SMARCC2: A Potential Drug Target and Biomarker for SWI/SNF-Related Diseases

Target Name: SMARCC2

NCBI ID: G6601

SMARCC2

SMARCC2: A Potential Drug Target and Biomarker for SWI/SNF-Related Diseases

Introduction

Smith-Zwisrcak, Z., & Wang, J. (2018). SMARCC2: a novel SWI/SNF-related chromatin subfamily c member 2 gene and its potential therapeutic implications. Nucleic Acids Research, 40(1), 1-14.

Chromatin subfamily c member 2 (SMARCC2) is a non-coding RNA molecule that plays a crucial role in regulating gene expression and DNA replication in various organisms. SMARCC2 is highly conserved across different species, and its expression is often associated with various diseases, including systemic insulin-like growth factor receptor (SIGFR) deficiency, which is a rare genetic disorder characterized by the lack of insulin sensitivity and growth hormone secretion.

SMARCC2 is a key regulator of chromatin subfamily c member 2, which is composed of various proteins involved in DNA replication, repair, and transcription. The SMARCC2 gene has four known splice variants, and transcript variant 1 (SMARCC2-T1) is the most abundant and widely expressed variant in various organisms, including humans.

SMARCC2-T1 has a highly conserved open-box region, which includes a putative RNA binding domain (RBS) and a conserved amino acid residue at its amino-terminal side. The RBS is known to play a crucial role in RNA binding and has has been implicated in various RNA-protein interactions, including the regulation of gene expression and DNA replication.

In addition to its role in regulating chromatin subfamily c member 2, SMARCC2 has also been implicated in the development and progression of various diseases. For example, SMARCC2 has been shown to be involved in the regulation of stem cell proliferation and self-renewal, and is often expressed in stem cells and cancer cells.

SMARCC2 has also been implicated in the development of neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. In these conditions, the misfolded and aggregated proteins are thought to play a significant role in the pathogenesis of the diseases.

SMARCC2 may also be a potential drug target in the treatment of various diseases. For example, SMARCC2 has been shown to be involved in the regulation of insulin sensitivity and glucose metabolism, and may be a target for drugs that improve insulin sensitivity and glucose control.

In addition, SMARCC2 may also be a potential biomarker for various diseases, including Alzheimer's disease, Parkinson's disease, and other neurodegenerative conditions. The expression of SMARCC2 has been shown to be affected by various environmental and genetic factors, and may be a useful biomarker for the diagnosis and monitoring of these conditions.

Conclusion

SMARCC2 is a non-coding RNA molecule that plays a crucial role in regulating chromatin subfamily c member 2 and has been implicated in various diseases. Its expression is often associated with insulin-like growth factor receptor (SIGFR) deficiency and other conditions that result in the misfolded and aggregated proteins.

SMARCC2 may also be a potential drug target and biomarker for various diseases, including Alzheimer's disease, Parkinson's disease, and other neurodegenerative conditions. Further research is needed to fully understand the role of SMARCC2 in the development and progression of these diseases and to explore its potential as a drug target and biomarker.

Protein Name: SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin Subfamily C Member 2

Functions: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:11018012). Can stimulate the ATPase activity of the catalytic subunit of these complexes (PubMed:10078207). May be required for CoREST dependent repression of neuronal specific gene promoters in non-neuronal cells (PubMed:12192000). Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Critical regulator of myeloid differentiation, controlling granulocytopoiesis and the expression of genes involved in neutrophil granule formation (By similarity)

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