Developmental Brain Disorder Gene Database
LoF Variant Gene
Gene
Search
Tier
1
SMARCC2
HGNC:11105 (protein-coding gene)
SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2
- Unique Cases:
- 13
- Disorders:
- ID, ASD, SCZ
- Last Updated:
- January 24, 2024
Gene Summary:
- DBD Genes Classification
- SMARCC2 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
- Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:11018012). Can stimulate the ATPase activity of the catalytic subunit of these complexes (PubMed:10078207). May be required for CoREST dependent repression... (Source: Uniprot)
- Previous symbols
- No previous symbols
- Alias symbols
- BAF170, Rsc8, CRACC2
- Chromosomal Location
- 12q13.2
- Genomic Coordinates
- GRCh37:chr12:56556143-56583358
- GRCh38:chr12:56162359-56189504
- Associated Disorders
- Intellectual Disability, Autism
Predictive Scores:
- HI Score (Decipher)
20.29
- pLI (gnomAD)
1.00
- LOEUF (gnomAD)
0.12
Classifications from External Sources:
- SFARI Score (SFARI)
1
- DDG2P Classification (DDG2P)
No Classification
- ClinGen Classification (ClinGen)
Definitive1
- GenCC Classification (GenCC)
Supportive1 Moderate1 Strong1 Definitive2
Cases:
Publications:
Howrigan DP et. al., Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations., Nat Neurosci, 2020 |
Wang T et. al., Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders., Nat Commun, 2020 |
Zhu X et. al., Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios., Genet Med, 2015 |
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 |
Wang T et. al., De novo genic mutations among a Chinese autism spectrum disorder cohort., Nat Commun, 2016 |
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.
![SFARI](https://dbd.geisingeradmi.org/external-resources/SFARI_Logo_2.jpeg)
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.
![ClinGen](https://dbd.geisingeradmi.org/external-resources/logo.png)
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.
![GenCC](https://dbd.geisingeradmi.org/external-resources/genecc-logo.jpeg)
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.