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

2003-06-01  

Identity

HGNC
CRADD
LOCATION
12q22
LOCUSID
8738
ALIAS
MRT34,RAIDD
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
222795242012Genetic mapping and exome sequencing identify variants associated with five novel diseases.97
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.19
206770142010An approach based on a genome-wide association study reveals candidate loci for narcolepsy.16
277734302016Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.12
164340542006Crystal structure of RAIDD death domain implicates potential mechanism of PIDDosome assembly.11
204067012010Identification and analysis of dominant negative mutants of RAIDD and PIDD.7
173298202007Crystallization and preliminary X-ray crystallographic studies of the oligomeric death-domain complex between PIDD and RAIDD.6
202081322010PIDDosome expression and the role of caspase-2 activation for chemotherapy-induced apoptosis in RCCs.5
286863572017Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly.5

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