SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
Gene ID: 6595, updated on 5-Mar-2024Gene type: protein coding
Also known as: BIS; BRM; SNF2; SWI2; hBRM; NCBRS; Sth1p; BAF190; SNF2L2; SNF2LA; hSNF2a
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- Go to complete Gene record for SMARCA2
- Go to Variation Viewer for SMARCA2 variants
Summary
The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism. [provided by RefSeq, Jan 2014]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients. GeneReviews: Not available | |
Blepharophimosis-impaired intellectual development syndrome | See labs |
Common variants at 1p36 are associated with superior frontal gyrus volume. GeneReviews: Not available | |
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. GeneReviews: Not available | |
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. GeneReviews: Not available | |
Nicolaides-Baraitser syndrome | See labs |
Copy number response
Description |
---|
Copy number response Haploinsufficency No evidence available (Last evaluated 2013-03-27) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2013-03-27) ClinGen Genome Curation Page |
Genomic context
- Location:
- 9p24.3
- Sequence:
- Chromosome: 9; NC_000009.12 (2015347..2193624)
- Total number of exons:
- 38
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for SMARCA2 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SMARCA2 @ LOVD
- SNP: GeneViewSNPs linked from GeneView
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