NLRP12 NLR family pyrin domain containing 12 [Homo sapiens (human)]
Gene ID: 91662, updated on 22-Apr-2017

Summary

Official Symbol: NLRP12 provided by HGNC 
Official Full Name: NLR family pyrin domain containing 12 provided by HGNC 
Primary source: HGNC:HGNC:22938
See related: Ensembl:ENSG00000142405  MIM:609648;  Vega:OTTHUMG00000060776
Gene typ: eprotein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RNO; PAN6; RNO2; FCAS2; NALP12; PYPAF7; CLR19.3
Summary: This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
Orthologs: mouse all

Genomic Context

Location: 19q13.42
Exon Count: 12
See NLRP12 in Genome Data Viewer Map Viewer

Download a Tabular list of NLRP12 sequence variants currently available in the Infevers database. (.csv file)

Information from: The National Center for Biotechnology Information and Infevers