SMARCD2
SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin, Subfamily D, Member 2
Gene Information Card
| Symbol | SMARCD2 |
|---|---|
| Full Name | SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin, Subfamily D, Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.1 |
| NCBI Gene ID | 6603 ncbi.nlm.nih.gov/gene/6603 |
| Ensembl ID | ENSG00000108604 |
| UniProt ID | Q92925 |
| OMIM ID | 601736 |
| HGNC ID | 11107 |
| Aliases | BAF60b, CRACD2, SMARCD2 |
Description
SMARCD2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin, Subfamily D, Member 2) encodes a protein that is a component of the SWI/SNF chromatin remodeling complex, also known as the BAF complex. This complex regulates gene expression by altering chromatin structure. SMARCD2 is specifically involved in hematopoietic stem cell differentiation and myeloid lineage development. Mutations in SMARCD2 cause a rare autosomal recessive disorder characterized by neutropenia, bone marrow failure, and developmental abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| SMARCD2 deficiency (neutropenia, bone marrow failure, developmental delay) | Loss-of-function mutations impair BAF complex assembly, disrupting hematopoietic differentiation and leading to myeloid maturation arrest. | OMIM #617475; PMID: 28111065 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 15.2 | Medium |
| Spleen | 10.8 | Medium |
| Lung | 8.5 | Low |
| Testis | 7.3 | Low |
| Brain | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 18.5 | High expression |
| HL-60 (promyeloblast) | 16.2 | High expression |
| HeLa (cervical carcinoma) | 9.8 | Medium expression |
| HEK293 (embryonic kidney) | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.502C>T (p.Arg168*) | Nonsense | Rare | Loss of function; premature truncation |
| c.1045C>T (p.Arg349Trp) | Missense | Rare | Loss of function; disrupts protein interaction |
| c.1186C>T (p.Arg396*) | Nonsense | Rare | Loss of function; premature truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish SMARCD2 protein function, leading to impaired BAF complex activity and hematopoietic defects.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • chromatin remodeling | • nucleosome disassembly |
| • regulation of transcription by RNA polymerase II | • hematopoietic stem cell differentiation |
| • myeloid cell differentiation |
Pathways
• SWI/SNF complex (BAF complex)
• Chromatin organization
• Hematopoiesis
Protein Summary
SMARCD2 (BAF60b) is a 60 kDa protein that contains a SWIB domain and is a core component of the ATP-dependent SWI/SNF chromatin remodeling complex. It mediates interactions between the complex and transcription factors, facilitating lineage-specific gene expression. In hematopoiesis, SMARCD2 is critical for myeloid differentiation; its loss leads to maturation arrest at the promyelocyte stage.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SMARCD2 Knockout HEK293 Cell Line | EDJ-KQ15361 | Human | 6603 | Details Get a Quote |
| SMARCD2 Knockout A-549 Cell Line | EDJ-KQ17992 | Human | 6603 | Details Get a Quote |
| SMARCD2 Knockout HCT 116 Cell Line | EDJ-KQ46099 | Human | 6603 | Details Get a Quote |
| SMARCD2 Knockout HeLa Cell Line | EDJ-KQ46100 | Human | 6603 | Details Get a Quote |
