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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARD8-related disorder Uncertain significance; Likely benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Inflammatory bowel disease 30 Uncertain significance; Likely benign ClinVar
CTD, ClinVar
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
OCCUPATIONAL DISEASES CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 31428046
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 31428046
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 23547871
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety disorder Pubtator 34587665 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 27157464 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 21621776
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 23611467
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 19106604
★☆☆☆☆
Found in Text Mining only
Arthritis Gouty Gouty arthritis Pubtator 26462562 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 33300400 Associate
★☆☆☆☆
Found in Text Mining only