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... See more...

Aliases for NLRP12 Gene

Aliases for NLRP12 Gene

  • NLR Family Pyrin Domain Containing 12 2 3 5
  • PYPAF7 2 3 4
  • Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin Domain Containing 12 2 3
  • NACHT, LRR And PYD Domains-Containing Protein 12 3 4
  • PYRIN-Containing APAF1-Like Protein 7 3 4
  • Regulated By Nitric Oxide 3 4
  • CLR19.3 2 3
  • NALP12 3 4
  • PAN6 2 3
  • RNO2 2 3
  • RNO 3 4
  • NACHT, Leucine Rich Repeat And PYD Containing 12 2
  • Monarch 1 3
  • Monarch-1 4
  • Monarch1 2
  • NLRP12 5
  • FCAS2 3

External Ids for NLRP12 Gene

Previous HGNC Symbols for NLRP12 Gene

  • NALP12

Previous GeneCards Identifiers for NLRP12 Gene

  • GC19M058989
  • GC19M054296
  • GC19M050616

Summaries for NLRP12 Gene

Entrez Gene Summary for NLRP12 Gene

  • 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]

GeneCards Summary for NLRP12 Gene

NLRP12 (NLR Family Pyrin Domain Containing 12) is a Protein Coding gene. Diseases associated with NLRP12 include Familial Cold Autoinflammatory Syndrome 2 and Familial Cold Autoinflammatory Syndrome. Among its related pathways are Nucleotide-binding Oligomerization Domain (NOD) pathway and NOD-like receptor signaling pathway. Gene Ontology (GO) annotations related to this gene include cysteine-type endopeptidase activator activity involved in apoptotic process. An important paralog of this gene is NLRP3.

UniProtKB/Swiss-Prot Summary for NLRP12 Gene

  • Plays an essential role as an potent mitigator of inflammation (PubMed:30559449). Primarily expressed in dendritic cells and macrophages, inhibits both canonical and non-canonical NF-kappa-B and ERK activation pathways (PubMed:15489334, PubMed:17947705). Functions as a negative regulator of NOD2 by targeting it to degradation via the proteasome pathway (PubMed:30559449). In turn, promotes bacterial tolerance (PubMed:30559449). Inhibits also the DDX58-mediated immune signaling against RNA viruses by reducing the E3 ubiquitin ligase TRIM25-mediated 'Lys-63'-linked DDX58 activation but enhancing the E3 ubiquitin ligase RNF125-mediated 'Lys-48'-linked DDX58 degradation (PubMed:30902577). Acts also as a negative regulator of inflammatory response to mitigate obesity and obesity-associated diseases in adipose tissue (By similarity).

Gene Wiki entry for NLRP12 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NLRP12 Gene

Genomics for NLRP12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NLRP12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J053823 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 250.7 +0.4 448 1.9 SPI1 NRF1 ATF4 CEBPG MAX CEBPB SMARCE1 HLF ATF3 CTBP1 NLRP12 HSALNG0127445 DPRX
GH19J053833 Promoter/Enhancer 0.9 EPDnew Ensembl ENCODE 250.4 -8.7 -8681 5.4 POLR2A piR-37656-113 NLRP12 piR-56399-022 MYADM HSALNG0127446
GH19J054199 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.9 -381.2 -381186 12.4 BCLAF1 SP1 ZNF207 ZNF600 NCOR1 MYC IKZF1 SSRP1 ZNF580 ZNF592 RPS9 HSALNG0127488 PRPF31 LENG8-AS1 LENG8 CNOT3 ZNF525 ENSG00000235681 ZNF845 ZNF761
GH19J054018 Enhancer 1.1 FANTOM5 ENCODE 10.3 -196.7 -196714 6.8 NCOR1 ZNF654 IKZF1 CEBPA CTCF REST CEBPB BHLHE40 ZEB1 MAX LILRB3 VSTM1 LILRA5 OSCAR MYADM LILRB2 NLRP12 LAIR1 CACNG8 LILRA6
GH19J053864 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 3.1 -44.5 -44511 9.8 SP1 MYC NCOR1 IKZF1 SSRP1 ZNF580 ZMYM3 KLF9 CEBPA ZNF10 MYADM MYADM-AS1 ZNF665 ENSG00000269001 ZNF845 PRPF31 ZNF765 ZNF816 LENG8 ENSG00000235681
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NLRP12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NLRP12

Top Transcription factor binding sites by QIAGEN in the NLRP12 gene promoter:
  • AML1a
  • Arnt
  • c-Myc
  • CUTL1
  • En-1
  • Max
  • STAT5A
  • STAT5B
  • USF-1
  • USF1

Genomic Locations for NLRP12 Gene

Latest Assembly
chr19:53,793,584-53,824,403
(GRCh38/hg38)
Size:
30,820 bases
Orientation:
Minus strand

Previous Assembly
chr19:54,296,838-54,327,657
(GRCh37/hg19 by Entrez Gene)
Size:
30,820 bases
Orientation:
Minus strand

chr19:54,296,857-54,327,648
(GRCh37/hg19 by Ensembl)
Size:
30,792 bases
Orientation:
Minus strand

Genomic View for NLRP12 Gene

Genes around NLRP12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NLRP12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NLRP12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NLRP12 Gene

Proteins for NLRP12 Gene

  • Protein details for NLRP12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P59046-NAL12_HUMAN
    Recommended name:
    NACHT, LRR and PYD domains-containing protein 12
    Protein Accession:
    P59046
    Secondary Accessions:
    • A8MTQ2
    • B3KTE7
    • Q8NEU4
    • Q9BY26

    Protein attributes for NLRP12 Gene

    Size:
    1061 amino acids
    Molecular mass:
    120173 Da
    Quaternary structure:
    • Interacts (via pyrin domain) with ASC. Interacts (via pyrin domain) with FAF1 (via UBA domain) (PubMed:21978668). Interacts with MAP3K14; this interaction promotes proteasomal degradation of MAP3K14 (PubMed:17237370). Interacts with NOD2; this interaction promotes degradation of NOD2 through the ubiquitin-proteasome pathway (PubMed:30559449). Interacts with HSPA1A and HSPA8 (PubMed:17947705). Interacts with HSP90AA1 (PubMed:17947705, PubMed:30559449). Interacts with TRIM25; this interaction inhibits DDX58-mediated signaling pathway (PubMed:30902577).

    Three dimensional structures from OCA and Proteopedia for NLRP12 Gene

    Alternative splice isoforms for NLRP12 Gene

neXtProt entry for NLRP12 Gene

Post-translational modifications for NLRP12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NLRP12 Gene

Domains & Families for NLRP12 Gene

Gene Families for NLRP12 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for NLRP12 Gene

InterPro:
Blocks:
  • Leucine-rich repeat signature
  • Leucine-rich repeat, ribonuclease inhibitor subtype
  • Pyrin domain

Suggested Antigen Peptide Sequences for NLRP12 Gene

GenScript: Design optimal peptide antigens:
  • Regulated by nitric oxide (NAL12_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P59046

UniProtKB/Swiss-Prot:

NAL12_HUMAN :
  • Belongs to the NLRP family.
Family:
  • Belongs to the NLRP family.
genes like me logo Genes that share domains with NLRP12: view

Function for NLRP12 Gene

Molecular function for NLRP12 Gene

UniProtKB/Swiss-Prot Function:
Plays an essential role as an potent mitigator of inflammation (PubMed:30559449). Primarily expressed in dendritic cells and macrophages, inhibits both canonical and non-canonical NF-kappa-B and ERK activation pathways (PubMed:15489334, PubMed:17947705). Functions as a negative regulator of NOD2 by targeting it to degradation via the proteasome pathway (PubMed:30559449). In turn, promotes bacterial tolerance (PubMed:30559449). Inhibits also the DDX58-mediated immune signaling against RNA viruses by reducing the E3 ubiquitin ligase TRIM25-mediated 'Lys-63'-linked DDX58 activation but enhancing the E3 ubiquitin ligase RNF125-mediated 'Lys-48'-linked DDX58 degradation (PubMed:30902577). Acts also as a negative regulator of inflammatory response to mitigate obesity and obesity-associated diseases in adipose tissue (By similarity).
UniProtKB/Swiss-Prot Induction:
By nitric oxide and DMSO in HL-60 cells, an acute myeloid leukemia cell line.

Phenotypes From GWAS Catalog for NLRP12 Gene

Gene Ontology (GO) - Molecular Function for NLRP12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IEA,IPI 12019269
GO:0005524 ATP binding IEA --
GO:0008656 cysteine-type endopeptidase activator activity involved in apoptotic process NAS 12019269
genes like me logo Genes that share ontologies with NLRP12: view
genes like me logo Genes that share phenotypes with NLRP12: view

Human Phenotype Ontology for NLRP12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NLRP12 Gene

MGI Knock Outs for NLRP12:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NLRP12

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NLRP12 Gene

Localization for NLRP12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NLRP12 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NLRP12 gene
Compartment Confidence
cytosol 4
nucleus 3
plasma membrane 2
extracellular 2
mitochondrion 2
lysosome 2
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NLRP12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 NOT nucleus IDA 12019269
GO:0005737 cytoplasm IEA,IDA 12019269
genes like me logo Genes that share ontologies with NLRP12: view

Pathways & Interactions for NLRP12 Gene

genes like me logo Genes that share pathways with NLRP12: view

Pathways by source for NLRP12 Gene

1 BioSystems pathway for NLRP12 Gene
1 KEGG pathway for NLRP12 Gene
1 R&D Systems pathway for NLRP12 Gene

Gene Ontology (GO) - Biological Process for NLRP12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001818 negative regulation of cytokine production IDA 16203735
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process NAS 12019269
GO:0007165 signal transduction NAS 12019269
GO:0009968 negative regulation of signal transduction IDA 16203735
GO:0031953 negative regulation of protein autophosphorylation IDA 16203735
genes like me logo Genes that share ontologies with NLRP12: view

No data available for SIGNOR curated interactions for NLRP12 Gene

Drugs & Compounds for NLRP12 Gene

(6) Drugs for NLRP12 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for NLRP12 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NLRP12: view

Transcripts for NLRP12 Gene

mRNA/cDNA for NLRP12 Gene

4 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NLRP12

Alternative Splicing Database (ASD) splice patterns (SP) for NLRP12 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
SP1:
SP2:
SP3: -
SP4: - -

Relevant External Links for NLRP12 Gene

GeneLoc Exon Structure for
NLRP12

Expression for NLRP12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NLRP12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NLRP12 Gene

This gene is overexpressed in Whole Blood (x47.4).

Protein differential expression in normal tissues from HIPED for NLRP12 Gene

This gene is overexpressed in Testis (66.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NLRP12 Gene



Protein tissue co-expression partners for NLRP12 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NLRP12

SOURCE GeneReport for Unigene cluster for NLRP12 Gene:

Hs.631573

mRNA Expression by UniProt/SwissProt for NLRP12 Gene:

P59046-NAL12_HUMAN
Tissue specificity: Detected only in peripheral blood leukocytes, predominantly in eosinophils and granulocytes, and at lower levels in monocytes.

Evidence on tissue expression from TISSUES for NLRP12 Gene

  • Lung(5)
  • Blood(4.4)
  • Kidney(2.3)
  • Liver(2.3)
  • Intestine(2.2)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NLRP12 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • head
  • meninges
  • mouth
  • neck
Abdomen:
  • liver
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with NLRP12: view

Primer products for research

Orthologs for NLRP12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NLRP12 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NLRP12 29 30
  • 99.12 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NLRP12 29
  • 83.02 (n)
-- 30
  • 82 (a)
OneToMany
-- 30
  • 80 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia NLRP12 29 30
  • 80.66 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nlrp12 29
  • 77.51 (n)
Mouse
(Mus musculus)
Mammalia Nlrp12 29 16 30
  • 76.31 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NLRP12 30
  • 64 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia NLRP12 30
  • 53 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 30
  • 34 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 34 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii si:ch211-66k16.2 30
  • 27 (a)
ManyToMany
CU693495.1 30
  • 24 (a)
ManyToMany
nlrb5 30
  • 24 (a)
ManyToMany
CABZ01071909.1 30
  • 18 (a)
ManyToMany
si:ch211-66k16.28 30
  • 17 (a)
ManyToMany
CABZ01068060.1 30
  • 16 (a)
ManyToMany
Species where no ortholog for NLRP12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for NLRP12 Gene

ENSEMBL:
Gene Tree for NLRP12 (if available)
TreeFam:
Gene Tree for NLRP12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NLRP12: view image
Alliance of Genome Resources:
Additional Orthologs for NLRP12

Paralogs for NLRP12 Gene

(14) SIMAP similar genes for NLRP12 Gene using alignment to 5 proteins:

  • NAL12_HUMAN
  • A8MTQ2_HUMAN
  • C9JK73_HUMAN
  • C9JZX9_HUMAN
  • F5H0E4_HUMAN
genes like me logo Genes that share paralogs with NLRP12: view

Variants for NLRP12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NLRP12 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
1000030 Uncertain Significance: Familial cold autoinflammatory syndrome 2 53,810,508(-) G/A
NM_144687.4(NLRP12):c.1151C>T (p.Ala384Val)
MISSENSE
1000903 Uncertain Significance: Familial cold autoinflammatory syndrome 2 53,811,120(-) C/T
NM_144687.4(NLRP12):c.539G>A (p.Gly180Asp)
MISSENSE
1002545 Uncertain Significance: Familial cold autoinflammatory syndrome 2 53,810,954(-) C/T
NM_144687.4(NLRP12):c.705G>A (p.Ala235=)
SYNONYMOUS
1005043 Uncertain Significance: Familial cold autoinflammatory syndrome 2 53,810,395(-) C/T
NM_144687.4(NLRP12):c.1264G>A (p.Gly422Arg)
MISSENSE
1005116 Uncertain Significance: Familial cold autoinflammatory syndrome 2 53,810,816(-) C/G
NM_144687.4(NLRP12):c.843G>C (p.Glu281Asp)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NLRP12 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NLRP12 Gene

Variant ID Type Subtype PubMed ID
esv1103808 CNV insertion 17803354
esv2666040 CNV deletion 23128226
esv2718812 CNV deletion 23290073
esv3556599 CNV deletion 23714750
esv3644773 CNV loss 21293372
nsv1058969 CNV gain 25217958
nsv1064558 CNV gain 25217958
nsv1114031 CNV deletion 24896259
nsv1116347 CNV deletion 24896259
nsv458781 CNV gain 19166990
nsv580108 CNV gain 21841781

Variation tolerance for NLRP12 Gene

Residual Variation Intolerance Score: 69.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.08; 92.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NLRP12 Gene

Human Gene Mutation Database (HGMD)
NLRP12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NLRP12
Leiden Open Variation Database (LOVD)
NLRP12

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NLRP12 Gene

Disorders for NLRP12 Gene

MalaCards: The human disease database

(17) MalaCards diseases for NLRP12 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NAL12_HUMAN
  • Familial cold autoinflammatory syndrome 2 (FCAS2) [MIM:611762]: A rare autosomal dominant systemic inflammatory disease characterized by recurrent episodes of maculopapular rash associated with arthralgias, myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure to cold. {ECO:0000269 PubMed:18230725}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for NLRP12

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NLRP12: view

No data available for Genatlas for NLRP12 Gene

Publications for NLRP12 Gene

  1. Mutations in NALP12 cause hereditary periodic fever syndromes. (PMID: 18230725) Jéru I … Amselem S (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 4 72
  2. NALPs: a novel protein family involved in inflammation. (PMID: 12563287) Tschopp J … Burns K (Nature reviews. Molecular cell biology 2003) 2 3 4
  3. PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing. (PMID: 12019269) Wang L … Bertin J (The Journal of biological chemistry 2002) 2 3 4
  4. NLRP12 Regulates Anti-viral RIG-I Activation via Interaction with TRIM25. (PMID: 30902577) Chen ST … Ting JP (Cell host & microbe 2019) 3 4
  5. Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing. (PMID: 27314497) Xia X … Wang L (PloS one 2016) 3 72

Products for NLRP12 Gene

Sources for NLRP12 Gene