CNOT2 Chromosome 12
CCR4-NOT transcription complex subunit 2
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What This Gene Does
This gene encodes a subunit of the multi-component CCR4-NOT complex. The CCR4-NOT complex regulates mRNA synthesis and degradation and is also thought to be involved in mRNA splicing, transport and localization. The encoded protein interacts with histone deacetylases and functions as a repressor of polymerase II transcription. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]
Gene Info
Gene Group
CCR4-NOT transcription complex
Locus Type
gene with protein product
Location
12q15
Ensembl
ENSG00000111596
Associated Conditions (5)
Neurodevelopmental disorder
Intellectual developmental disorder with nasal speech
dysmorphic facies
and variable skeletal anomalies
Inborn genetic diseases
Key Variants
RS35192504
Conflicting classifications of pathogenicity
Health Risk
RS2136104001
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS1593269476
Pathogenic
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
Health Risk
RS2499156703
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS35192504 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2136104001 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS1593269476 | Health Risk | Pathogenic | Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies |
| RS2499156703 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |