This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. A... See more...

Aliases for NLRP13 Gene

Aliases for NLRP13 Gene

  • NLR Family Pyrin Domain Containing 13 2 3 5
  • Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin Domain Containing 13 2 3
  • Nucleotide-Binding Oligomerization Domain Protein 14 3 4
  • NACHT, LRR And PYD Domains-Containing Protein 13 3 4
  • NACHT, Leucine Rich Repeat And PYD Containing 13 2 3
  • NALP13 3 4
  • NOD14 3 4
  • NACHT, LRR And PYD Containing Protein 13 3
  • CLR19.7 3
  • PAN13 3

External Ids for NLRP13 Gene

Previous HGNC Symbols for NLRP13 Gene

  • NALP13

Previous GeneCards Identifiers for NLRP13 Gene

  • GC19M061100
  • GC19M056407
  • GC19M052718

Summaries for NLRP13 Gene

Entrez Gene Summary for NLRP13 Gene

  • This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]

GeneCards Summary for NLRP13 Gene

NLRP13 (NLR Family Pyrin Domain Containing 13) is a Protein Coding gene. Diseases associated with NLRP13 include Gestational Trophoblastic Neoplasm. An important paralog of this gene is NLRP14.

UniProtKB/Swiss-Prot Summary for NLRP13 Gene

Gene Wiki entry for NLRP13 Gene

Additional gene information for NLRP13 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NLRP13 Gene

Genomics for NLRP13 Gene

GeneHancer (GH) Regulatory Elements for NLRP13 Gene

Promoters and enhancers for NLRP13 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
GH19J056293 Promoter/Enhancer 1.2 FANTOM5 Ensembl ENCODE 1.9 -363.0 -362963 2.7 ZBTB40 ZNF316 NFIC MAFF MAFK NFIB ZFP36 NLRP5 ZSCAN5A NLRP11 NLRP8 ZNF583 NLRP13 RF00017-3086 LOC105372470 lnc-ZNF582-5 lnc-EDDM13-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NLRP13 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NLRP13

Genomic Locations for NLRP13 Gene

Genomic Locations for NLRP13 Gene
chr19:55,891,692-55,932,336
(GRCh38/hg38)
Size:
40,645 bases
Orientation:
Minus strand
chr19:56,403,065-56,443,702
(GRCh37/hg19)
Size:
40,638 bases
Orientation:
Minus strand

Genomic View for NLRP13 Gene

Genes around NLRP13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NLRP13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NLRP13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NLRP13 Gene

Proteins for NLRP13 Gene

  • Protein details for NLRP13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86W25-NAL13_HUMAN
    Recommended name:
    NACHT, LRR and PYD domains-containing protein 13
    Protein Accession:
    Q86W25
    Secondary Accessions:
    • Q7RTR5

    Protein attributes for NLRP13 Gene

    Size:
    1043 amino acids
    Molecular mass:
    118884 Da
    Quaternary structure:
    No Data Available

neXtProt entry for NLRP13 Gene

Post-translational modifications for NLRP13 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NLRP13 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NLRP13 Gene

Domains & Families for NLRP13 Gene

Gene Families for NLRP13 Gene

Protein Domains for NLRP13 Gene

Suggested Antigen Peptide Sequences for NLRP13 Gene

GenScript: Design optimal peptide antigens:
  • Nucleotide-binding oligomerization domain protein 14 (NAL13_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86W25

UniProtKB/Swiss-Prot:

NAL13_HUMAN :
  • Belongs to the NLRP family.
Family:
  • Belongs to the NLRP family.
genes like me logo Genes that share domains with NLRP13: view

Function for NLRP13 Gene

Molecular function for NLRP13 Gene

UniProtKB/Swiss-Prot Function:
Involved in inflammation.

Phenotypes From GWAS Catalog for NLRP13 Gene

Gene Ontology (GO) - Molecular Function for NLRP13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with NLRP13: view
genes like me logo Genes that share phenotypes with NLRP13: view

miRNA for NLRP13 Gene

miRTarBase miRNAs that target NLRP13

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NLRP13 Gene

Localization for NLRP13 Gene

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 NLRP13 gene
Compartment Confidence
cytosol 3
plasma membrane 1
extracellular 1
nucleus 1
endosome 1
peroxisome 0

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for NLRP13 Gene

Pathways & Interactions for NLRP13 Gene

PathCards logo

SuperPathways for NLRP13 Gene

No Data Available

Interacting Proteins for NLRP13 Gene

;

Gene Ontology (GO) - Biological Process for NLRP13 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for NLRP13 Gene

Drugs & Compounds for NLRP13 Gene

No Compound Related Data Available

Transcripts for NLRP13 Gene

mRNA/cDNA for NLRP13 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NLRP13 Gene

No ASD Table

Relevant External Links for NLRP13 Gene

GeneLoc Exon Structure for
NLRP13

Expression for NLRP13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NLRP13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NLRP13 Gene

This gene is overexpressed in Breast - Mammary Tissue (x29.0), Ovary (x9.6), Testis (x5.6), and Prostate (x5.3).

Protein differential expression in normal tissues from HIPED for NLRP13 Gene

This gene is overexpressed in Colon (37.9) and Gallbladder (18.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NLRP13 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NLRP13

SOURCE GeneReport for Unigene cluster for NLRP13 Gene:

Hs.446924
genes like me logo Genes that share expression patterns with NLRP13: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for NLRP13 Gene

Orthologs for NLRP13 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NLRP13 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NLRP13 31 30
  • 99.49 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NLRP13 31 30
  • 74.8 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NLRP13 31 30
  • 60.82 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 30 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 29 (a)
OneToMany
Species where no ortholog for NLRP13 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)
  • chicken (Gallus gallus)
  • 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)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • zebrafish (Danio rerio)

Evolution for NLRP13 Gene

ENSEMBL:
Gene Tree for NLRP13 (if available)
TreeFam:
Gene Tree for NLRP13 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NLRP13: view image

Paralogs for NLRP13 Gene

(11) SIMAP similar genes for NLRP13 Gene using alignment to 1 proteins:

  • NAL13_HUMAN
genes like me logo Genes that share paralogs with NLRP13: view

Variants for NLRP13 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NLRP13 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
786965 Benign: not provided 55,912,213(-) G/A MISSENSE_VARIANT
rs199475874 Not Provided: not provided 55,923,967(-) G/A MISSENSE_VARIANT
rs199475875 Likely Benign: not provided 55,912,287(-) C/T SYNONYMOUS_VARIANT
rs199475876 Not Provided: not provided 55,911,780(-) C/A MISSENSE_VARIANT
rs199475877 Not Provided: not provided 55,902,174(-) A/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for NLRP13 Gene

Structural Variations from Database of Genomic Variants (DGV) for NLRP13 Gene

Variant ID Type Subtype PubMed ID
dgv3680n100 CNV gain 25217958
dgv3681n100 CNV gain 25217958
dgv6582n54 CNV gain 21841781
esv3575086 CNV gain 25503493
esv3644849 CNV gain 21293372
esv3644851 CNV gain 21293372
esv3644852 CNV gain 21293372
nsv1057383 CNV gain 25217958
nsv1064105 CNV gain 25217958
nsv1067116 CNV gain 25217958
nsv1110333 CNV duplication 24896259
nsv1138730 CNV deletion 24896259
nsv510927 OTHER complex 20534489
nsv580351 CNV gain 21841781

Variation tolerance for NLRP13 Gene

Residual Variation Intolerance Score: 89.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.38; 63.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NLRP13 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NLRP13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NLRP13 Gene

Disorders for NLRP13 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NLRP13 Gene - From: DISEASES

Disorder Aliases PubMed IDs
gestational trophoblastic neoplasm
  • hydatidiform mole, recurrent, 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NLRP13

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NLRP13: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NLRP13 Gene

Publications for NLRP13 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 54
  2. The genetics of NOD-like receptors in Crohn's disease. (PMID: 20403135) Cummings JR … Jewell DP (Tissue antigens 2010) 3 41 54
  3. Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia. (PMID: 19074885) Enjuanes A … Campo E (Cancer research 2008) 3 41 54
  4. NODs: intracellular proteins involved in inflammation and apoptosis. (PMID: 12766759) Inohara N … Nuñez G (Nature reviews. Immunology 2003) 3 4 54
  5. What do we know about the inflammasome in humans? (PMID: 27997042) Amin J … Rakic S (Brain pathology (Zurich, Switzerland) 2017) 3 54

Products for NLRP13 Gene

Sources for NLRP13 Gene