CNOT3

Chr 19q13.42

CCR4-NOT transcription complex subunit 3

Aliases:: NOT3H, KIAA0691, LENG2
MANE:: ENST00000221232.11

OMIM: 604910 ↗NCBI: 4849 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

CNOT3 · O75175

v62025-08-01

Predicted Aligned Error matrix for CNOT3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.4/ 100

Low

753 residues

Confidence breakdown

Very high(≥ 90)37%
Confident(70–90)10%
Low(50–70)6%
Very low(< 50)47%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebral vascular malformations
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

intellectual developmental disorder with speech delay, autism and dysmorphic facies
0.76
neurodegenerative disease
0.54
hereditary disease
0.52
complex neurodevelopmental disorder
0.46
neurodevelopmental disorder
0.37
T-cell acute lymphoblastic leukemia
0.37
colorectal adenocarcinoma
0.37
cutaneous melanoma
0.37
superficial spreading melanoma
0.37
nodular malignant melanoma
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

CCR4-NOT transcription complex subunit 3

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 involved in energy metabolism. Involved in mitotic progression and regulation of the spindle assembly checkpoint by regulating the stability of MAD1L1 mRNA. Can repress transcription and may link the CCR4-NOT complex to transcriptional regulation; the repressive function may involve histone deacetylases. Involved in the maintenance of embryonic stem (ES) cell identity