CRADD (CARD and death domain containing adaptor protein)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 8738
Gene name CARD and death domain containing adaptor protein
Gene symbol CRADD
Synonyms (NCBI Gene)
MRT34RAIDD
Chromosome 12
Chromosome location 12q22
Summary This gene encodes a protein containing a death domain (DD) motif. This protein recruits caspase 2/ICH1 to the cell death signal transduction complex, which includes tumor necrosis factor receptor 1 (TNFR1A) and RIPK1/RIP kinase, and acts in promoting apop
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs141179774 G>A Pathogenic-likely-pathogenic Missense variant, downstream transcript variant, intron variant, genic downstream transcript variant, coding sequence variant
rs370916968 T>G Pathogenic Genic downstream transcript variant, coding sequence variant, intron variant, missense variant, downstream transcript variant
rs387906861 G>A,C Pathogenic Downstream transcript variant, missense variant, genic downstream transcript variant, intron variant, coding sequence variant
rs749655461 C>T Pathogenic Coding sequence variant, intron variant, downstream transcript variant, missense variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
18
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (18)
miRTarBase ID miRNA Experiments Reference
MIRT029087 hsa-miR-26b-5p Microarray 19088304
MIRT514653 hsa-miR-5011-5p PAR-CLIP 23446348
MIRT514652 hsa-miR-8076 PAR-CLIP 23446348
MIRT514651 hsa-miR-1246 PAR-CLIP 23446348
MIRT514650 hsa-miR-3201 PAR-CLIP 23446348
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (29)
GO ID Ontology Definition Evidence Reference
GO:0002020 Function Protease binding IBA
GO:0002020 Function Protease binding IEA
GO:0002020 Function Protease binding IPI 9044836
GO:0005515 Function Protein binding IPI 8985253, 11156409, 15073321, 16652156, 17159900, 22458338, 25416956, 25910212, 27107012, 27773430, 31467278, 31515488, 32296183, 37398436
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603454 2340 ENSG00000169372
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P78560
Protein name Death domain-containing protein CRADD (Caspase and RIP adapter with death domain) (RIP-associated protein with a death domain)
Protein function Adapter protein that associates with PIDD1 and the caspase CASP2 to form the PIDDosome, a complex that activates CASP2 and triggers apoptosis (PubMed:15073321, PubMed:16652156, PubMed:17159900, PubMed:17289572, PubMed:9044836). Also recruits CAS
PDB 2O71 , 2OF5 , 3CRD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00619 CARD 6 → 89 Caspase recruitment domain Domain
PF00531 Death 117 → 195 Death domain Domain
Tissue specificity TISSUE SPECIFICITY: Constitutively expressed in most tissues, with particularly high expression in adult heart, testis, liver, skeletal muscle, fetal liver and kidney. {ECO:0000269|PubMed:8985253, ECO:0000269|PubMed:9044836}.
Sequence
Sequence length 199
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
  Reactome
    TP53 Regulates Transcription of Caspase Activators and Caspases
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial isolated arrhythmogenic right ventricular dysplasia Likely pathogenic; Pathogenic rs2540635374 RCV004544211
Intellectual disability Pathogenic rs141179774, rs772665884 RCV001261380
RCV001261379
Intellectual disability, autosomal recessive 34 Likely pathogenic; Pathogenic rs2540635374, rs749655461, rs141179774, rs1207931375 RCV004526358
RCV000412552
RCV000412611
RCV005011725
Moderate intellectual disability Pathogenic rs772665884 RCV001089807
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CRADD-related disorder Likely benign; Benign rs114077479, rs184285624, rs2540661007, rs557566426, rs4332566, rs73365258, rs200632197 RCV003948695
RCV003906542
RCV003983543
RCV003971720
RCV003972852
RCV003936036
RCV003968199
Global developmental delay Uncertain significance rs563879626 RCV001801171
Seizure Uncertain significance rs563879626 RCV001801171
Show/Hide Text Mining Associations (19)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 30914828
Aortic Valve Disease Associate 33125279
Atrial Fibrillation Associate 31894294
Breast Neoplasms Associate 17934210
Developmental Disabilities Associate 34163010
Disease Associate 33125279
Epilepsy Associate 34163010
Intellectual Disability Associate 30914828, 34163010
Isodicentric Chromosome 15 Syndrome Associate 28591699
Lissencephaly Associate 30914828, 34163010, 37880421