SMARCA5 SNF2 related chromatin remodeling ATPase 5
Gene ID: 8467, updated on 14-Nov-2024Gene type: protein coding
Also known as: ISWI; SNF2H; hISWI; hSNF2H; WCRF135
- See all available tests in GTR for this gene
- Go to complete Gene record for SMARCA5
- Go to Variation Viewer for SMARCA5 variants
Summary
The protein encoded by this gene is a member of the SWI/SNF family of proteins. 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 protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein. [provided by RefSeq, Jul 2008]
Genomic context
- Location:
- 4q31.21
- Sequence:
- Chromosome: 4; NC_000004.12 (143513702..143557486)
- Total number of exons:
- 24
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SMARCA5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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