Gene Gene information from NCBI Gene database.
Entrez ID 22900
Gene name Caspase recruitment domain family member 8
Gene symbol CARD8
Synonyms (NCBI Gene)
CARDINALDACARDAKARNDPPNDPP1TUCAN
Chromosome 19
Chromosome location 19q13.33
Summary The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB). This protein may be a component of the infl
miRNA miRNA information provided by mirtarbase database.
476
miRTarBase ID miRNA Experiments Reference
MIRT000825 hsa-miR-15a-5p Microarray 18362358
MIRT000824 hsa-miR-16-5p Microarray 18362358
MIRT019890 hsa-miR-375 Microarray 20215506
MIRT053405 hsa-miR-629-5p Microarray 23807165
MIRT683581 hsa-miR-548c-3p HITS-CLIP 23313552
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
NFKB1 Unknown 17878386
RELA Unknown 17878386
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
51
GO ID Ontology Definition Evidence Reference
GO:0002218 Process Activation of innate immune response IBA
GO:0002376 Process Immune system process IEA
GO:0004175 Function Endopeptidase activity IDA 22087307, 34019797
GO:0005515 Function Protein binding IPI 11551959, 15030775, 31525884, 33542150
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609051 17057 ENSG00000105483
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y2G2
Protein name Caspase recruitment domain-containing protein 8 (EC 3.4.-.-) (CARD-inhibitor of NF-kappa-B-activating ligand) (CARDINAL) (Tumor up-regulated CARD-containing antagonist of CASP9) (TUCAN) [Cleaved into: Caspase recruitment domain-containing protein 8, C-ter
Protein function Inflammasome sensor, which mediates inflammasome activation in response to various pathogen-associated signals, leading to subsequent pyroptosis of CD4(+) T-cells and macrophages (PubMed:11408476, PubMed:11821383, PubMed:15030775, PubMed:3205125
PDB 4IKM , 6K9F , 6XKJ , 7JKQ , 7JN7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13553 FIIND 77 330 Function to find Family
PF00619 CARD 345 429 Caspase recruitment domain Domain
Tissue specificity TISSUE SPECIFICITY: High expression in lung, ovary, testis and placenta (PubMed:11551959). Lower expression in heart, kidney and liver (PubMed:11551959). Also expressed in spleen, lymph node and bone marrow (PubMed:11821383). {ECO:0000269|PubMed:11551959,
Sequence
Sequence length 431
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  NOD-like receptor signaling pathway   Formation of apoptosome
Regulation of the apoptosome activity
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
19
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CARD8-related disorder Uncertain significance; Likely benign; Conflicting classifications of pathogenicity rs141307910, rs150982505, rs139343522, rs143813106, rs142119092, rs761116872, rs139160093, rs1264418977, rs536212135, rs140107706, rs138177358, rs769053445, rs138051424 RCV003426050
RCV004756234
RCV003946236
RCV003938867
RCV003940869
RCV003407848
RCV003923356
RCV004756296
RCV003401839
RCV003951212
RCV003946390
RCV003392922
RCV003970712
Inflammatory bowel disease 30 Uncertain significance; Likely benign rs141307910, rs2146245109, rs2146193028, rs1041860600, rs879255364, rs753171247 RCV005361544
RCV004820900
RCV003138048
RCV002289074
RCV001263446
RCV003989248
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35476781
Adenocarcinoma of Lung Inhibit 35996500, 38166691
Alcoholism Associate 34587665
Anxiety Associate 34587665
Aortic Aneurysm Abdominal Associate 27157464
Arteriosclerosis Obliterans Associate 28135700
Arthritis Gouty Associate 26462562
Arthritis Psoriatic Associate 33300400
Arthritis Rheumatoid Associate 23088220
Atherosclerosis Associate 33154409