CNOT7

Chr 8

CCR4-NOT transcription complex subunit 7

ENSG00000198791 UniProt: Q9UIV1 OMIM: 604913

The CNOT7 protein is a catalytic component of the CCR4-NOT complex that functions as a 3'-5' poly(A) exoribonuclease, playing a central role in mRNA deadenylation, degradation, and translational regulation. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability and developmental delay. This gene is highly constrained against loss-of-function variants (pLI = 0.997), indicating that haploinsufficiency is likely not tolerated in the general population.

OMIM ResearchSummary from RefSeq, UniProt

Has 3'-5' poly(A) exoribonuclease activity for synthetic poly(A) RNA substrate (PubMed:19276069, PubMed:20634287, PubMed:31439799). Its function seems to be partially redundant with that of CNOT8 (PubMed:19605561). Catalytic 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 (PubMed:19276069, PubMed:20634287, PubMed:31439799). During miRNA-mediated repression the complex also seems to act as translational repressor during translational initiation (PubMed:20065043). Additional complex functions may be a consequence of its influence on mRNA expression (PubMed:19276069, PubMed:23236473). Associates with members of the BTG family such as TOB1 and BTG2 and is required for their anti-proliferative activity (PubMed:19276069, PubMed:23236473)

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.18

LOEUF· LoF intol.

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Mechanism

Some data sources returned errors (1)

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