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Aliases for NLRC4 Gene

Aliases for NLRC4 Gene

  • NLR Family, CARD Domain Containing 4 2 3
  • CARD12 3 4 6
  • CLAN 3 4 6
  • IPAF 3 4 6
  • Caspase Recruitment Domain-Containing Protein 12 3 4
  • Caspase Recruitment Domain Family, Member 12 2 3
  • CARD, LRR, And NACHT-Containing Protein 3 4
  • NOD-Like Receptor C4 2 3
  • CLAN1 3 4
  • Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And CARD Domain Containing 4 3
  • Leucine Rich Repeat And CARD Domain Containing 4 2
  • NLR Family CARD Domain-Containing Protein 4 3
  • Nucleotide-Binding Oligomerization Domain 2
  • ICE-Protease Activating Factor 3
  • Ice Protease-Activating Factor 4
  • Clan Protein 4
  • CLR2.1 3
  • AIFEC 3
  • CLANA 3
  • CLANB 3
  • CLANC 3
  • CLAND 3
  • FCAS4 3

External Ids for NLRC4 Gene

Previous HGNC Symbols for NLRC4 Gene

  • CARD12

Previous GeneCards Identifiers for NLRC4 Gene

  • GC02M032303
  • GC02M032449
  • GC02M032188

Summaries for NLRC4 Gene

Entrez Gene Summary for NLRC4 Gene

  • This gene encodes a member of the caspase recruitment domain-containing NLR family. Family members play essential roles in innate immune response to a wide range of pathogenic organisms, tissue damage and other cellular stresses. Mutations in this gene result in autoinflammation with infantile enterocolitis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

GeneCards Summary for NLRC4 Gene

NLRC4 (NLR Family, CARD Domain Containing 4) is a Protein Coding gene. Diseases associated with NLRC4 include autoinflammation with infantile enterocolitis and familial cold autoinflammatory syndrome 4. Among its related pathways are Salmonella infection (KEGG) and Direct p53 effectors. GO annotations related to this gene include protein homodimerization activity and magnesium ion binding. An important paralog of this gene is XIAP.

UniProtKB/Swiss-Prot for NLRC4 Gene

  • Key component of inflammasomes that indirectly senses specific proteins from pathogenic bacteria and fungi and responds by assembling an inflammasome complex that promotes caspase-1 activation, cytokine production and macrophage pyroptosis.

Gene Wiki entry for NLRC4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NLRC4 Gene

Genomics for NLRC4 Gene

Genomic Location for NLRC4 Gene

Start:
32,224,449 bp from pter
End:
32,265,854 bp from pter
Size:
41,406 bases
Orientation:
Minus strand

Genomic View for NLRC4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NLRC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NLRC4 Gene

Proteins for NLRC4 Gene

  • Protein details for NLRC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NPP4-NLRC4_HUMAN
    Recommended name:
    NLR family CARD domain-containing protein 4
    Protein Accession:
    Q9NPP4
    Secondary Accessions:
    • A8K9F8
    • B2RBQ3
    • B3KTF0
    • D6W580
    • Q96J81
    • Q96J82
    • Q96J83

    Protein attributes for NLRC4 Gene

    Size:
    1024 amino acids
    Molecular mass:
    116159 Da
    Quaternary structure:
    • Component of the NLRC4 inflammasome (By similarity). Homooligomer. Interacts with ASC, pro-caspase-1, NOD2, BCL10 and NALP1 (NAC) by CARD-CARD interaction. Interacts with EIF2AK2/PKR.

    Alternative splice isoforms for NLRC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NLRC4 Gene

Proteomics data for NLRC4 Gene at MOPED

Post-translational modifications for NLRC4 Gene

  • Phosphorylated at Ser-533 following infection of macrophages with S.typhimurium (Salmonella). Phosphorylation is essential for NLRC4 inflammasome function to promote caspase-1 activation and pyroptosis. PRKCD phosphorylates Ser-533 in vitro (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NLRC4 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NLRC4 (NLRC4)

No data available for DME Specific Peptides for NLRC4 Gene

Domains for NLRC4 Gene

Gene Families for NLRC4 Gene

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

Protein Domains for NLRC4 Gene

Suggested Antigen Peptide Sequences for NLRC4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NPP4

UniProtKB/Swiss-Prot:

NLRC4_HUMAN :
  • Q9NPP4
Domain:
  • In an autoinhibited form the C-terminal leucine-rich repeat (LRR) domain is positioned to sterically occlude one side of the NBD domain and consequently sequester NLRC4 in a monomeric state. An ADP-mediated interaction between the NBD and the WHD also contributes to the autoinhibition (By similarity).
  • Contains 1 CARD domain.
  • Contains 1 NACHT domain.
Similarity:
  • Contains 12 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with NLRC4: view

Function for NLRC4 Gene

Molecular function for NLRC4 Gene

UniProtKB/Swiss-Prot Function:
Key component of inflammasomes that indirectly senses specific proteins from pathogenic bacteria and fungi and responds by assembling an inflammasome complex that promotes caspase-1 activation, cytokine production and macrophage pyroptosis.

Gene Ontology (GO) - Molecular Function for NLRC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding TAS 15882992
GO:0004842 ubiquitin-protein transferase activity IBA --
GO:0004869 cysteine-type endopeptidase inhibitor activity IBA --
GO:0005515 protein binding IPI 11374873
GO:0005524 ATP binding IDA 15882992
genes like me logo Genes that share ontologies with NLRC4: view

Phenotypes for NLRC4 Gene

genes like me logo Genes that share phenotypes with NLRC4: view

Animal Models for NLRC4 Gene

MGI Knock Outs for NLRC4:

Animal Model Products

miRNA for NLRC4 Gene

miRTarBase miRNAs that target NLRC4

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NLRC4

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for NLRC4 Gene

Localization for NLRC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NLRC4 Gene

Cytoplasm. Cytoplasm, cytosol. Note=Cytoplasmic filaments.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NLRC4 Gene COMPARTMENTS Subcellular localization image for NLRC4 gene
Compartment Confidence
cytosol 4
nucleus 2
vacuole 2
lysosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for NLRC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular NAS 15107016
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
GO:0005876 spindle microtubule IBA --
genes like me logo Genes that share ontologies with NLRC4: view

Pathways for NLRC4 Gene

genes like me logo Genes that share pathways with NLRC4: view

Pathways by source for NLRC4 Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for NLRC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002218 activation of innate immune response ISS --
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IDA 15030775
GO:0006954 inflammatory response ISS --
GO:0009966 regulation of signal transduction IBA --
GO:0016045 detection of bacterium IDA 15107016
genes like me logo Genes that share ontologies with NLRC4: view

Compounds for NLRC4 Gene

(1) Novoseek inferred chemical compound relationships for NLRC4 Gene

Compound -log(P) Hits PubMed IDs
peptidoglycan 64.1 2
genes like me logo Genes that share compounds with NLRC4: view

Transcripts for NLRC4 Gene

Unigene Clusters for NLRC4 Gene

NLR family, CARD domain containing 4:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NLRC4

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NLRC4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: -
SP2:
SP3: - -

Relevant External Links for NLRC4 Gene

GeneLoc Exon Structure for
NLRC4
ECgene alternative splicing isoforms for
NLRC4

Expression for NLRC4 Gene

mRNA expression in normal human tissues for NLRC4 Gene

mRNA differential expression in normal tissues according to GTEx for NLRC4 Gene

This gene is overexpressed in Whole Blood (35.9).

Protein differential expression in normal tissues for NLRC4 Gene

This gene is overexpressed in Cervix (25.9), Neutrophil (14.2), and Monocytes (10.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for NLRC4 Gene

SOURCE GeneReport for Unigene cluster for NLRC4 Gene Hs.574741

mRNA Expression by UniProt/SwissProt for NLRC4 Gene

Q9NPP4-NLRC4_HUMAN
Tissue specificity: Isoform 2 is expressed ubiquitously, although highly expressed in lung and spleen. Isoform 1 is highly expressed in lung, followed by leukocytes especially monocytes, lymph node, colon, brain, prostate, placenta, spleen, bone marrow and fetal liver. Isoform 4 is only detected in brain
genes like me logo Genes that share expressions with NLRC4: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Expression partners for NLRC4 Gene

Orthologs for NLRC4 Gene

This gene was present in the common ancestor of animals.

Orthologs for NLRC4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NLRC4 35
  • 86.73 (n)
  • 82.4 (a)
NLRC4 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nlrc4 35
  • 79.65 (n)
  • 75 (a)
Nlrc4 16
Nlrc4 36
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NLRC4 35
  • 99.71 (n)
  • 99.71 (a)
NLRC4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nlrc4 35
  • 79.47 (n)
  • 76.25 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 6 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia NLRC4 36
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nlrc4 35
  • 55.33 (n)
  • 48.13 (a)
fruit fly
(Drosophila melanogaster)
Insecta Iap2 36
  • 6 (a)
ManyToMany
th 36
  • 5 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 1 (a)
ManyToMany
-- 36
  • 9 (a)
ManyToMany
-- 36
  • 13 (a)
ManyToMany
-- 36
  • 1 (a)
ManyToMany
-- 36
  • 13 (a)
ManyToMany
-- 36
  • 8 (a)
ManyToMany
-- 36
  • 7 (a)
ManyToMany
-- 36
  • 8 (a)
ManyToMany
Species with no ortholog for NLRC4:
  • 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)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for NLRC4 Gene

ENSEMBL:
Gene Tree for NLRC4 (if available)
TreeFam:
Gene Tree for NLRC4 (if available)

Paralogs for NLRC4 Gene

Paralogs for NLRC4 Gene

genes like me logo Genes that share paralogs with NLRC4: view

Variants for NLRC4 Gene

Sequence variations from dbSNP and Humsavar for NLRC4 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs212704 -- 32,225,279(-) GGCTC(A/G)GGAGG intron-variant
rs212705 -- 32,225,439(+) TGTGT(C/G)TGTGT intron-variant
rs212706 -- 32,226,063(-) CCGAA(C/T)CTTTC intron-variant
rs212707 -- 32,226,079(-) TTAAG(A/G)TTGTA intron-variant
rs212708 -- 32,226,377(-) AGACC(C/T)TATGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NLRC4 Gene

Variant ID Type Subtype PubMed ID
nsv833670 CNV Loss 17160897
esv2422335 CNV Duplication 17116639
nsv2667 CNV Loss 18451855
esv21473 CNV Loss 19812545
esv2719878 CNV Deletion 23290073

Relevant External Links for NLRC4 Gene

HapMap Linkage Disequilibrium report
NLRC4
Human Gene Mutation Database (HGMD)
NLRC4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NLRC4 Gene

Disorders for NLRC4 Gene

UniProtKB/Swiss-Prot

NLRC4_HUMAN
  • Autoinflammation with infantile enterocolitis (AIFEC) [MIM:616050]: An autosomal dominant disorder characterized by neonatal-onset enterocolitis, periodic fever, and fatal or near-fatal episodes of autoinflammation. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy, recurrent febrile episodes with splenomegaly, and sometimes hematologic disturbances, arthralgias, or myalgias. {ECO:0000269 PubMed:25217959, ECO:0000269 PubMed:25217960}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Familial cold autoinflammatory syndrome 4 (FCAS4) [MIM:616115]: A form of autoinflammatory syndrome, a rare autosomal dominant systemic 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:25385754}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for NLRC4 Gene

Relevant External Links for NLRC4

Genetic Association Database (GAD)
NLRC4
Human Genome Epidemiology (HuGE) Navigator
NLRC4
genes like me logo Genes that share disorders with NLRC4: view

No data available for OMIM , Novoseek inferred disease relationships and Genatlas for NLRC4 Gene

Publications for NLRC4 Gene

  1. CLAN, a novel human CED-4-like gene. (PMID: 11472070) Damiano J.S. … Reed J.C. (Genomics 2001) 3 4 23
  2. Heterotypic interactions among NACHT domains: implications for regulation of innate immune responses. (PMID: 15107016) Damiano J.S. … Reed J.C. (Biochem. J. 2004) 3 4 23
  3. Polymorphisms in NACHT-LRR (NLR) genes in atopic dermatitis. (PMID: 17620097) Macaluso F. … Hoffjan S. (Exp. Dermatol. 2007) 3 23 48
  4. Human CARD12 is a novel CED4/Apaf-1 family member that induces apoptosis. (PMID: 11374873) Geddes B.J. … Bertin J. (Biochem. Biophys. Res. Commun. 2001) 2 3 4
  5. Identification of Ipaf, a human caspase-1-activating protein related to Apaf-1. (PMID: 11390368) Poyet J.-L. … Alnemri E.S. (J. Biol. Chem. 2001) 3 4

Products for NLRC4 Gene

Sources for NLRC4 Gene

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