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Nlrc4 Gene Detail
Summary
  • Symbol
    Nlrc4
  • Name
    NLR family, CARD domain containing 4
  • Synonyms
    9530011P19Rik, Card12, Ipaf
  • Feature Type
    protein coding gene
  • IDs
    MGI:3036243
    NCBI Gene: 268973
  • Gene Overview
    MyGene.info: NLRC4
Location & Maps
more
  • Sequence Map
    Chr17:74426295-74459108 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      32814 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 45.64 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    NLRC4, NLR family CARD domain containing 4
  • Vertebrate Orthologs
    7
  • Human Ortholog
    NLRC4, NLR family CARD domain containing 4
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AIFEC, CARD12, CLAN, CLAN1, CLANA, CLANB, CLANC, CLAND, CLR2.1, FCAS4, IPAF
  • Links
    NCBI Gene ID: 58484
    neXtProt AC: NX_Q9NPP4

  • Chr Location
    2p22.3; chr2:32224449-32265743 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Nlrc4 mouse models; 2 with human NLRC4 associations

Human Disease Mouse Models
       Familial Cold Autoinflammatory Syndrome 4; FCAS4   OMIM: 616115 View 1 model
       Autoinflammation with Infantile Enterocolitis; AIFEC   OMIM: 616050
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    21 phenotypes from 6 alleles in 5 genetic backgrounds
    2 phenotypes from multigenic genotypes
    128 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    26
  • Chemically induced (ENU)
    1
  • Gene trapped
    18
  • Targeted
    6
  • Transgenic
    1
  • Incidental Mutations
Homozygotes for a null allele show lack of caspase-1 activation in macrophages infected with Legionella and Salmonella, and enhanced permissivity to Legionella replication. Homozygotes for another null allele fail to show caspase dependent cell death andIL-1beta secretion upon Salmonella infection.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000039193 Ensembl Gene Model | MGI Sequence Detail 32814 C57BL/6J ±  kb
transcript ENSMUST00000052124 Ensembl | MGI Sequence Detail 3838 Not Applicable  
polypeptide ENSMUSP00000059637 Ensembl | MGI Sequence Detail 1024 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    240 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 8
    cDNA 8

    Microarray probesets 1
References
more
  • Summaries
    All 155
    Diseases 1
    Gene Ontology 9
    Phenotypes 128
  • Earliest
    J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
  • Latest
    J:233320 Rauch I, et al., NAIP proteins are required for cytosolic detection of specific bacterial ligands in vivo. J Exp Med. 2016 May 2;213(5):657-65

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory