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Gene

PLCG2

phospholipase C gamma 2

Summary

Cytogenetic location
16q24.1
Coordinates
Chromosome 16: 81,779,291–81,962,685 (GRCh38)
Exons
33 exons across 183.4 kb
Protein
1,265 amino acids
Inheritance
Autosomal dominant
MANE Select transcript
ENST00000564138.6NM_002661.5
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 reports relevant to this gene

  • Hereditary Periodic Fever Syndromes

    • Cryopyrin-associated periodic syndrome (CAPS)Autosomal dominant

      A spectrum of conditions caused mainly by changes in NLRP3, ranging from cold-induced rashes and fevers to chronic inflammation affecting the skin, joints, hearing and brain.

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

      Interleukin-1 blocking treatment controls symptoms and helps prevent hearing loss and amyloidosis.

  • Rare Monogenic Autoinflammatory Diseases

    • APLAID (PLCG2-associated autoinflammation and immune dysregulation)Autosomal dominant

      Blistering skin inflammation, eye, gut and lung inflammation with antibody deficiency, caused by variants in PLCG2.

      • 3 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How PLCG2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where PLCG2 sits. PLCG2 and 5 genes near it on chromosome 16, from 81,370,988 to 82,370,987.Chromosome 1616q24.1p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.381.4 Mb81.6 Mb81.8 Mb82 Mb82.2 MbGAN: 81,314,932–81,390,884, forward strandGANCMIP: 81,444,800–81,711,762, forward strandCMIPPLCG2: 81,779,291–81,962,685, forward strandPLCG2SDR42E1: 81,988,855–82,011,500, reverse strandSDR42E1HSD17B2: 82,008,119–82,098,534, forward strandHSD17B2MPHOSPH6: 82,131,921–82,170,228, reverse strandMPHOSPH6Diagram of PLCG2: 33 exons on the forward strand of chromosome 16Exon 20: 2 known disease-causing sitesExon 30: 1 known disease-causing siteExon 1: 81,779,291–81,779,424, 134 basesExon 2: 81,785,943–81,786,182, 240 basesExon 3: 81,854,444–81,854,587, 144 basesExon 4: 81,858,263–81,858,356, 94 basesExon 5: 81,859,116–81,859,163, 48 basesExon 6: 81,869,214–81,869,298, 85 basesExon 7: 81,870,852–81,870,935, 84 basesExon 8: 81,880,910–81,880,953, 44 basesExon 9: 81,883,269–81,883,341, 73 basesExon 10: 81,889,172–81,889,273, 102 basesExon 11: 81,891,472–81,891,590, 119 basesExon 12: 81,893,709–81,893,794, 86 basesExon 13: 81,895,807–81,895,927, 121 basesExon 14: 81,900,612–81,900,780, 169 basesExon 15: 81,905,403–81,905,507, 105 basesExon 16: 81,907,685–81,907,774, 90 basesExon 17: 81,908,416–81,908,591, 176 basesExon 18: 81,910,520–81,910,720, 201 basesExon 19: 81,912,597–81,912,716, 120 basesExon 20: 81,919,484–81,919,664, 181 basesExon 21: 81,921,198–81,921,269, 72 basesExon 22: 81,923,485–81,923,594, 110 basesExon 23: 81,927,082–81,927,178, 97 basesExon 24: 81,928,558–81,928,624, 67 basesExon 25: 81,931,497–81,931,654, 158 basesExon 26: 81,934,429–81,934,531, 103 basesExon 27: 81,936,169–81,936,378, 210 basesExon 28: 81,937,758–81,937,903, 146 basesExon 29: 81,938,801–81,938,915, 115 basesExon 30: 81,939,892–81,940,059, 168 basesExon 31: 81,946,175–81,946,263, 89 basesExon 32: 81,956,695–81,956,879, 185 basesExon 33: 81,957,956–81,962,685, 4,730 bases151015202530335′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 8.7 kb of the gene's 183.4 kb; 3,798 of those bases code for the protein.

How a genome test reads PLCG2

3

positions in PLCG2 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 183.4 kb of PLCG2, introns included, not only the 8.7 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.). PLCG2 gene: phospholipase C gamma 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/plcg2

Vancouver

Dante Labs. PLCG2 gene: phospholipase C gamma 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/plcg2

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