CARD19 (caspase recruitment domain family member 19)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 84270
Gene name Caspase recruitment domain family member 19
Gene symbol CARD19
Synonyms (NCBI Gene)
BinCARDC9orf89
Chromosome 9
Chromosome location 9q22.31
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (13)
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus NAS 15637807
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617726 28148 ENSG00000165233
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96LW7
Protein name Caspase recruitment domain-containing protein 19 (Bcl10-interacting CARD protein) (BinCARD)
Protein function Plays a role in inhibiting the effects of BCL10-induced activation of NF-kappa-B. May inhibit the phosphorylation of BCL10 in a CARD-dependent manner.
PDB 4DWN , 4FH0
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in ovary, testis, placenta, skeletal muscle, kidney, lung, heart and liver (at protein level). Expressed in thymus and brain. {ECO:0000269|PubMed:15637807}.
Sequence 
MTDQTYCDRLVQDTPFLTGHGRLSEQQVDRIILQLNRYYPQILTNKEAEKFRNPKASLRV
RLCDLLSHLQRSGERDCQEFYRALYIHAQPLHSRLPSRHALRKFHITNHACLVLARGGHP
SLPLMAWMSSMTTQVCCSPGLASPLASAPPQRPPSGPEGRVWQAQAVQMLVSVSHFLPLP
PSLSHGSFHTAWGILYVHSCPSFSNLIPRGSLHVCVDSNLVPTAAWRS
Sequence length 228
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (3)
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
Colon adenocarcinoma Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Squamous Cell Carcinoma of Head and Neck Squamous cell carcinoma Pubtator 36012427 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only