CARD10 (caspase recruitment domain family member 10)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29775
Gene name Gene Name - the full gene name approved by the HGNC.
Caspase recruitment domain family member 10
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CARD10
Synonyms (NCBI Gene) Gene synonyms aliases
BIMP1, CARMA3, IMD89
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.1
Summary Summary of gene provided in NCBI Entrez Gene.
The caspase recruitment domain (CARD) is a protein module that consists of 6 or 7 antiparallel alpha helices. It participates in apoptosis signaling through highly specific protein-protein homophilic interactions. Like several other CARD proteins, CARD10
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs139006752 G>A Risk-factor Coding sequence variant, missense variant
rs200148764 C>T Risk-factor Coding sequence variant, missense variant
rs201794655 G>A Risk-factor Coding sequence variant, missense variant
rs750643216 G>A Risk-factor Coding sequence variant, missense variant
rs1057519378 C>A,T Risk-factor Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(132)
miRTarBase ID miRNA Experiments Reference
MIRT020696 hsa-miR-155-5p Other 20584899
MIRT027101 hsa-miR-103a-3p Sequencing 20371350
MIRT030440 hsa-miR-24-3p Microarray 19748357
MIRT031650 hsa-miR-16-5p Sequencing 20371350
MIRT053495 hsa-miR-146a-5p In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot 22992343
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0001772 Component Immunological synapse IBA
GO:0005515 Function Protein binding IPI 11259443, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm NAS 11259443
GO:0007250 Process Activation of NF-kappaB-inducing kinase activity IDA 11259443
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607209 16422 ENSG00000100065
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9BWT7
Protein name Caspase recruitment domain-containing protein 10 (CARD-containing MAGUK protein 3) (Carma 3)
Protein function Scaffold protein that plays an important role in mediating the activation of NF-kappa-B via BCL10 or EGFR.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00619 CARD 28 → 114 Caspase recruitment domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in adult heart, kidney and liver; lower levels in intestine, placenta, muscle and lung. Also found in fetal lung, liver and kidney.
Sequence 
MPGRAEAGEAEEEAGAGSGSEAEEDALWERIEGVRHRLARALNPAKLTPYLRQCRVIDEQ
DEEEVLSTYRFPCRVNRTGRLMDILRCRGKRGYEAFLEALEFYYPEHFTLLTGQEPAQRC
SMILDEEGPEGLTQFLMTEVRRLREARKSQLQREQQLQARGRVLEEERAGLEQRLRDQQQ
AQERCQRLREDWEAGSLELLRLKDENYMIAMRLAQLSEEKNSAVLRSRDLQLAVDQLKLK
VSRLEEECALLRRARGPPPGAEEKEKEKEKEKEPDNVDLVSELRAENQRLTASLRELQEG
LQQEASRPGAPGSERILLDILEHDWREAQDSRQELCQKLHAVQGELQWAEELRDQYLQEM
EDLRLKHRTLQKDCDLYKHRMATVLAQLEEIEKERDQAIQSRDRIQLQYSQSLIEKDQYR
KQVRGLEAERDELLTTLTSLEGTKALLEVQLQRAQGGTCLKACASSHSLCSNLSSTWSLS
EFPSPLGGPEATGEAAVMGGPEPHNSEEATDSEKEINRLSILPFPPSAGSILRRQREEDP
APPKRSFSSMSDITGSVTLKPWSPGLSSSSSSDSVWPLGKPEGLLARGCGLDFLNRSLAI
RVSGRSPPGGPEPQDKGPDGLSFYGDRWSGAVVRRVLSGPGSARMEPREQRVEAAGLEGA
CLEAEAQQRTLLWNQGSTLPSLMDSKACQSFHEALEAWAKGPGAEPFYIRANLTLPERAD
PHALCVKAQEILRLVDSAYKRRQEWFCTRVDPLTLRDLDRGTVPNYQRAQQLLEVQEKCL
PSSRHRGPRSNLKKRALDQLRLVRPKPVGAPAGDSPDQLLLEPCAEPERSLRPYSLVRPL
LVSALRPVVLLPECLAPRLIRNLLDLPSSRLDFQVCPAESLSGEELCPSSAPGAPKAQPA
TPGLGSRIRAIQESVGKKHCLLELGARGVRELVQNEIYPIVIHVEVTEKNVREVRGLLGR
PGWRDSELLRQCRGSEQVLWGLPCSWVQVPAHEWGHAEELAKVVRGRILQEQARLVWVEC
GSSRGCPSSSEA
Sequence length 1032
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  NF-kappa B signaling pathway  
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Immunodeficiency immunodeficiency 89 and autoimmunity N/A N/A GenCC
Open Angle Glaucoma Primary open angle glaucoma N/A N/A ClinVar
Sarcoidosis Sarcoidosis N/A N/A GWAS
Show/Hide Text Mining Associations (24)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Aortic Aneurysm Abdominal Associate 32138469
Breast Neoplasms Stimulate 23708960
Breast Neoplasms Associate 31409895
Carcinogenesis Associate 23771851, 24018495
Carcinogenesis Stimulate 31576094
Carcinoma Hepatocellular Stimulate 24018495
Carcinoma Hepatocellular Associate 31576094
Carcinoma Non Small Cell Lung Associate 22615840, 26526492
Carcinoma Ovarian Epithelial Associate 24833094
Carcinoma Renal Cell Associate 23771851, 31939627, 34190011