• 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)