SMARCD2

The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]

Full Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2

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).

Biological Process

Biological Process chromatin remodelingManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process nucleosome disassemblyManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process positive regulation of cell differentiation2 PublicationsIC:ComplexPortal
Biological Process positive regulation of double-strand break repair2 PublicationsIC:ComplexPortal
Biological Process positive regulation of myoblast differentiation2 PublicationsIC:ComplexPortal
Biological Process positive regulation of T cell differentiation1 PublicationIC:ComplexPortal
Biological Process regulation of G0 to G1 transition1 PublicationIC:ComplexPortal
Biological Process regulation of G1/S transition of mitotic cell cycle1 PublicationIC:ComplexPortal
Biological Process regulation of mitotic metaphase/anaphase transition2 PublicationsIC:ComplexPortal
Biological Process regulation of nucleotide-excision repair1 PublicationIC:ComplexPortal
Biological Process regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Nucleus

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.

PTM

Ubiquitinated through a signaling process involving RAC1 and the RING finger protein UNKL.