SMARCA2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin, Subfamily A, Member 2)
A core ATPase of the SWI/SNF chromatin remodeling complex, implicated in neurodevelopmental disorders and cancer.
Gene Information Card
| Symbol | SMARCA2 |
|---|---|
| Full Name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
| Gene Type | protein coding |
| Chromosomal Location | 9p24.3 |
| NCBI Gene ID | 6595 ncbi.nlm.nih.gov/gene/6595 |
| Ensembl ID | ENSG00000080503 |
| UniProt ID | P51531 |
| OMIM ID | 600014 |
| HGNC ID | 11098 |
| Aliases | BRM, Sth1p, BAF190, hBRM, SNF2L2, SWI2 |
Description
SMARCA2 encodes BRM, a catalytic ATPase subunit of the SWI/SNF chromatin remodeling complex. This complex uses ATP hydrolysis to alter nucleosome positioning, thereby regulating gene expression. SMARCA2 is essential for normal development and cellular differentiation, and its dysfunction is linked to neurodevelopmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nicolides-Baraitser syndrome | Heterozygous loss-of-function mutations in SMARCA2 lead to haploinsufficiency, disrupting chromatin remodeling and gene expression during development. | ClinVar, OMIM |
| Coffin-Siris syndrome | Similar to NCBRS, mutations in SMARCA2 (and other SWI/SNF subunits) cause syndromic intellectual disability with characteristic facial features and hypoplastic nails. | ClinVar, OMIM |
| Cancer | SMARCA2 is frequently mutated in various cancers, acting as a tumor suppressor. Loss of SMARCA2 expression can promote tumor progression, and its synthetic lethal relationship with SMARCA4 is being explored therapeutically. | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Lung | 10.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 7.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical cancer cell line |
| A549 | 12.3 | Lung carcinoma |
| MCF7 | 9.8 | Breast cancer |
| HepG2 | 7.2 | Liver cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg853* | Nonsense | Rare | Loss of function, leading to haploinsufficiency in NCBRS |
| p.Gly1142Asp | Missense | Rare | Dominant negative effect, disrupting ATPase activity |
| p.Val1195Leu | Missense | Rare | Likely pathogenic, affecting protein stability |
| c.3457-2A>G | Splice site | Rare | Aberrant splicing, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most SMARCA2 mutations in NCBRS and cancer are loss-of-function, leading to reduced protein levels or activity.
Gain of Function (GOF)
Gain-of-function mutations are not well-documented; SMARCA2 primarily acts as a tumor suppressor.
Dominant Negative (DN)
Some missense mutations in the ATPase domain may exert a dominant-negative effect, interfering with the function of the wild-type allele.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • DNA binding |
| • chromatin binding | • helicase activity |
| • nucleosome remodeling | • transcription regulation |
Pathways
• Chromatin organization
• SWI/SNF complex
• Transcriptional regulation by chromatin remodeling
Protein Summary
The SMARCA2 protein (BRM) is a 1590-amino acid ATPase that forms the core of the SWI/SNF chromatin remodeling complex. It contains a helicase/ATPase domain, a bromodomain, and a HSA domain. BRM regulates gene expression by altering nucleosome positioning, thereby controlling access of transcription factors to DNA. It is involved in cell cycle control, differentiation, and DNA repair.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SMARCA2 Knockout HEK293 Cell Line | EDJ-KQ15357 | Human | 6595 | Details Get a Quote |
| SMARCA2 Knockout A-549 Cell Line | EDJ-KQ17993 | Human | 6595 | Details Get a Quote |
| SMARCA2 Knockout HCT 116 Cell Line | EDJ-KQ46093 | Human | 6595 | Details Get a Quote |
| SMARCA2 Knockout HeLa Cell Line | EDJ-KQ46094 | Human | 6595 | Details Get a Quote |
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