SMARCD2

Chr 17q23.3

SWI/SNF related BAF chromatin remodeling complex subunit D2

Aliases:: BAF60B, Rsc6p, CRACD2, PRO2451
MANE:: ENST00000448276.7

OMIM: 601736 ↗NCBI: 6603 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

SMARCD2 · Q92925

v62025-08-01

Predicted Aligned Error matrix for SMARCD2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

76.1/ 100

Confident

531 residues

Confidence breakdown

Very high(≥ 90)54%
Confident(70–90)14%
Low(50–70)4%
Very low(< 50)28%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Rare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Recurrent infection due to specific granule deficiency
0.70
autosomal recessive severe congenital neutropenia
0.45
hereditary disease
0.19
Premature ovarian insufficiency
0.11
metabolic syndrome
0.11
metabolic dysfunction-associated steatotic liver disease
0.06
fatty liver disease
0.05
neuroblastoma
0.05
Hepatic steatosis
0.04
Blackfan-Diamond anemia
0.04

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2

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)