SMARCD2
Function
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:22952240, PubMed:26601204). Critical regulator of myeloid differentiation, controlling granulocytopoiesis and the expression of genes involved in neutrophil granule formation (PubMed:28369036).
Involvement in disease
Specific granule deficiency 2
SGD2
A form of specific granule deficiency, an autosomal recessive disorder characterized by recurrent pyogenic infections, defective neutrophil chemotaxis and bactericidal activity, and lack of neutrophil secondary granule proteins. SGD2 is due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Ubiquitinated through a signaling process involving RAC1 and the RING finger protein UNKL.
Sequence Similarities
Belongs to the SMARCD family.
Tissue Specificity
Isoform 2 is expressed in the pancreas.
Cellular localization
- Nucleus
Alternative names
BAF60B, PRO2451, SMARCD2, SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2, 60 kDa BRG-1/Brm-associated factor subunit B, BRG1-associated factor 60B