Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NLRP12 Gene

Aliases for NLRP12 Gene

  • NLR Family, Pyrin Domain Containing 12 2 3
  • NALP12 3 4 6
  • PYPAF7 3 4 6
  • RNO 3 4 6
  • PYRIN-Containing APAF1-Like Protein 7 3 4
  • Regulated By Nitric Oxide 3 4
  • FCAS2 3 6
  • Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin Domain Containing 12 3
  • Leucine Rich Repeat And Pyrin Domain Containing 12 2
  • NACHT, Leucine Rich Repeat And PYD Containing 12 2
  • NACHT, LRR And PYD Domains-Containing Protein 12 3
  • Nucleotide-Binding Oligomerization Domain 2
  • Monarch 1 3
  • Monarch-1 4
  • CLR19.3 3
  • PAN6 3
  • RNO2 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 nlrp12-associated hereditary periodic fever syndrome. Among its related pathways are NOD-like Receptor Signaling Pathways and Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways. GO annotations related to this gene include cysteine-type endopeptidase activator activity involved in apoptotic process. An important paralog of this gene is NLRC3.

UniProtKB/Swiss-Prot for NLRP12 Gene

  • May mediate activation of CASP1 via ASC and promote activation of NF-kappa-B via IKK

Gene Wiki entry for NLRP12 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NLRP12 Gene

Genomics for NLRP12 Gene

Regulatory Elements for NLRP12 Gene

Genomic Location for NLRP12 Gene

Start:
53,793,584 bp from pter
End:
53,824,403 bp from pter
Size:
30,820 bases
Orientation:
Minus strand

Genomic View for NLRP12 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    • Binds to ASC with its DAPIN domain. Interacts with FAF1 UBA domain via its DAPIN domain.

    Three dimensional structures from OCA and Proteopedia for NLRP12 Gene

    Alternative splice isoforms for NLRP12 Gene

neXtProt entry for NLRP12 Gene

Proteomics data for NLRP12 Gene at MOPED

Post-translational modifications for NLRP12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NLRP12 Gene

No data available for DME Specific Peptides for NLRP12 Gene

Domains for NLRP12 Gene

Gene Families for NLRP12 Gene

HGNC:
  • NLR :Nucleotide-binding domain and leucine rich repeat containing
IUPHAR :

Suggested Antigen Peptide Sequences for NLRP12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P59046

UniProtKB/Swiss-Prot:

NAL12_HUMAN :
  • P59046
Domain:
  • Contains 1 DAPIN domain.
  • Contains 1 NACHT domain.
Family:
  • Belongs to the NLRP family.
Similarity:
  • Contains 8 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with NLRP12: view

Function for NLRP12 Gene

Molecular function for NLRP12 Gene

UniProtKB/Swiss-Prot Function: May mediate activation of CASP1 via ASC and promote activation of NF-kappa-B via IKK
UniProtKB/Swiss-Prot Induction: By nitric oxide and DMSO in HL-60 cells, an acute myeloid leukemia cell line.

Gene Ontology (GO) - Molecular Function for NLRP12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding 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

Animal Models for NLRP12 Gene

MGI Knock Outs for NLRP12:

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

Localization for NLRP12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NLRP12 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NLRP12 Gene COMPARTMENTS Subcellular localization image for NLRP12 gene
Compartment Confidence
cytosol 3
nucleus 2
mitochondrion 1
peroxisome 1
plasma membrane 1

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 IDA 12019269
genes like me logo Genes that share ontologies with NLRP12: view

Pathways 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 R&D Systems pathway for NLRP12 Gene

Gene Ontology (GO) - Biological Process for NLRP12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process NAS 12019269
GO:0007165 signal transduction NAS 12019269
GO:0008588 release of cytoplasmic sequestered NF-kappaB IDA 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

Compounds for NLRP12 Gene

(8) Novoseek inferred chemical compound relationships for NLRP12 Gene

Compound -log(P) Hits PubMed IDs
proline 61.9 16
leucine 45.6 11
cysteine 34.1 2
glycosaminoglycan 17.7 1
estrogen 0 3
genes like me logo Genes that share compounds with NLRP12: view

Transcripts for NLRP12 Gene

Unigene Clusters for NLRP12 Gene

NLR family, pyrin domain containing 12:
Representative Sequences:

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
ECgene alternative splicing isoforms for
NLRP12

Expression for NLRP12 Gene

mRNA expression in normal human tissues 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 (47.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for NLRP12 Gene

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.
genes like me logo Genes that share expressions with NLRP12: view

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 35
  • 99.12 (n)
  • 98.58 (a)
NLRP12 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NLRP12 35
  • 80.66 (n)
  • 77.96 (a)
NLRP12 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 36
  • 80 (a)
OneToMany
-- 36
  • 82 (a)
OneToMany
NLRP12 35
  • 83.02 (n)
  • 80.57 (a)
mouse
(Mus musculus)
Mammalia Nlrp12 35
  • 76.31 (n)
  • 73.06 (a)
Nlrp12 16
Nlrp12 36
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NLRP12 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NLRP12 36
  • 53 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nlrp12 35
  • 77.51 (n)
  • 75.24 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 34 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 34 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii CABZ01068060.1 36
  • 16 (a)
ManyToMany
CABZ01071909.1 36
  • 18 (a)
ManyToMany
CU693495.1 36
  • 24 (a)
ManyToMany
nlrb5 36
  • 24 (a)
ManyToMany
si:ch211-66k16.2 36
  • 27 (a)
ManyToMany
si:ch211-66k16.28 36
  • 17 (a)
ManyToMany
Species with no ortholog for NLRP12:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for NLRP12 Gene

Paralogs for NLRP12 Gene

Selected SIMAP similar genes for NLRP12 Gene using alignment to 5 proteins:

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

Variants for NLRP12 Gene

Sequence variations from dbSNP and Humsavar for NLRP12 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs744759 -- 53,808,876(+) cagta(C/G)tatta intron-variant
rs889163 -- 53,808,851(+) ttccc(A/G)gcctt intron-variant
rs889164 -- 53,808,952(+) acccc(C/T)agctg intron-variant
rs2012491 -- 53,809,047(+) ACAGC(A/G)AAACC intron-variant
rs2042293 -- 53,795,653(+) atagg(C/T)gtgag intron-variant

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

Variant ID Type Subtype PubMed ID
esv2718812 CNV Deletion 23290073
dgv3999n71 CNV Gain 21882294
nsv458781 CNV Gain 19166990
nsv912388 CNV Gain 21882294
esv2666040 CNV Deletion 23128226
esv1103808 CNV Insertion 17803354

Relevant External Links for NLRP12 Gene

HapMap Linkage Disequilibrium report
NLRP12
Human Gene Mutation Database (HGMD)
NLRP12

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

Disorders for NLRP12 Gene

(1) OMIM Diseases for NLRP12 Gene (609648)

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 mutations affecting the gene represented in this entry.

(4) Novoseek inferred disease relationships for NLRP12 Gene

Disease -log(P) Hits PubMed IDs
csnb1 74.8 1
collagen fibril 61.2 1
night blindness, congenital stationary 59.2 1
tumors 4.77 1

Relevant External Links for NLRP12

Genetic Association Database (GAD)
NLRP12
Human Genome Epidemiology (HuGE) Navigator
NLRP12
genes like me logo Genes that share disorders with NLRP12: view

Publications for NLRP12 Gene

  1. 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. (J. Biol. Chem. 2002) 2 3 4
  2. NALPs: a novel protein family involved in inflammation. (PMID: 12563287) Tschopp J. … Burns K. (Nat. Rev. Mol. Cell Biol. 2003) 2 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. ATP binding by monarch-1/NLRP12 is critical for its inhibitory function. (PMID: 18160710) Ye Z. … Ting J.P. (Mol. Cell. Biol. 2008) 3 4

Products for NLRP12 Gene

Sources for NLRP12 Gene

Back to Top

Content