SMARCC2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2)
2003-05-01 AffiliationIdentity
HGNC
LOCATION
12q13.2
LOCUSID
ALIAS
BAF170,CRACC2,CSS8,Rsc8
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6601
MIM: 601734
HGNC: 11105
Ensembl: ENSG00000139613
Variants:
dbSNP: 6601
ClinVar: 6601
TCGA: ENSG00000139613
COSMIC: SMARCC2
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Chromatin organization | REACTOME | R-HSA-4839726 |
| Chromatin modifying enzymes | REACTOME | R-HSA-3247509 |
| RMTs methylate histone arginines | REACTOME | R-HSA-3214858 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37348029 | 2023 | FBXO28 promotes proliferation, invasion, and metastasis of pancreatic cancer cells through regulation of SMARCC2 ubiquitination. | 2 |
| 37551667 | 2023 | Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals. | 1 |
| 37348029 | 2023 | FBXO28 promotes proliferation, invasion, and metastasis of pancreatic cancer cells through regulation of SMARCC2 ubiquitination. | 2 |
| 37551667 | 2023 | Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals. | 1 |
| 34881817 | 2022 | Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients. | 1 |
| 36418306 | 2022 | SMARCC2 mediates the regulation of DKK1 by the transcription factor EGR1 through chromatin remodeling to reduce the proliferative capacity of glioblastoma. | 2 |
| 34881817 | 2022 | Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients. | 1 |
| 36418306 | 2022 | SMARCC2 mediates the regulation of DKK1 by the transcription factor EGR1 through chromatin remodeling to reduce the proliferative capacity of glioblastoma. | 2 |
| 34080022 | 2021 | SMARCC2 combined with c‑Myc inhibits the migration and invasion of glioma cells via modulation of the Wnt/β‑catenin signaling pathway. | 2 |
| 34080022 | 2021 | SMARCC2 combined with c‑Myc inhibits the migration and invasion of glioma cells via modulation of the Wnt/β‑catenin signaling pathway. | 2 |
| 31819260 | 2020 | The functional landscape of the human phosphoproteome. | 156 |
| 31819260 | 2020 | The functional landscape of the human phosphoproteome. | 156 |
| 30580808 | 2019 | Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. | 41 |
| 30580808 | 2019 | Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. | 41 |
| 27190130 | 2016 | The Swi3 protein plays a unique role in regulating respiration in eukaryotes. | 1 |
Citation
Dessen P
SMARCC2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2)
Atlas Genet Cytogenet Oncol Haematol. 2003-05-01
Online version: http://atlasgeneticsoncology.org/gene/42335/smarcc2
