Gene and Protein Information
Species	TM	AA	Chromosomal Location	Gene Symbol	Gene Name	Reference
Human	-	980	19q13.42	NLRP7	NLR family pyrin domain containing 7

Previous and Unofficial Names

CLR19.4 | NALP7 | NOD12 | PAN7 | PYPAF3 | NACHT, leucine rich repeat and PYD containing 7 | XXbac-BCX195L8.11-001 | HYDM | NLR family, pyrin domain containing 7

Database Links
Alphafold	Q8WX94 (Hs)
Ensembl Gene	ENSG00000167634 (Hs)
Entrez Gene	199713 (Hs)
Human Protein Atlas	ENSG00000167634 (Hs)
KEGG Gene	hsa:199713 (Hs)
OMIM	609661 (Hs)
Pharos	Q8WX94 (Hs)
UniProtKB	Q8WX94 (Hs)
Wikipedia	NLRP7 (Hs)

Immunopharmacology Comments

NLRP7 is an intracellular pattern recognition receptor (PRR). It is a member of the NACHT, LRR and PYD domains-containing protein (NALP) subfamily of PRRs. The presence of NALPs in inflammasomes underlies their involvement in regulating proinflammatory caspases (esp. caspase 1) and NF-κB.

Immuno Process Associations

Immuno Process:  Inflammation GO Annotations:  Associated to 2 GO processes GO:0050727 regulation of inflammatory response IBA GO:1900016 negative regulation of cytokine production involved in inflammatory response IMP

Immuno Process:  Immune regulation GO Annotations:  Associated to 2 GO processes GO:0050727 regulation of inflammatory response IBA GO:1900016 negative regulation of cytokine production involved in inflammatory response IMP

Immuno Process:  Cytokine production & signalling GO Annotations:  Associated to 3 GO processes GO:0032691 negative regulation of interleukin-1 beta production IMP GO:0071347 cellular response to interleukin-1 IEP GO:1900016 negative regulation of cytokine production involved in inflammatory response IMP

Physiological Functions Comments

Involved in embyronic development and regulation of interleukin 1β.

Clinically-Relevant Mutations and Pathophysiology
Disease:  Abnormal pregnancies
Disease:  Complete hydatidiform mole Synonyms: Hydatidiform mole, recurrent, 1; HYDM1 [OMIM: 231090] OMIM: 231090 Orphanet: ORPHA254688
Disease:  Endometrial cancer Disease Ontology: DOID:1380 OMIM: 608089
Disease:  Partial hydatidiform mole Synonyms: Hydatidiform mole, recurrent, 1; HYDM1 [OMIM: 231090] OMIM: 231090 Orphanet: ORPHA254693
Disease:  Testicular cancer Disease Ontology: DOID:2998