SMARCD2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2)
2003-05-01 AffiliationIdentity
HGNC
LOCATION
17q23.3
LOCUSID
ALIAS
BAF60B,CRACD2,PRO2451,Rsc6p,SGD2
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: 6603
MIM: 601736
HGNC: 11107
Ensembl: ENSG00000108604
Variants:
dbSNP: 6603
ClinVar: 6603
TCGA: ENSG00000108604
COSMIC: SMARCD2
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 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33025377 | 2021 | Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis. | 2 |
| 33279574 | 2021 | Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2. | 4 |
| 33025377 | 2021 | Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis. | 2 |
| 33279574 | 2021 | Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2. | 4 |
| 28369034 | 2017 | SMARCD2 subunit of SWI/SNF chromatin-remodeling complexes mediates granulopoiesis through a CEBPɛ dependent mechanism. | 33 |
| 28369036 | 2017 | Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes. | 41 |
| 28369034 | 2017 | SMARCD2 subunit of SWI/SNF chromatin-remodeling complexes mediates granulopoiesis through a CEBPɛ dependent mechanism. | 33 |
| 28369036 | 2017 | Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes. | 41 |
| 26571505 | 2015 | SWI/SNF Subunits SMARCA4, SMARCD2 and DPF2 Collaborate in MLL-Rearranged Leukaemia Maintenance. | 10 |
| 26571505 | 2015 | SWI/SNF Subunits SMARCA4, SMARCD2 and DPF2 Collaborate in MLL-Rearranged Leukaemia Maintenance. | 10 |
| 20148946 | 2010 | The SWI/SNF protein BAF60b is ubiquitinated through a signalling process involving Rac GTPase and the RING finger protein Unkempt. | 15 |
| 20148946 | 2010 | The SWI/SNF protein BAF60b is ubiquitinated through a signalling process involving Rac GTPase and the RING finger protein Unkempt. | 15 |
Citation
Dessen P
SMARCD2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2)
Atlas Genet Cytogenet Oncol Haematol. 2003-05-01
