SMARCA4 Back

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4

External References: Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of SMARCA4

The protein encoded by this gene is a member of the SWI/SNF family of proteins and is 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. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene.

Community Annotation of SMARCA4 Add / Edit SMARCA4: Annotations

No community annotations yet for SMARCA4.

Sort mutations by: Tumor type Mutation type Position

Straightedge cursor Expand

Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).