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Gene

NLRP3

NLR family pyrin domain containing 3

Summary

Cytogenetic location
1q44
Coordinates
Chromosome 1: 247,416,173–247,448,817 (GRCh38)
Exons
10 exons across 32.6 kb
Protein
1,034 amino acids
Inheritance
Autosomal dominant
Also known as
AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1
Previous symbols
C1orf7, CIAS1, DFNA34
MANE Select transcript
ENST00000336119.8NM_001243133.2
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

  • 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.

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

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

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 NLRP3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where NLRP3 sits. NLRP3 and 26 genes near it on chromosome 1, from 246,932,495 to 247,932,494.Chromosome 11q44p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44247 Mb247.2 Mb247.4 Mb247.6 Mb247.8 MbZNF695: 246,945,315–247,008,093, reverse strandZNF695ZNF670-ZNF695: 246,945,547–247,078,811, reverse strandZNF670-ZNF695ZNF670: 247,033,691–247,078,818, reverse strandZNF670ZNF669: 247,098,035–247,104,386, reverse strandZNF669ZNF124: 247,121,975–247,172,063, reverse strandZNF124VN1R5: 247,255,972–247,257,210, forward strandVN1R5ZNF496: 247,290,854–247,332,822, reverse strandZNF496NLRP3: 247,416,173–247,448,817, forward strandNLRP3OR2B11: 247,449,118–247,458,105, reverse strandOR2B11GCSAML: 247,507,058–247,577,690, forward strandGCSAMLOR2C3: 247,524,677–247,536,440, reverse strandOR2C3OR2G2: 247,588,360–247,589,313, forward strandOR2G2OR2G3: 247,605,586–247,606,515, forward strandOR2G3OR14L1: 247,617,143–247,622,372, forward strandOR14L1OR13G1: 247,670,812–247,679,739, reverse strandOR13G1OR6F1: 247,711,436–247,716,646, reverse strandOR6F1: 247,711,813–247,723,764, reverse strandOR14A2: 247,722,957–247,748,141, reverse strandOR14A2OR14K1: 247,738,615–247,739,559, forward strandOR14K1OR1C1: 247,754,846–247,760,556, reverse strandOR1C1OR9H1: 247,770,169–247,779,524, forward strandOR9H1OR14A16: 247,814,660–247,824,119, reverse strandOR14A16OR11L1: 247,840,928–247,841,896, reverse strandOR11L1TRIM58: 247,857,144–247,880,138, forward strandTRIM58OR2W3: 247,895,587–247,896,531, forward strandOR2W3OR2T8: 247,920,252–247,923,152, forward strandOR2T8OR2AJ1: 247,924,889–247,935,339, forward strandOR2AJ1Diagram of NLRP3: 10 exons on the forward strand of chromosome 1Exon 2: 1 known disease-causing siteExon 4: 38 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 1: 247,416,173–247,416,193, 21 basesExon 2: 247,418,053–247,419,077, 1,025 basesExon 3: 247,423,230–247,423,349, 120 basesExon 4: 247,423,847–247,425,599, 1,753 basesExon 5: 247,429,585–247,429,755, 171 basesExon 6: 247,434,103–247,434,273, 171 basesExon 7: 247,435,970–247,436,140, 171 basesExon 8: 247,443,972–247,444,142, 171 basesExon 9: 247,444,651–247,444,821, 171 basesExon 10: 247,448,405–247,448,817, 413 bases123456789105′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 4.2 kb of the gene's 32.6 kb; 3,105 of those bases code for the protein.

How a genome test reads NLRP3

43

positions in NLRP3 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 32.6 kb of NLRP3, introns included, not only the 4.2 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.). NLRP3 gene: NLR family pyrin domain containing 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/nlrp3

Vancouver

Dante Labs. NLRP3 gene: NLR family pyrin domain containing 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/nlrp3

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