NLRC4 (NLR family CARD domain containing 4)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
58484
Gene name Gene Name - the full gene name approved by the HGNC.
NLR family CARD domain containing 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NLRC4
Synonyms (NCBI Gene) Gene synonyms aliases
AIFEC, CARD12, CLAN, CLAN1, CLANA, CLANB, CLANC, CLAND, CLR2.1, FCAS4, IPAF
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p22.3
Summary Summary of gene provided in NCBI Entrez 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 re
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT017182 hsa-miR-335-5p Microarray 18185580
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
TP53 Activation 15580302
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(51)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606831 16412 ENSG00000091106
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cold Autoinflammatory Syndrome familial cold autoinflammatory syndrome 4 rs606231460 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Autoinflammatory Disease Autoinflammatory syndrome N/A N/A ClinVar
Breast Cancer Breast cancer specific mortality in breast cancer N/A N/A GWAS
Enterocolitis periodic fever-infantile enterocolitis-autoinflammatory syndrome N/A N/A GenCC
Show/Hide Text Mining Associations (70)
Associations from Text Mining Disease 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