Version: 8.0.0Date: Tue Jan 28 2025
Gene
SMARCA4
- Species
- Homo sapiens
- Symbol
- SMARCA4
- Name
- SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
- Synonyms
- ATP-dependent helicase SMARCA4
- BAF190
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including DNA polymerase binding activity; RNA polymerase II-specific DNA-binding transcription factor binding activity; and transcription coregulator activity. Contributes to RNA polymerase I core promoter sequence-specific DNA binding activity. Involved in several processes, including nucleosome disassembly; regulation of DNA-templated transcription; and regulation of signal transduction. Located in chromatin; fibrillar center; and nucleoplasm. Part of SWI/SNF complex and npBAF complex. Implicated in Coffin-Siris syndrome 4; hepatocellular carcinoma; lung non-small cell carcinoma; and rhabdoid tumor predisposition syndrome 2. Biomarker of prostate cancer.
- RGD Description
- 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. [provided by RefSeq, May 2012]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR16062
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr19:10960932...11079426 + (118.49 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.