Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8738
Gene name Gene Name - the full gene name approved by the HGNC.
CARD and death domain containing adaptor protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CRADD
Synonyms (NCBI Gene) Gene synonyms aliases
MRT34, RAIDD
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MRT34
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q22
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002020 Function Protease binding IBA 21873635
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
GO:0005634 Component Nucleus ISS
GO:0005737 Component Cytoplasm IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603454 2340 ENSG00000169372
Protein
UniProt ID 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.
  Reactome
    TP53 Regulates Transcription of Caspase Activators and Caspases
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
23535033
Arthritis Degenerative polyarthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 30664745
Autism Autistic behavior rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Unknown
Disease term Disease name Evidence References Source
Chromophobe carcinoma Chromophobe Renal Cell Carcinoma 20208132 ClinVar
Mental depression Depressive disorder ClinVar
Non-Syndromic Intellectual Disability autosomal recessive non-syndromic intellectual disability GenCC
Diabetes Diabetes GWAS
Associations from Text Mining
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