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Aliases for NLRP12 Gene

Aliases for NLRP12 Gene

  • NLR Family Pyrin Domain Containing 12 2 3 5
  • Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin Domain Containing 12 2 3
  • PYRIN-Containing APAF1-Like Protein 7 3 4
  • Regulated By Nitric Oxide 3 4
  • PYPAF7 3 4
  • NALP12 3 4
  • RNO 3 4
  • NACHT, Leucine Rich Repeat And PYD Containing 12 2
  • NACHT, LRR And PYD Domains-Containing Protein 12 3
  • Monarch 1 3
  • Monarch-1 4
  • CLR19.3 3
  • FCAS2 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 Familial Cold Autoinflammatory Syndrome. Among its related pathways are Nucleotide-binding Oligomerization Domain (NOD) pathway and Toll-Like receptor 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 NLRP3.

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

Additional gene information for NLRP12 Gene

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

Genomics for NLRP12 Gene

Regulatory Elements for NLRP12 Gene

Enhancers for NLRP12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H054199 1.9 FANTOM5 ENCODE dbSUPER 9.9 -381.3 -381308 12 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D PRPF31 CNOT3 LENG8 LENG8-AS1 ZNF525 LILRB5 ZNF845 ZNF765 ENSG00000235681 RPS9
GH19H054018 1.6 FANTOM5 Ensembl ENCODE 10.3 -196.7 -196715 6 PKNOX1 FOXA2 ATF1 ARID4B SIN3A TCF12 GTF3C2 ZNF302 ZNF143 ATF7 CNOT3 LILRB3 ZNF845 ZNF525 ENSG00000235681 ENSG00000267265 LENG8-AS1 LENG8 ENSG00000269288 ZNF415
GH19H053851 1.2 FANTOM5 Ensembl ENCODE 6.6 -27.4 -27438 1 NFIC NFIA POLR2A NFIB MAX MYC ENSG00000232220 PRKCG CACNG6 MIR935 MYADM VSTM1 LILRA5 OSCAR NLRP12 LILRB2
GH19H054270 1.3 FANTOM5 Ensembl ENCODE dbSUPER 4.4 -447.5 -447498 2 ZNF316 NFE2 LAIR1 LILRB2 OSCAR MYADM LILRB3 LILRB1 LILRA5 VSTM1 LILRB4 NLRP12
GH19H054282 1.3 FANTOM5 Ensembl ENCODE dbSUPER 4.3 -458.5 -458547 1 KLF1 POLR2A IKZF1 LILRB3 LAIR1 LILRA6 LILRB5 ENSG00000249189 OSCAR MYADM LILRB2 VSTM1 LILRB1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NLRP12 on UCSC Golden Path with GeneCards custom track

Genomic Location for NLRP12 Gene

Chromosome:
19
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

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:
    • Binds to ASC with its pyrin domain. Interacts with FAF1 UBA domain via its pyrin domain.

    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

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 :
  • 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:
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.

Phenotypes From GWAS Catalog for NLRP12 Gene

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

Human Phenotype Ontology for NLRP12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NLRP12 Gene

MGI Knock Outs for NLRP12:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NLRP12
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 2
plasma membrane 1
mitochondrion 1
peroxisome 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,IEA 12019269
genes like me logo Genes that share ontologies with NLRP12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NLRP12 Gene

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: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

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

Unigene Clusters for NLRP12 Gene

NLR family, pyrin domain containing 12:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NLRP12
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for NLRP12 Gene



Protein tissue co-expression partners for NLRP12 Gene

NURSA nuclear receptor signaling pathways regulating expression of NLRP12 Gene:

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(4.3)
  • Kidney(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
Organs:
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

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 33 34
  • 99.12 (n)
dog
(Canis familiaris)
Mammalia NLRP12 33
  • 83.02 (n)
-- 34
  • 82 (a)
OneToMany
-- 34
  • 80 (a)
OneToMany
cow
(Bos Taurus)
Mammalia NLRP12 33 34
  • 80.66 (n)
rat
(Rattus norvegicus)
Mammalia Nlrp12 33
  • 77.51 (n)
mouse
(Mus musculus)
Mammalia Nlrp12 33 16 34
  • 76.31 (n)
oppossum
(Monodelphis domestica)
Mammalia NLRP12 34
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NLRP12 34
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 34 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 34 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii si:ch211-66k16.2 34
  • 27 (a)
ManyToMany
nlrb5 34
  • 24 (a)
ManyToMany
CU693495.1 34
  • 24 (a)
ManyToMany
CABZ01071909.1 34
  • 18 (a)
ManyToMany
si:ch211-66k16.28 34
  • 17 (a)
ManyToMany
CABZ01068060.1 34
  • 16 (a)
ManyToMany
Species where no ortholog for NLRP12 was found in the sources mined by GeneCards:
  • 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

(14) 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
rs104895564 Pathogenic 53,810,809(-) TCATC(C/T)GAGTT reference, stop-gained
rs104895565 Pathogenic 53,809,584(-) GCTGT(-/T/TT)AAGTA splice-donor-variant
rs145171629 Likely pathogenic 53,810,801(+) CGCTC(A/C/G)GGAAC reference, synonymous-codon
rs112227599 Likely benign 53,824,230(+) ATGCA(C/T)GGGAC upstream-variant-2KB, utr-variant-5-prime
rs116411892 Likely benign 53,793,846(+) TCTCG(A/G)AGTGC downstream-variant-500B, utr-variant-3-prime

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)

Relevant External Links for NLRP12 Gene

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

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

Disorders for NLRP12 Gene

MalaCards: The human disease database

(9) MalaCards diseases for NLRP12 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
familial cold autoinflammatory syndrome 2
  • nlrp12-associated hereditary periodic fever syndrome
familial cold autoinflammatory syndrome
  • familial cold urticaria
pyometritis
x-linked congenital stationary night blindness
  • congenital stationary night blindness with myopia
night blindness, congenital stationary , 1e, autosomal recessive
  • congenital stationary night blindness 1e
- 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 mutations affecting the gene represented in this entry.

Relevant External Links for NLRP12

Genetic Association Database (GAD)
NLRP12
Human Genome Epidemiology (HuGE) Navigator
NLRP12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NLRP12
genes like me logo Genes that share disorders with NLRP12: view

No data available for Genatlas for NLRP12 Gene

Publications for NLRP12 Gene

  1. NALPs: a novel protein family involved in inflammation. (PMID: 12563287) Tschopp J … Burns K (Nature reviews. Molecular cell biology 2003) 2 3 4 60
  2. 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 60
  3. The NLRP12 pyrin domain: structure, dynamics, and functional insights. (PMID: 21978668) Pinheiro AS … Peti W (Journal of molecular biology 2011) 3 4 60
  4. The genetics of NOD-like receptors in Crohn's disease. (PMID: 20403135) Cummings JR … Jewell DP (Tissue antigens 2010) 3 45 60
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60

Products for NLRP12 Gene

Sources for NLRP12 Gene

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