SMARCC2 Gene Summary [Human]

The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which 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 and contains a predicted leucine zipper motif typical of many transcription factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
SMARCC2
Official Name
SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 [Source:HGNC Symbol;Acc:HGNC:11105]
Ensembl ID
ENSG00000139613
Bio databases IDs NCBI: 6601 Ensembl: ENSG00000139613
Aliases SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2
Synonyms 5930405J04RIK, BAF170, CRACC2, CSS8, LOC685179, Rsc8, SWI/SNF related BAF chromatin remodeling complex subunit C2
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SMARCC2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • transcription regulator
  • SWIRM-associated domain at the N-terminal
  • SWIRM-associated domain at the C-terminal
  • SWIRM domain
  • chromatin binding
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • Coffin-Siris syndrome type 8
  • renal clear cell adenocarcinoma
  • renal clear cell cancer
  • autosomal dominant mental retardation type 12
  • neurodevelopmental disorder
  • Coffin-Siris syndrome
  • mental retardation
regulated by
regulates
role in cell
  • expression in
  • migration
  • proliferation
  • survival
  • accumulation in
  • disassembly
  • disruption
  • invasion by
  • non-homologous end joining in
  • alternative splicing in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • interchromatin granule cluster fractions
  • nuclear fraction
  • Cytoplasm
  • nucleoplasm
  • detergent-soluble fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human SMARCC2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of mitotic metaphase/anaphase transition
  • nervous system development
  • positive regulation of cell differentiation
  • positive regulation of myoblast differentiation
  • regulation of nucleotide-excision repair
  • nucleosome disassembly
  • regulation of transcription from RNA polymerase II promoter
  • chromatin remodeling
  • negative regulation of transcription, DNA-dependent
  • positive regulation of transcription, DNA-dependent
  • positive regulation of T cell differentiation
  • regulation of G1/S transition of mitotic cell cycle
  • positive regulation of double-strand break repair
  • regulation of G0 to G1 transition

Cellular Component

Where in the cell the gene product is active
  • SWI/SNF complex
  • npBAF complex
  • nuclear matrix
  • macromolecular complex
  • nBAF complex
  • brahma complex
  • kinetochore
  • RSC complex
  • chromatin
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • transcription coactivator activity
  • histone binding
  • nucleosomal DNA binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.