SMARCC2 (BAF170) – Chromatin Remodeling Subunit in Development and Disease
A core component of the SWI/SNF chromatin remodeling complex, SMARCC2 regulates gene expression and is implicated in neurodevelopmental disorders and cancer.
Gene Information Card
| Symbol | SMARCC2 |
|---|---|
| Full Name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 |
| Gene Type | protein coding |
| Chromosomal Location | 10q25.2 (GRCh38) |
| NCBI Gene ID | 6601 ncbi.nlm.nih.gov/gene/6601 |
| Ensembl ID | ENSG00000139613 |
| UniProt ID | Q92922 |
| OMIM ID | 601734 |
| HGNC ID | 11104 |
| Aliases | BAF170, CRACC2, Rsc8, SWI3, SMARCC2 |
Description
SMARCC2 encodes BAF170, a core subunit of the SWI/SNF (BAF) chromatin remodeling complex. This complex uses ATP hydrolysis to alter nucleosome structure, thereby regulating transcription, DNA repair, and cell differentiation. SMARCC2 is essential for normal development, particularly of the brain and heart, and its dysregulation is linked to Coffin-Siris syndrome-like phenotypes and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Coffin-Siris syndrome 7 | Pathogenic variants in SMARCC2 lead to haploinsufficiency or dominant-negative effects, impairing BAF complex function and gene regulation during development. | ClinVar; OMIM #601734; PMID: 31474318 |
| Neurodevelopmental disorder with hypotonia and impaired language | Missense and truncating mutations disrupt chromatin remodeling, affecting neuronal gene expression. | ClinVar; PMID: 31474318 |
| Colorectal cancer | SMARCC2 overexpression or mutation may alter BAF complex activity, promoting tumor progression. | COSMIC; PMID: 29348641 |
| Hepatocellular carcinoma | Dysregulation of SMARCC2 affects chromatin remodeling, influencing cell proliferation and metastasis. | COSMIC; PMID: 30530636 |
| Breast cancer | SMARCC2 expression changes correlate with tumor aggressiveness and poor prognosis. | COSMIC; PMID: 28270518 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.3 | Medium |
| Heart (left ventricle) | 8.7 | Low |
| Liver | 6.2 | Low |
| Kidney (cortex) | 9.1 | Low |
| Testis | 15.4 | Medium |
| Lung | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical cancer) | 14.2 | High expression |
| A549 (lung cancer) | 10.5 | Moderate |
| HepG2 (liver cancer) | 8.9 | Moderate |
| MCF7 (breast cancer) | 12.0 | High |
| K562 (leukemia) | 9.8 | Moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2083C>T (p.Arg695Ter) | Nonsense | Rare (0.01%) | Truncation leading to loss of function; associated with Coffin-Siris syndrome |
| c.1129G>A (p.Gly377Arg) | Missense | Not established | Alters protein structure; likely dominant-negative effect |
| c.2446A>G (p.Thr816Ala) | Missense | Somatic in cancer | May affect BAF complex stability; observed in colorectal cancer |
| c.1234_1235del (p.Lys412fs) | Frameshift | Rare | Loss of function; neurodevelopmental disorder |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature stop codons or truncated proteins that are degraded or non-functional, resulting in haploinsufficiency.
Gain of Function (GOF)
Not well documented; no clear gain-of-function mutations identified in SMARCC2.
Dominant Negative (DN)
Missense mutations in conserved domains may produce a protein that interferes with BAF complex assembly or function, exerting a dominant-negative effect.
View complete mutation data：
Gene Ontology (GO)
| • chromatin remodeling | • DNA binding |
| • nucleosome binding | • ATP-dependent chromatin remodeler activity |
| • regulation of transcription by RNA polymerase II | • cell differentiation |
| • nervous system development | • heart development |
Pathways
• SWI/SNF complex pathway
• Chromatin organization
• Transcriptional regulation by BAF complex
• Neural crest differentiation
• Cancer pathways (altered in various tumors)
Protein Summary
SMARCC2 encodes BAF170, a 170 kDa protein that is a core component of the SWI/SNF chromatin remodeling complex. BAF170 contains a SWIRM domain and a SANT domain, which are involved in protein-protein interactions and DNA binding. It plays a critical role in modulating chromatin structure, thereby regulating gene expression programs essential for development and differentiation. Mutations in SMARCC2 are associated with neurodevelopmental disorders and cancer, highlighting its importance in cellular homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SMARCC2 Knockout HEK293 Cell Line | EDJ-KQ5808 | Human | 6601 | Details Get a Quote |
| SMARCC2 Knockout A-549 Cell Line | EDJ-KQ29227 | Human | 6601 | Details Get a Quote |
| SMARCC2 Knockout HCT 116 Cell Line | EDJ-KQ29228 | Human | 6601 | Details Get a Quote |
| SMARCC2 Knockout HeLa Cell Line | EDJ-KQ29229 | Human | 6601 | Details Get a Quote |
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