NLRC4 (NLR family CARD domain containing 4)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 58484
Gene name NLR family CARD domain containing 4
Gene symbol NLRC4
Synonyms (NCBI Gene)
AIFECCARD12CLANCLAN1CLANACLANBCLANCCLANDCLR2.1FCAS4IPAF
Chromosome 2
Chromosome location 2p22.3
Summary 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 re
SNPs SNP information provided by dbSNP.
7
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs587777840 T>A Pathogenic Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs587781260 A>G Pathogenic Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs606231460 T>G Pathogenic Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs1057518687 G>A Likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs1064795274 C>T Likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant, intron variant
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT017182 hsa-miR-335-5p Microarray 18185580
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
TP53 Activation 15580302
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding TAS 15882992
GO:0002218 Process Activation of innate immune response IEA
GO:0002218 Process Activation of innate immune response ISS
GO:0002221 Process Pattern recognition receptor signaling pathway NAS 21918512
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606831 16412 ENSG00000091106
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NPP4
Protein name NLR family CARD domain-containing protein 4 (CARD, LRR, and NACHT-containing protein) (CED-4-like protein Clan) (Caspase recruitment domain-containing protein 12) (Ice protease-activating factor) (Ipaf)
Protein 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 (PubM
PDB 6K8J , 6MKS , 6N1I , 8FVU , 8FW2 , 8FW9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00619 CARD 1 → 87 Caspase recruitment domain Domain
PF05729 NACHT 163 → 316 NACHT domain Domain
PF17889 NLRC4_HD 465 → 579 NLRC4 helical domain Domain
Tissue specificity 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 an
Sequence 
MNFIKDNSRALIQRMGMTVIKQITDDLFVWNVLNREEVNIICCEKVEQDAARGIIHMILK
KGSESCNLFLKSLKEWNYPLFQDLNGQSLFHQTSEGDLDDLAQDLKDLYHTPSFLNFYPL
GEDIDIIFNLKSTFTEPVLWRKDQHHHRVEQLTLNGLLQALQSPCIIEGESGKGKSTLLQ
RIAMLWGSGKCKALTKFKFVFFLRLSRAQGGLFETLCDQLLDIPGTIRKQTFMAMLLKLR
QRVLFLLDGYNEFKPQNCPEIEALIKENHRFKNMVIVTTTTECLRHIRQFGALTAEVGDM
TEDSAQALIREVLIKELAEGLLLQIQKSRCLRNLMKTPLFVVITCAIQMGESEFHSHTQT
TLFHTFYDLLIQKNKHKHKGVAASDFIRSLDHCGDLALEGVFSHKFDFELQDVSSVNEDV
LLTTGLLCKYTAQRFKPKYKFFHKSFQEYTAGRRLSSLLTSHEPEEVTKGNGYLQKMVSI
SDITSTYSSLLRYTCGSSVEATRAVMKHLAAVYQHGCLLGLSIAKRPLWRQESLQSVKNT
TEQEILKAININSFVECGIHLYQESTSKSALSQEFEAFFQGKSLYINSGNIPDYLFDFFE
HLPNCASALDFIKLDFYGGAMASWEKAAEDTGGIHMEEAPETYIPSRAVSLFFNWKQEFR
TLEVTLRDFSKLNKQDIRYLGKIFSSATSLRLQIKRCAGVAGSLSLVLSTCKNIYSLMVE
ASPLTIEDERHITSVTNLKTLSIHDLQNQRLPGGLTDSLGNLKNLTKLIMDNIKMNEEDA
IKLAEGLKNLKKMCLFHLTHLSDIGEGMDYIVKSLSSEPCDLEEIQLVSCCLSANAVKIL
AQNLHNLVKLSILDLSENYLEKDGNEALHELIDRMNVLEQLTALMLPWGCDVQGSLSSLL
KHLEEVPQLVKLGLKNWRLTDTEIRILGAFFGKNPLKNFQQLNLAGNRVSSDGWLAFMGV
FENLKQLVFFDFSTKEFLPDPALVRKLSQVLSKLTFLQEARLVGWQFDDDDLSVITGAFK
LVTA
Sequence length 1024
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  NOD-like receptor signaling pathway
Shigellosis
Salmonella infection
Legionellosis
Yersinia infection 		  TP53 Regulates Transcription of Caspase Activators and Caspases
The IPAF inflammasome
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autoinflammatory syndrome Likely pathogenic rs1553347334, rs774546369 RCV002262078
RCV002262087
Familial cold autoinflammatory syndrome 4 Pathogenic; Likely pathogenic rs2148942588, rs587781260, rs587777840, rs606231460, rs2466760157 RCV001730172
RCV001857479
RCV001382868
RCV000148929
RCV005227784
Periodic fever-infantile enterocolitis-autoinflammatory syndrome Pathogenic; Likely pathogenic rs587781260, rs587777840, rs606231460, rs2466760157, rs1687057544, rs2466764015, rs1057518687 RCV000144517
RCV000144518
RCV001227277
RCV005227784
RCV003126395
RCV004560171
RCV000414888
RCV001270834
Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) Pathogenic rs587781260 RCV000132764
Show/Hide Unknown Diseases (7)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Atopic eczema Conflicting classifications of pathogenicity rs781002536 RCV005626264
Cholangiocarcinoma Benign rs200950944 RCV005922981
Clear cell carcinoma of kidney Benign; Likely benign rs34577313 RCV005910740
Gastric cancer Benign rs200950944 RCV005922980
Show/Hide Text Mining Associations (70)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Pain Associate 34783940
Adenocarcinoma of Lung Associate 32212216, 35029906, 35866781
Aneurysm Ruptured Stimulate 32589050
Arthralgia Associate 34248956, 34783940
Arthritis Associate 31870725
Arthritis Juvenile Associate 30619348
Arthritis Rheumatoid Associate 36194479, 37659984
Astrocytoma Stimulate 31133717
Atherosclerosis Associate 32276737
Autism Spectrum Disorder Associate 35773312