SMARCD3
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3
Gene Information Card
| Symbol | SMARCD3 |
|---|---|
| Full Name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q36.1 |
| NCBI Gene ID | 6604 ncbi.nlm.nih.gov/gene/6604 |
| Ensembl ID | ENSG00000182054 |
| UniProt ID | Q6STE5 |
| OMIM ID | 601736 |
| HGNC ID | 11107 |
| Aliases | BAF60C, CRACD3, Rsc6p |
Description
SMARCD3 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3) encodes a protein that is a component of the SWI/SNF chromatin remodeling complex. This complex regulates gene expression by altering nucleosome positioning. SMARCD3 is involved in cell differentiation, proliferation, and development. Mutations and altered expression of SMARCD3 have been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Coffin-Siris syndrome | Loss-of-function mutations in SMARCD3 disrupt SWI/SNF complex function, leading to developmental abnormalities. | ClinVar, OMIM |
| Schwannomatosis | Somatic mutations in SMARCD3 are associated with schwannoma formation, possibly due to altered chromatin remodeling. | COSMIC, PubMed |
| Breast cancer | Overexpression of SMARCD3 may promote tumor growth by enhancing SWI/SNF activity at oncogenic targets. | NCBI Gene, PubMed |
| Lung cancer | SMARCD3 amplification or mutation contributes to oncogenesis through dysregulated chromatin remodeling. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Heart | 6.1 | Low |
| Liver | 2.4 | Low |
| Kidney | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | High expression |
| HeLa | 7.8 | Medium expression |
| A549 | 5.3 | Low expression |
| MCF7 | 9.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003C>T (p.Arg335*) | Nonsense | <0.1% | Loss of function; associated with Coffin-Siris syndrome |
| c.1546G>A (p.Gly516Arg) | Missense | <0.1% | Unknown significance; reported in schwannoma |
| c.2012_2013insA (p.Glu671fs) | Frameshift | <0.1% | Loss of function; reported in breast cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, impairing SWI/SNF complex assembly and chromatin remodeling.
Gain of Function (GOF)
Not well characterized; some missense mutations may alter protein interactions leading to enhanced activity.
Dominant Negative (DN)
Mutations that produce a truncated protein capable of interfering with wild-type SMARCD3 function in the SWI/SNF complex.
View complete mutation data：
Gene Ontology (GO)
| • chromatin remodeling | • nucleosome disassembly |
| • regulation of transcription by RNA polymerase II | • SWI/SNF complex |
| • nucleus | • protein binding |
Pathways
• Chromatin organization
• SWI/SNF complex-mediated nucleosome remodeling
• Transcriptional regulation by the SWI/SNF complex
Protein Summary
SMARCD3 (BAF60C) is a 60 kDa protein component of the SWI/SNF chromatin remodeling complex. It contains a SWIB domain and interacts with other complex subunits to facilitate ATP-dependent nucleosome repositioning. The protein is involved in cell lineage specification, myogenesis, and neuronal development. Its expression is regulated in a tissue-specific manner, with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SMARCD3 Knockout HEK293 Cell Line | EDJ-KQ15362 | Human | 6604 | Details Get a Quote |
| SMARCD3 Knockout HCT 116 Cell Line | EDJ-KQ46102 | Human | 6604 | Details Get a Quote |
| SMARCD3 Knockout HeLa Cell Line | EDJ-KQ46103 | Human | 6604 | Details Get a Quote |
| SMARCD3 Knockout A-549 Cell Line | EDJ-KQ44869 | Human | 6604 | Details Get a Quote |
