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    CARD18 caspase recruitment domain family member 18 [ Homo sapiens (human) ]

    Gene ID: 59082, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CARD18provided by HGNC
    Official Full Name
    caspase recruitment domain family member 18provided by HGNC
    Primary source
    HGNC:HGNC:28861
    See related
    Ensembl:ENSG00000255501 MIM:605354; AllianceGenome:HGNC:28861
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ICEBERG; UNQ5804; pseudo-ICE
    Summary
    Enables CARD domain binding activity and caspase binding activity. Involved in inhibition of cysteine-type endopeptidase activity; negative regulation of interleukin-1 beta production; and negative regulation of protein binding activity. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in skin (RPKM 6.9) and esophagus (RPKM 0.8) See more
    Orthologs
    all
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    Genomic context

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    Location:
    11q22.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (105137714..105139769, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (105141800..105143855, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (105008441..105010496, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene caspase recruitment domain family member 17, pseudogene Neighboring gene caspase 1 pseudogene 3 Neighboring gene caspase 1 pseudogene 1 Neighboring gene uncharacterized LOC105369468 Neighboring gene uncharacterized LOC105369469 Neighboring gene olfactory receptor family 2 subfamily AL member 1 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The caspase-1 inhibitor CARD18 is specifically expressed during late differentiation of keratinocytes and its expression is lost in lichen planus. Qin H, et al. J Dermatol Sci, 2017 Aug. PMID 28506683
    2. Keratinocytes express functional CARD18, a negative regulator of inflammasome activation, and its altered expression in psoriasis may contribute to disease pathogenesis. Göblös A, et al. Mol Immunol, 2016 May. PMID 27023378
    3. [The expression of CARD18 in apoptin-transfected gastric cancer cells and gastric adenocarcinoma tissues]. Tan C, et al. Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi, 2013 Aug. PMID 23948415
    4. ICEBERG: a novel inhibitor of interleukin-1beta generation. Humke EW, et al. Cell, 2000 Sep 29. PMID 11051551
    5. Molecular basis of caspase-1 polymerization and its inhibition by a new capping mechanism. Lu A, et al. Nat Struct Mol Biol, 2016 May. PMID 27043298, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. In lesional epidermis of patients with lichen planus, CARD18 expression was either greatly diminished or entirely absent whereas in non-lesional areas expression was comparable to normal skin.
      Title: The caspase-1 inhibitor CARD18 is specifically expressed during late differentiation of keratinocytes and its expression is lost in lichen planus.
    2. CARD18 expression differs in healthy and psoriatic skin; moreover, CARD18 demonstrated altered response under inflammatory conditions in healthy and psoriatic skin
      Title: Keratinocytes express functional CARD18, a negative regulator of inflammasome activation, and its altered expression in psoriasis may contribute to disease pathogenesis.
    3. CARD18 may be both a promising marker for prognosis and a target protein for treatment of gastric cancer.
      Title: [The expression of CARD18 in apoptin-transfected gastric cancer cells and gastric adenocarcinoma tissues].
    4. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables CARD domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables caspase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables cysteine-type endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in inflammatory response NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in inhibition of cysteine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of interleukin-1 beta production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    caspase recruitment domain-containing protein 18
    Names
    ICEBERG caspase-1 inhibitor
    caspase-1 inhibitor Iceberg

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_021571.4 → NP_067546.1  caspase recruitment domain-containing protein 18

      See identical proteins and their annotated locations for NP_067546.1

      Status: VALIDATED

      Source sequence(s)
      AP003181, AW295205, AY358231
      Consensus CDS
      CCDS53705.1
      UniProtKB/Swiss-Prot
      A2RRF8, P57730
      Related
      ENSP00000436691.1, ENST00000530950.2
      Conserved Domains (1) summary
      cd08325
      Location:6 → 87
      CARD_CASP1-like; Caspase activation and recruitment domain found in Caspase-1 and related proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      105137714..105139769 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      105141800..105143855 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P57730.1 GenPept UniProtKB/Swiss-Prot:P57730

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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