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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Immunodeficiency 89 and autoimmunity Pathogenic rs748488870 RCV001787025
★★★★☆
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
AUTOIMMUNE HEPATITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARD10-related disorder Uncertain significance; Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer risk factor; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
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
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 32138469 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 18757306
★☆☆☆☆
Found in Text Mining only
Autoimmune Chronic Hepatitis Autoimmune hepatitis BEFREE 24768677
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 26277595
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 30723269, 31496734, 31565867
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23708960, 29259013, 31409895
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23708960 Stimulate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 31409895 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 23771851, 24018495 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 31576094 Stimulate
★☆☆☆☆
Found in Text Mining only