NLRC4 gene

NLR family CARD domain containing 4

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Autoinflammation with infantile enterocolitis
  • Familial cold autoinflammatory syndrome 4

From UniProt:

Autoinflammation with infantile enterocolitis (AIFEC): 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. [MIM:616050]

Familial cold autoinflammatory syndrome 4 (FCAS4): 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. [MIM:616115]

Cytogenetic Location: 2p22.3, which is the short (p) arm of chromosome 2 at position 22.3

Molecular Location: base pairs 32,224,449 to 32,265,743 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2p22.3, which is the short (p) arm of chromosome 2 at position 22.3
  • CARD12
  • CLAN
  • CLAN1
  • CLR2.1
  • FCAS4
  • IPAF