Entrez Gene ID | 8738 |
---|---|
Official Gene Symbol | CRADD (GeneCards) |
Full name | CASP2 and RIPK1 domain containing adaptor with death domain |
Location | 12q22 |
Other ids | Vega : OTTHUMG00000170322 MIM : 603454 HGNC : HGNC:2340 Ensembl : ENSG00000169372 |
Other names | MRT34, RAIDD |
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 apoptosis. A mutation in this gene was associated with cognitive disability. A related pseudogene is found on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] |
Found 7 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
16103 | 8738 | CRADD | 12 | 94286222 | 94286222 | Asymptomatic | HiSeq X Ten |
16295 | 8738 | CRADD | 12 | 94145417 | 94145417 | Asymptomatic | HiSeq X Ten |
16331 | 8738 | CRADD | 12 | 94383738 | 94383738 | Asymptomatic | HiSeq X Ten |
16366 | 8738 | CRADD | 12 | 94161338 | 94161338 | Asymptomatic | HiSeq X Ten |
16611 | 8738 | CRADD | 12 | 94347292 | 94347292 | Asymptomatic | HiSeq X Ten |
16699 | 8738 | CRADD | 12 | 94500486 | 94500486 | Asymptomatic | HiSeq X Ten |
16949 | 8738 | CRADD | 12 | 94388645 | 94388645 | Cockayne syndrome | HiSeq X Ten |