Developmental Brain Disorder Gene Database
LoF Variant Gene
Gene
Search
Tier
1
CUL3
HGNC:2553 (protein-coding gene)
cullin 3
- Unique Cases:
- 13
- Disorders:
- ID, ASD
- Last Updated:
- January 24, 2024
Gene Summary:
- DBD Genes Classification
- CUL3 is a High Confidence candidate gene classified as Tier 1. Tier 1 genes have three or more de novo pathogenic loss-of-function variants.
- Gene Function
- Core component of multiple cullin-RING-based BCR (BTB-CUL3- RBX1) E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. BCR complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins (PubMed:27565346). As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin- protein ligase activity of the complex is dependent... (Source: Uniprot)
- Previous symbols
- No previous symbols
- Alias symbols
- No alias sybmols
- Chromosomal Location
- 2q36.2
- Genomic Coordinates
- GRCh37:chr2:225334867-225450114
- GRCh38:chr2:224470150-224585363
- Associated Disorders
- Intellectual Disability, Autism
Cases:
Publications:
Wang T et. al., Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders., Nat Commun, 2020 |
Iwafuchi S et. al., A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder., Brain Dev, 2021 |
De Rubeis S et. al., Synaptic, transcriptional and chromatin genes disrupted in autism., Nature, 2014 |
Coe BP et. al., Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity., Nat Genet, 2019 |
Guo H et. al., Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model., Mol Autism, 2018 |
Kong A et. al., Rate of de novo mutations and the importance of father's age to disease risk., Nature, 2012 |
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 |
External References:
![Medgen](https://dbd.geisingeradmi.org/external-resources/medgen.png)
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.
![Gene reviews](https://dbd.geisingeradmi.org/external-resources/gene_reviews.png)
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.
![Decipher](https://dbd.geisingeradmi.org/external-resources/decipher-logo-grch38.png)
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.
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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.