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Gene

NLRP5

NLR family pyrin domain containing 5

Summary

Cytogenetic location
19q13.43
Coordinates
Chromosome 19: 55,986,775–56,061,810 (GRCh38)
Exons
15 exons across 75 kb
Protein
1,149 amino acids
Inheritance
Autosomal dominant
Also known as
PYPAF8, MATER, PAN11, CLR19.8
Previous symbols
NALP5
MANE Select transcript
ENST00000850973.1NM_001433705.1
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

  • Female Infertility

    • inherited oocyte maturation defect
      • 2 GenCC submitters rate it definitive or strong

  • Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-Wiedemann

    • Beckwith-Wiedemann syndrome

      An overgrowth disorder caused by imprinting changes at 11p15 (and sometimes CDKN1C variants) that can cause large birth size, an enlarged tongue, abdominal wall defects and a higher risk of childhood tumours such as Wilms tumour.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Diagnosis leads to childhood tumour surveillance, including abdominal ultrasound.

Broader groupings

  • Hypertrophic Cardiomyopathy

    • Autosomal dominant

      One of 62 genes linked to it

      A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling

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 NLRP5 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 NLRP5 sits. NLRP5 and 30 genes near it on chromosome 19, from 55,524,293 to 56,524,292.Chromosome 1919q13.43p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4355.6 Mb55.8 Mb56 Mb56.2 Mb56.4 MbSBK2: 55,528,607–55,537,143, reverse strandSBK2SBK3: 55,539,018–55,550,284, reverse strandSBK3ZNF579: 55,576,774–55,580,921, reverse strandZNF579FIZ1: 55,591,371–55,606,194, reverse strandZNF524: 55,599,714–55,603,592, forward strandZNF865: 55,605,502–55,617,269, forward strandZNF784: 55,620,741–55,624,570, reverse strandZNF581: 55,624,664–55,647,294, forward strandZNF581ZNF580: 55,635,003–55,643,470, forward strandZNF580CCDC106: 55,640,967–55,653,161, forward strandCCDC106U2AF2: 55,654,115–55,674,717, forward strandU2AF2EPN1: 55,675,109–55,709,858, forward strandEPN1NLRP9: 55,708,438–55,738,402, reverse strandNLRP9RFPL4A: 55,759,043–55,763,424, forward strandRFPL4ARFPL4AL1: 55,769,118–55,773,420, forward strandRFPL4AL1NLRP11: 55,785,397–55,836,800, reverse strandNLRP11NLRP4: 55,836,540–55,881,855, forward strandNLRP4NLRP13: 55,891,699–55,932,336, reverse strandNLRP13NLRP8: 55,947,832–55,981,158, forward strandNLRP8NLRP5: 55,986,775–56,061,810, forward strandNLRP5ZNF787: 56,087,366–56,121,534, reverse strandZNF787ZNF444: 56,132,599–56,160,897, forward strandZNF444GALP: 56,176,001–56,185,775, forward strandGALPZSCAN5B: 56,189,686–56,197,815, reverse strandZSCAN5BZSCAN5C: 56,202,273–56,209,461, forward strandZSCAN5CZSCAN5A: 56,219,670–56,368,383, reverse strandZSCAN5AEDDM13: 56,272,735–56,310,454, forward strandEDDM13ZNF582: 56,375,840–56,393,606, reverse strandZNF582ZNF583: 56,397,966–56,436,035, forward strandZNF583ZNF667: 56,438,631–56,478,099, reverse strandZNF667ZNF471: 56,507,730–56,530,276, forward strandZNF471Diagram of NLRP5: 15 exons on the forward strand of chromosome 19Exon 2: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 1: 55,986,775–55,986,821, 47 basesExon 2: 56,003,736–56,004,095, 360 basesExon 3: 56,008,788–56,008,853, 66 basesExon 4: 56,015,742–56,015,798, 57 basesExon 5: 56,019,342–56,019,398, 57 basesExon 6: 56,020,375–56,020,431, 57 basesExon 7: 56,026,913–56,028,509, 1,597 basesExon 8: 56,032,611–56,032,781, 171 basesExon 9: 56,033,542–56,033,709, 168 basesExon 10: 56,038,025–56,038,195, 171 basesExon 11: 56,040,922–56,041,092, 171 basesExon 12: 56,050,418–56,050,588, 171 basesExon 13: 56,053,638–56,053,808, 171 basesExon 14: 56,058,240–56,058,410, 171 basesExon 15: 56,061,396–56,061,810, 415 bases12468101214155′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 3.9 kb of the gene's 75 kb; 3,450 of those bases code for the protein.

How a genome test reads NLRP5

2

positions in NLRP5 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 75 kb of NLRP5, introns included, not only the 3.9 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.). NLRP5 gene: NLR family pyrin domain containing 5. Retrieved 17 October 2026, from https://dantelabs.com/genes/nlrp5

Vancouver

Dante Labs. NLRP5 gene: NLR family pyrin domain containing 5 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/nlrp5

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