CRADD |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CRADD (HGNC:2340) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- CASP2 and RIPK1 domain containing adaptor with death domain
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- RAIDD
- %HI
- 41.34(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.88(Read more about gnomAD pLI score)
- LOEUF
- 0.44(Read more about gnomAD LOEUF score)
- Cytoband
- 12q22
- Genomic Coordinates
-
GRCh37/hg19: chr12:94071151-94288616 NCBI Ensembl UCSC GRCh38/hg38: chr12:93677375-93894840 NCBI Ensembl UCSC - MANE Select Transcript
- NM_003805.5 ENST00000332896.8 (Read more about MANE Select)
- Function
- Adapter protein that associates with PIDD1 and the caspase CASP2 to form the PIDDosome, a complex that activates CASP2 and triggers apoptosis (PubMed:9044836, PubMed:15073321, PubMed:16652156, PubMed:17159900, PubMed:17289572). Also recruits CASP2 to the TNFR-1 signaling complex through its interaction with RIPK1 and TRADD and may play a role in the tumor necrosis factor-mediated signaling pathway (PubMed:8985253). {ECO:0000269|PubMed:15073321, ECO:0000269|PubMed:16652156, ECO:0000269|PubMed:171... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-2375
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- intellectual disability, autosomal recessive 34 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000012.11)
(NC_000012.12)