 1: 3 known disease-causing sitesExon 17: 18,058,995–18,059,613, 619 basesExon 16: 18,059,894–18,060,085, 192 basesExon 15: 18,061,122–18,061,197, 76 basesExon 14: 18,062,181–18,062,277, 97 basesExon 13: 18,063,876–18,064,010, 135 basesExon 12: 18,066,542–18,066,697, 156 basesExon 11: 18,068,389–18,068,526, 138 basesExon 10: 18,069,546–18,069,713, 168 basesExon 9: 18,072,112–18,072,349, 238 basesExon 8: 18,073,517–18,073,599, 83 basesExon 7: 18,075,749–18,075,868, 120 basesExon 6: 18,076,297–18,076,327, 31 basesExon 5: 18,077,516–18,077,655, 140 basesExon 4: 18,080,832–18,081,001, 170 basesExon 3: 18,082,150–18,082,264, 115 basesExon 2: 18,083,432–18,083,491, 60 basesExon 1: 18,086,760–18,086,934, 175 bases17161514131211109876543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.7 kb of the gene's 27.9 kb; 1,989 of those bases code for the protein.

How a genome test reads IL12RB1

65

positions in IL12RB1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 27.9 kb of IL12RB1, introns included, not only the 2.7 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). IL12RB1 gene: interleukin 12 receptor subunit beta 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/il12rb1

Vancouver

Dante Labs. IL12RB1 gene: interleukin 12 receptor subunit beta 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/il12rb1

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test