CRADD (CASP2 and RIPK1 domain containing adaptor with death domain)

2003-06-01  

Identity

HGNC
LOCATION
12q22
LOCUSID
ALIAS
MRT34,RAIDD
FUSION GENES

Other Information

Locus ID:

NCBI: 8738
MIM: 603454
HGNC: 2340
Ensembl: ENSG00000169372

Variants:

dbSNP: 8738
ClinVar: 8738
TCGA: ENSG00000169372
COSMIC: CRADD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169372ENST00000332896P78560
ENSG00000169372ENST00000332896Q53XL1
ENSG00000169372ENST00000542893P78560
ENSG00000169372ENST00000542893Q53XL1
ENSG00000169372ENST00000548483F5H7C2
ENSG00000169372ENST00000551065P78560
ENSG00000169372ENST00000552033F8VV49
ENSG00000169372ENST00000552983F8VVY5

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
TP53 Regulates Transcription of Cell Death GenesREACTOMER-HSA-5633008
TP53 Regulates Transcription of Caspase Activators and CaspasesREACTOMER-HSA-6803207

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
336474552021CRADD and USP44 mutations in intellectual disability, mild lissencephaly, brain atrophy, developmental delay, strabismus, behavioural problems and skeletal anomalies.5
336474552021CRADD and USP44 mutations in intellectual disability, mild lissencephaly, brain atrophy, developmental delay, strabismus, behavioural problems and skeletal anomalies.5
309148282019Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.10
309148282019Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.10
286863572017Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly.11
286863572017Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly.11
276064662016RAIDD Mediates TLR3 and IRF7 Driven Type I Interferon Production.3
277734302016Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.29
276064662016RAIDD Mediates TLR3 and IRF7 Driven Type I Interferon Production.3
277734302016Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.29
249587272014The adaptor CRADD/RAIDD controls activation of endothelial cells by proinflammatory stimuli.6
249587272014The adaptor CRADD/RAIDD controls activation of endothelial cells by proinflammatory stimuli.6
222795242012Genetic mapping and exome sequencing identify variants associated with five novel diseases.145
222795242012Genetic mapping and exome sequencing identify variants associated with five novel diseases.145
202081322010PIDDosome expression and the role of caspase-2 activation for chemotherapy-induced apoptosis in RCCs.6

Citation

Dessen P

CRADD (CASP2 and RIPK1 domain containing adaptor with death domain)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/40144/cradd