CNOT2 CCR4-NOT transcription complex subunit 2
Gene ID: 4848, updated on 3-Apr-2024Gene type: protein coding
Also known as: NOT2; CDC36; NOT2H; HSPC131; IDNADFS
- See all available tests in GTR for this gene
- Go to complete Gene record for CNOT2
- Go to Variation Viewer for CNOT2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. GeneReviews: Not available | |
| Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2022-11-08) ClinGen Genome Curation PageHaploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2022-11-08) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 12q15
- Sequence:
- Chromosome: 12; NC_000012.12 (70243018..70354993)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CNOT2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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