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Aliases for NLRC4 Gene

Aliases for NLRC4 Gene

  • NLR Family, CARD Domain Containing 4 2 3 5
  • 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
  • CARD12 3 4
  • CLAN1 3 4
  • CLAN 3 4
  • IPAF 3 4
  • Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And CARD Domain Containing 4 3
  • Leucine Rich Repeat And CARD Domain Containing 4 2
  • 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 familial cold autoinflammatory syndrome 4 and autoinflammation with infantile enterocolitis. Among its related pathways are Gene Expression and Immune System. GO annotations related to this gene include protein homodimerization activity and ubiquitin-protein transferase activity. 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

Regulatory Elements for NLRC4 Gene

Promoters for NLRC4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NLRC4 on UCSC Golden Path with GeneCards custom track

Genomic Location for NLRC4 Gene

Chromosome:
2
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

Genes around NLRC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NLRC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 & Families for NLRC4 Gene

Gene Families for NLRC4 Gene

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 :
  • 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 12 LRR (leucine-rich) repeats.
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
genes like me logo Genes that share ontologies with NLRC4: view
genes like me logo Genes that share phenotypes with NLRC4: view

Human Phenotype Ontology for NLRC4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NLRC4 Gene

MGI Knock Outs for NLRC4:

Animal Model Products

miRNA for NLRC4 Gene

miRTarBase miRNAs that target NLRC4

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 5
nucleus 4
cytoskeleton 3
lysosome 2
mitochondrion 2
vacuole 2
endoplasmic reticulum 1
endosome 1
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for NLRC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005876 spindle microtubule IBA --
genes like me logo Genes that share ontologies with NLRC4: view

Pathways & Interactions for NLRC4 Gene

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

Pathways by source for NLRC4 Gene

Gene Ontology (GO) - Biological Process for NLRC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002218 activation of innate immune response IEA,ISS --
GO:0009966 regulation of signal transduction IBA --
GO:0016045 detection of bacterium IEA,IDA 15107016
GO:0035872 nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway TAS --
GO:0043281 regulation of cysteine-type endopeptidase activity involved in apoptotic process IEA --
genes like me logo Genes that share ontologies with NLRC4: view

No data available for SIGNOR curated interactions for NLRC4 Gene

Drugs & Compounds for NLRC4 Gene

(1) Drugs for NLRC4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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:

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 (x35.9).

Protein differential expression in normal tissues from HIPED for NLRC4 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with NLRC4: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-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
chimpanzee
(Pan troglodytes)
Mammalia NLRC4 35
  • 99.71 (n)
  • 99.71 (a)
NLRC4 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NLRC4 36
  • 80 (a)
OneToOne
NLRC4 35
  • 86.73 (n)
  • 82.4 (a)
mouse
(Mus musculus)
Mammalia Nlrc4 16
Nlrc4 36
  • 75 (a)
OneToOne
Nlrc4 35
  • 79.65 (n)
  • 75 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 6 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Nlrc4 35
  • 79.47 (n)
  • 76.25 (a)
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
VAR_072484 Autoinflammation with infantile enterocolitis (AIFEC)
VAR_072485 Autoinflammation with infantile enterocolitis (AIFEC)
VAR_072645 Familial cold autoinflammatory syndrome 4 (FCAS4)
rs212713 -- 32,232,468(-) GAAAT(A/G)AAATA intron-variant
rs212714 -- 32,235,279(-) AAATA(C/T)GTCTA 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

Variation tolerance for NLRC4 Gene

Residual Variation Intolerance Score: 5.87% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.71; 32.55% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(10) MalaCards diseases for NLRC4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search NLRC4 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for NLRC4

Genetic Association Database (GAD)
NLRC4
Human Genome Epidemiology (HuGE) Navigator
NLRC4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NLRC4
genes like me logo Genes that share disorders with NLRC4: view

No data available for Genatlas for NLRC4 Gene

Publications for NLRC4 Gene

  1. 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 67
  2. NAIP and Ipaf control Legionella pneumophila replication in human cells. (PMID: 18453601) Vinzing M. … Opitz B. (J. Immunol. 2008) 3 23
  3. Polymorphisms in NACHT-LRR (NLR) genes in atopic dermatitis. (PMID: 17620097) Macaluso F. … Hoffjan S. (Exp. Dermatol. 2007) 3 23
  4. Involvement of caspase 1 and its activator Ipaf upstream of mitochondrial events in apoptosis. (PMID: 16817903) Thalappilly S. … Swarup G. (FEBS J. 2006) 3 23
  5. Heterotypic interactions among NACHT domains: implications for regulation of innate immune responses. (PMID: 15107016) Damiano J.S. … Reed J.C. (Biochem. J. 2004) 3 23

Products for NLRC4 Gene

Sources for NLRC4 Gene

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