Gene Facts External Data Attribution

HGNC Symbol
CUL3 (HGNC:2553) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
cullin 3
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
4.57(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.23(Read more about gnomAD LOEUF score)
Cytoband
2q36.2
Genomic Coordinates
GRCh37/hg19: chr2:225334867-225450080 NCBI Ensembl UCSC
GRCh38/hg38: chr2:224470150-224585363 NCBI Ensembl UCSC
MANE Select Transcript
NM_003590.5 ENST00000264414.9 (Read more about MANE Select)
Function
Core component of multiple cullin-RING-based BCR (BTB-CUL3- RBX1) E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. BCR complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins (PubMed:27565346). As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin- protein ligase activity of the complex is dependent... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-10681
Curation Status:
Under Group Review
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Under Group Review
Triplosensitivity:
Under Group Review
Last Evaluated:
Under Group Review

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)