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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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NLRP7
NLR family pyrin domain containing 7
Chromosome 19 Β· 19q13.42
NCBI Gene: 199713Ensembl: ENSG00000167634.12HGNC: HGNC:22947UniProt: A0A0G2JNK3
92PubMed Papers
1Diseases
0Drugs
24Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
negative regulation of cytokine production involved in inflammatory responsecell cortexcaspase bindingnegative regulation of protein processingHydatidiform mole, recurrent, 1
✦AI Summary

NLRP7 is a cytosolic pattern recognition receptor and member of the NLRP inflammasome family involved in innate immune regulation 1. As a lesser-studied inflammasome sensor, NLRP7 can form inflammasome complexes that activate caspase-1, leading to IL-1Ξ² and IL-18 secretion and pyroptosis in response to pathogen-associated molecular patterns (PAMPs) and damage-associated molecular patterns (DAMPs) 23. Notably, NLRP7 senses bacterial lipoproteins and participates in the subcortical maternal complex, interacting with NLRP5, TLE6, PADI6, NLRP2, KHDC3L, OOEP, and ZBED3 45. Beyond inflammasome function, NLRP7 operates through inflammasome-independent pathways to regulate immune tolerance in trophoblast cells via HLA family, Ξ²CG, and PD-L1 modulation 6. Clinically, NLRP7 mutations cause recurrent hydatidiform moles and female infertility characterized by early embryo arrest 57. Five heterozygous NLRP7 variants impair oocyte quality and embryonic development 5. NLRP7 overexpression in gestational choriocarcinoma may enhance immune tolerance and promote malignant trophoblast proliferation 6. Understanding NLRP7's dual inflammasome-dependent and independent functions is critical for therapeutic targeting in inflammatory and reproductive disorders.

Sources cited
1
NLRP7 is a member of the NLRP inflammasome family involved in pattern recognition and innate immunity
PMID: 38644450
2
NLRP7 is an emerging inflammasome sensor that activates caspase-1 and drives IL-1Ξ²/IL-18 secretion and pyroptosis
PMID: 39351983
3
NLRP7 is a lesser-known inflammasome that responds to PAMPs and DAMPs via caspase-1 activation
PMID: 41062723
4
NLRP7 senses bacterial lipoproteins and functions in inflammation sensing
PMID: 33590488
5
NLRP7 participates in the subcortical maternal complex, interacts with multiple maternal effect proteins, and NLRP7 variants cause early embryo arrest and female infertility
PMID: 37148315
6
NLRP7 regulates immune tolerance via HLA family, Ξ²CG, and PD-L1 and increases trophoblast proliferation
PMID: 35203462
7
NLRP7 mutations are associated with familial complete hydatidiform moles as an imprinting disorder
PMID: 22122706
Disease Associationsβ“˜1
Hydatidiform mole, recurrent, 1UniProt
Pathogenic Variants24
NM_001127255.2(NLRP7):c.2248C>G (p.Leu750Val)Pathogenic
Hydatidiform mole, recurrent, 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 750
NM_001127255.2(NLRP7):c.2738A>G (p.Asn913Ser)Likely pathogenic
Hydatidiform mole, recurrent, 1
β˜…β˜…β˜†β˜†2025β†’ Residue 913
NM_001127255.2(NLRP7):c.818G>A (p.Trp273Ter)Pathogenic
Hydatidiform mole, recurrent, 1
β˜…β˜†β˜†β˜†2024β†’ Residue 273
NM_001127255.2(NLRP7):c.2161C>T (p.Arg721Trp)Pathogenic
Hydatidiform mole, recurrent, 1
β˜…β˜†β˜†β˜†2023β†’ Residue 721
NM_001127255.2(NLRP7):c.2177C>T (p.Ala726Val)Likely pathogenic
Hydatidiform mole, recurrent, 1
β˜…β˜†β˜†β˜†2023β†’ Residue 726
NM_001127255.2(NLRP7):c.2808dup (p.Arg937fs)Likely pathogenic
NLRP7-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 937
NM_001127255.2(NLRP7):c.2078G>C (p.Arg693Pro)Pathogenic
Hydatidiform mole, recurrent, 1
β˜…β˜†β˜†β˜†2023β†’ Residue 693
NM_001127255.2(NLRP7):c.1224_1232delGCGGGGCGCinsT (p.Arg409Alafs)Pathogenic
Hydatidiform mole
β˜…β˜†β˜†β˜†2021β†’ Residue 409
NM_001127255.2(NLRP7):c.2320_2321insT (p.Thr774Ilefs)Likely pathogenic
Hydatidiform mole, recurrent, 1
β˜…β˜†β˜†β˜†2020β†’ Residue 774
NM_001127255.2(NLRP7):c.2078G>A (p.Arg693Gln)Pathogenic
Hydatidiform mole, recurrent, 1|Gastric cancer
β˜…β˜†β˜†β˜†2019β†’ Residue 693
NM_001127255.2(NLRP7):c.336dup (p.Glu113Glyfs)Pathogenic
Hydatidiform mole, recurrent, 1|Hydatidiform mole
β˜…β˜†β˜†β˜†2019β†’ Residue 113
NM_001127255.2(NLRP7):c.1072C>T (p.Gln358Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 358
NM_001127255.2(NLRP7):c.2077C>T (p.Arg693Trp)Pathogenic
Hydatidiform mole, recurrent, 1
β˜…β˜†β˜†β˜†2017β†’ Residue 693
NM_001127255.2(NLRP7):c.277+1G>ALikely pathogenic
Hydatidiform mole, recurrent, 1
β˜…β˜†β˜†β˜†
NM_001127255.2(NLRP7):c.2471+1G>APathogenic
Hydatidiform mole, recurrent, 1
β˜…β˜†β˜†β˜†
NM_001127255.2(NLRP7):c.2218_2224del (p.Gly740fs)Likely pathogenic
Hydatidiform mole, recurrent, 1
β˜…β˜†β˜†β˜†β†’ Residue 740
NM_001127255.2(NLRP7):c.2227G>A (p.Glu743Lys)Pathogenic
Oocyte/zygote/embryo maturation arrest 25
β˜†β˜†β˜†β˜†2026β†’ Residue 743
NM_001127255.2(NLRP7):c.1857_1858delAC (p.Lys619Asnfs)Pathogenic
Hydatidiform mole, recurrent, 1
β˜†β˜†β˜†β˜†2020β†’ Residue 619
NM_001127255.2(NLRP7):c.939_952dup (p.Tyr318Cysfs)Pathogenic
Hydatidiform mole, recurrent, 1
β˜†β˜†β˜†β˜†2013β†’ Residue 318
NM_001127255.2(NLRP7):c.1193T>G (p.Leu398Arg)Pathogenic
Hydatidiform mole, recurrent, 1
β˜†β˜†β˜†β˜†2009β†’ Residue 398
View on ClinVar β†—
Related Genes
PYDC1Protein interaction98%CASP1Protein interaction91%IFI16Protein interaction91%AIM2Protein interaction91%NLRP1Protein interaction91%PYCARDProtein interaction91%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
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NLRP7PYDC1CASP1IFI16AIM2NLRP1PYCARD
PROTEIN STRUCTURE
Preparing viewer…
PDB2KM6 Β· NMR
View on RCSB β†—
RankingsWhere NLRP7 stands among ~20K protein-coding genes
  • #5,204of 20,598
    Most Researched92
  • #2,015of 5,498
    Most Pathogenic Variants24
Genes detectedNLRP7
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
NLRP inflammasomes in health and disease.
PMID: 38644450
Mol Biomed Β· 2024
1.00
2
NLRP7 participates in the human subcortical maternal complex and its variants cause female infertility characterized by early embryo arrest.
PMID: 37148315
J Mol Med (Berl) Β· 2023
0.90
3
Enigmatic inflammasomes.
PMID: 33590488
Immunology Β· 2021
0.80
4
Atypical Inflammasomes.
PMID: 27221480
Methods Mol Biol Β· 2016
0.70
5
Molecular mechanisms of emerging inflammasome complexes and their activation and signaling in inflammation and pyroptosis.
PMID: 39351983
Immunol Rev Β· 2025
0.60