CNOT3
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CNOT3 (HGNC:7879) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
CCR4-NOT transcription complex subunit 3
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
NOT3
Alias symbols
NOT3H, KIAA0691, LENG2
%HI
49.76(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.06(Read more about gnomAD LOEUF score)
Cytoband
19q13.42
Genomic Coordinates
GRCh37/hg19: chr19:54641478-54659419 NCBI Ensembl UCSC
GRCh38/hg38: chr19:54137762-54155681 NCBI Ensembl UCSC
MANE Select Transcript
NM_014516.4 ENST00000221232.11 (Read more about MANE Select)
Function
Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. May be involved in metabolic regulation; may be involved in recruitment of the CCR4-NOT complex to deadenylation target mRNAs i... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-28390
ClinGen Curation ID:
CCID:006891
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
06/27/2018

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
There are no publications at present describing germline CNOT3 deletions or other types of loss-of-function mutations. De Keersmaecker et al identified CNOT3 as a tumor suppressor mutated in 7.9% of adult T-ALLs, and its knockdown caused tumors in a sensitized Drosophila melanogaster model (PMID: 23263491). Richter-Pechańska et al. found CNOT3 mutations in pediatric T-ALL relapses (PMID: 28157215).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
There are no publications at present describing germline CNOT3 duplications.

Genomic View

Select assembly: (NC_000019.9) (NC_000019.10)