Entity Details

Primary name CRADD
Entity type gene
Source Source Link

Details

PrimaryID8738
RefseqGeneNG_032159
SymbolCRADD
NameCASP2 and RIPK1 domain containing adaptor with death domain
Chromosome12
Location12q22
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-05-07
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCRADD_HUMAN

GO terms

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GOName
GO:0002020 protease binding
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors
GO:0030674 protein-macromolecule adaptor activity
GO:0042981 regulation of apoptotic process
GO:0043065 positive regulation of apoptotic process
GO:0070513 death domain binding
GO:0071260 cellular response to mechanical stimulus
GO:0097190 apoptotic signaling pathway
GO:2001235 positive regulation of apoptotic signaling pathway

Diseases

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Disease IDSourceNameDescription
614499 OMIMMental retardation, autosomal recessive 34, with variant lissencephaly (MRT34)A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT34 is a non-syndromic form. Affected individuals have mildly delayed development and significantly impaired cognitive function, precluding independent living and self-care. Speech is rudimentary, but articulate; autism is not present. The disease is caused by variants affecting the gene represented in this entry.