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

Summary

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 and negative regulation of interleukin-1 beta production. Part of protein-containing complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in skin (RPKM 6.9) and esophagus (RPKM 0.8) See more
Orthologs: all
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Genomic context

Location:: 11q22.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (105137714..105139769, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (105141800..105143855, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (105008441..105010496, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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].
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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)

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