Gene Gene information from NCBI Gene database.
Entrez ID 29108
Gene name PYD and CARD domain containing
Gene symbol PYCARD
Synonyms (NCBI Gene)
ASCCARD5TMSTMS-1TMS1
Chromosome 16
Chromosome location 16p11.2
Summary This gene encodes an adaptor protein that is composed of two protein-protein interaction domains: a N-terminal PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment domain (CARD). The PYD and CARD domains are members of the six-helix bundle d
miRNA miRNA information provided by mirtarbase database.
82
miRTarBase ID miRNA Experiments Reference
MIRT022399 hsa-miR-124-3p Microarray 18668037
MIRT650297 hsa-miR-4753-5p HITS-CLIP 23824327
MIRT650296 hsa-miR-3922-5p HITS-CLIP 23824327
MIRT650295 hsa-miR-6892-3p HITS-CLIP 23824327
MIRT650294 hsa-miR-2276-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
161
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 23229815
GO:0000139 Component Golgi membrane IEA
GO:0001773 Process Myeloid dendritic cell activation IEA
GO:0001773 Process Myeloid dendritic cell activation IMP 22732093
GO:0002020 Function Protease binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606838 16608 ENSG00000103490
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9ULZ3
Protein name Apoptosis-associated speck-like protein containing a CARD (hASC) (Caspase recruitment domain-containing protein 5) (PYD and CARD domain-containing protein) (Target of methylation-induced silencing 1)
Protein function Functions as a key mediator in apoptosis and inflammation (PubMed:11103777, PubMed:12646168, PubMed:15030775, PubMed:17349957, PubMed:17599095, PubMed:19158675, PubMed:19158676, PubMed:19234215, PubMed:19494289, PubMed:21487011, PubMed:24630722,
PDB 1UCP , 2KN6 , 3J63 , 5H8O , 6K99 , 6KI0 , 6N1H , 7E5B , 7KEU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02758 PYRIN 7 83 PAAD/DAPIN/Pyrin domain Domain
PF00619 CARD 112 195 Caspase recruitment domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed at low levels. Detected in peripheral blood leukocytes, lung, small intestine, spleen, thymus, colon and at lower levels in placenta, liver and kidney. Very low expression in skeletal muscle, heart and brain. Expressed
Sequence
Sequence length 195
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Necroptosis
NOD-like receptor signaling pathway
Cytosolic DNA-sensing pathway
C-type lectin receptor signaling pathway
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Pertussis
Legionellosis
Yersinia infection
Influenza A
Lipid and atherosclerosis
  CLEC7A/inflammasome pathway
Neutrophil degranulation
The NLRP3 inflammasome
Purinergic signaling in leishmaniasis infection
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
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
CALCINOSIS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, LARGE CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG 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
Adenocarcinoma Adenocarcinoma BEFREE 16778195, 19689463, 23065574, 24603303
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma CTD_human_DG 16778195
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Basal Cell Adenocarcinoma CTD_human_DG 16778195
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Oxyphilic Adenocarcinoma CTD_human_DG 16778195
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Tubular Adenocarcinoma CTD_human_DG 16778195
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 17986858
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 17986858
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 26939933 Associate
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 18791131, 29293211, 29634349
★☆☆☆☆
Found in Text Mining only
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 23452957, 29854761
★☆☆☆☆
Found in Text Mining only