Developmental Brain Disorder Gene Database
Missense Gene
Gene
Search
Missense
- Unique Cases:
- 8
- Disorders:
- ID, ASD, EP
- Last Updated:
- January 4, 2024
Gene Summary:
- Gene 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)
- Previous symbols
- NOT3
- Alias symbols
- NOT3H, KIAA0691, LENG2
- Chromosomal Location
- 19q13.42
- Genomic Coordinates
- GRCh37:chr19:54641436-54659446
- GRCh38:chr19:54137689-54155690
- Associated Disorders
- Intellectual Disability, Autism, Epilepsy
Cases:
Publications:
Arteche-López A et. al., Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test., Genes (Basel), 2021 |
et. al., , , |
External References:
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NCBI: Gene
Integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.
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Gene Reviews
An international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.
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DECIPHER
DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) is an interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants.
DECIPHER enhances clinical diagnosis by retrieving information from a variety of bioinformatics resources relevant to the variant found in the patient.
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SFARI
SFARI Gene is an evolving online database designed to permit quick entrée into the genetics of autism, and to help researchers track the ever-expanding genetic risk factors that emerge in the literature.
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ClinGen
ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.
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GenCC
The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases.
![gnomAD](https://dbd.geisingeradmi.org/external-resources/gnomad.jpeg)
gnomAD
The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.