Gene Gene information from NCBI Gene database.
Entrez ID 29775
Gene name Caspase recruitment domain family member 10
Gene symbol CARD10
Synonyms (NCBI Gene)
BIMP1CARMA3IMD89
Chromosome 22
Chromosome location 22q13.1
Summary 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.
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.
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 hybridizationLuciferase reporter assayqRT-PCRWestern blot 22992343
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607209 16422 ENSG00000100065
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
DEEEVLSTYRFPCRVNRTGRLMDILRCRGKRGYEAFLEALEFYYPEHFTLLTGQ
EPAQRC
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.
  KEGG 
  NF-kappa B signaling pathway  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
59
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Immunodeficiency 89 and autoimmunity Pathogenic rs748488870 RCV001787025
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CARD10-related disorder Uncertain significance; Benign; Likely benign rs200553561, rs2517793087, rs9610775, rs3817806, rs145143750, rs79861380, rs61742320, rs60611523, rs141880624, rs150575230, rs374177056, rs3817803, rs151290630, rs143997223, rs377009692
View all (15 more)
RCV003923967
RCV003983331
RCV003984659
RCV003984784
RCV003916982
RCV003973840
RCV003973973
RCV003982305
RCV003909658
RCV003961692
RCV003947361
RCV003981249
RCV003927215
RCV003937032
RCV003937221
RCV003959178
RCV003954777
RCV003942274
RCV003946816
RCV003971813
RCV003963829
RCV003976590
RCV003972266
RCV003978937
RCV003978940
RCV003969013
RCV003981339
RCV003915966
RCV003972950
RCV003910532
RCV003930583
Cervical cancer risk factor; Benign rs139006752, rs61742320 RCV005893846
RCV005935535
Clear cell carcinoma of kidney Benign rs150575230 RCV005933349
Colon adenocarcinoma risk factor; Benign rs139006752, rs150575230 RCV005893844
RCV005933348
Associations from Text MiningDisease 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