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Gene

IL12B

interleukin 12B

Summary

Cytogenetic location
5q33.3
Coordinates
Chromosome 5: 159,314,780–159,330,487 (GRCh38)
Exons
8 exons across 15.7 kb
Protein
328 amino acids
Also known as
CLMF, IL-12B, NKSF, CLMF2
Previous symbols
NKSF2
MANE Select transcript
ENST00000231228.3NM_002187.3
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.

      • 3 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 IL12B is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 5, with a bracket where IL12B sits. IL12B and 3 genes near it on chromosome 5, from 158,822,634 to 159,822,633.Chromosome 55q33.3p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.3159 Mb159.2 Mb159.4 Mb159.6 Mb159.8 MbEBF1: 158,695,920–159,100,331, reverse strandEBF1RNF145: 159,154,603–159,210,053, reverse strandRNF145UBLCP1: 159,263,072–159,287,721, forward strandUBLCP1IL12B: 159,314,780–159,330,487, reverse strandIL12BDiagram of IL12B: 8 exons on the reverse strand of chromosome 5Exon 7: 2 known disease-causing sitesExon 5: 4 known disease-causing sitesExon 4: 1 known disease-causing siteExon 3: 5 known disease-causing sitesExon 2: 1 known disease-causing siteExon 8: 159,314,780–159,316,100, 1,321 basesExon 7: 159,316,685–159,316,816, 132 basesExon 6: 159,318,736–159,318,893, 158 basesExon 5: 159,320,306–159,320,520, 215 basesExon 4: 159,322,394–159,322,511, 118 basesExon 3: 159,323,054–159,323,329, 276 basesExon 2: 159,326,695–159,326,782, 88 basesExon 1: 159,330,432–159,330,487, 56 bases876543215′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 2.4 kb of the gene's 15.7 kb; 987 of those bases code for the protein.

How a genome test reads IL12B

16

positions in IL12B 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 15.7 kb of IL12B, introns included, not only the 2.4 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.). IL12B gene: interleukin 12B. Retrieved 16 October 2026, from https://dantelabs.com/genes/il12b

Vancouver

Dante Labs. IL12B gene: interleukin 12B [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/il12b

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