NLRC4 NLR family CARD domain containing 4
Gene ID: 58484, updated on 8-Apr-2024Gene type: protein coding
Also known as: CLAN; IPAF; AIFEC; CLAN1; CLANA; CLANB; CLANC; CLAND; FCAS4; CARD12; CLR2.1
- See all available tests in GTR for this gene
- Go to complete Gene record for NLRC4
- Go to Variation Viewer for NLRC4 variants
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 result in autoinflammation with infantile enterocolitis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Familial cold autoinflammatory syndrome 4 | See labs |
| Novel gene variants predict serum levels of the cytokines IL-18 and IL-1ra in older adults. GeneReviews: Not available | |
| Periodic fever-infantile enterocolitis-autoinflammatory syndrome | See labs |
Genomic context
- Location:
- 2p22.3
- Sequence:
- Chromosome: 2; NC_000002.12 (32224449..32265743, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NLRC4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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