SMARCD2 Chromosome 17
SWI/SNF related BAF chromatin remodeling complex subunit D2
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What This Gene Does
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, Jul 2008]
Gene Info
Gene Group
"BAF complex subunits|PBAF complex subunits|GBAF complex subunits"
Locus Type
gene with protein product
Location
17q23.3
Ensembl
ENSG00000108604
Associated Conditions (5)
Premature ovarian insufficiency
Specific granule deficiency 2
Specific granule deficiency 1
Autosomal recessive severe congenital neutropenia
SMARCD2-related disorder
Key Variants
RS1379892630
Conflicting classifications of pathogenicity
Premature ovarian insufficiency, Specific granule deficiency 2, Premature ovarian insufficiency
Health Risk
RS777862375
Conflicting classifications of pathogenicity
Health Risk
RS112986541
Likely pathogenic
Specific granule deficiency 2, Specific granule deficiency 2
Health Risk
RS2040280183
Likely pathogenic
Specific granule deficiency 2, Specific granule deficiency 2
Health Risk
RS2144630306
Likely pathogenic
Specific granule deficiency 2, Specific granule deficiency 2
Health Risk
RS2511436930
Likely pathogenic
Health Risk
RS2511445744
Likely pathogenic
Health Risk
RS2511450718
Likely pathogenic
Health Risk
RS1057518731
Pathogenic
Specific granule deficiency 2, Specific granule deficiency 1, Autosomal recessive severe congenital neutropenia
Health Risk
RS1057518733
Pathogenic
Specific granule deficiency 1, Autosomal recessive severe congenital neutropenia, Specific granule deficiency 2
Health Risk
RS1166557936
Pathogenic
Health Risk
RS1215296259
Pathogenic
Health Risk
All Variants (26)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1379892630 | Health Risk | Conflicting classifications of pathogenicity | Premature ovarian insufficiency, Specific granule deficiency 2, Premature ovarian insufficiency |
| RS777862375 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS112986541 | Health Risk | Likely pathogenic | Specific granule deficiency 2, Specific granule deficiency 2 |
| RS2040280183 | Health Risk | Likely pathogenic | Specific granule deficiency 2, Specific granule deficiency 2 |
| RS2144630306 | Health Risk | Likely pathogenic | Specific granule deficiency 2, Specific granule deficiency 2 |
| RS2511436930 | Health Risk | Likely pathogenic | — |
| RS2511445744 | Health Risk | Likely pathogenic | — |
| RS2511450718 | Health Risk | Likely pathogenic | — |
| RS1057518731 | Health Risk | Pathogenic | Specific granule deficiency 2, Specific granule deficiency 1, Autosomal recessive severe congenital neutropenia |
| RS1057518733 | Health Risk | Pathogenic | Specific granule deficiency 1, Autosomal recessive severe congenital neutropenia, Specific granule deficiency 2 |
| RS1166557936 | Health Risk | Pathogenic | — |
| RS1215296259 | Health Risk | Pathogenic | — |
| RS1339630793 | Health Risk | Pathogenic | — |
| RS1423900007 | Health Risk | Pathogenic | — |
| RS1555580263 | Health Risk | Pathogenic | Specific granule deficiency 1, Autosomal recessive severe congenital neutropenia, Specific granule deficiency 2 |
| RS1567760022 | Health Risk | Pathogenic | Specific granule deficiency 2, Specific granule deficiency 2 |
| RS2040215627 | Health Risk | Pathogenic | — |
| RS2040253304 | Health Risk | Pathogenic | — |
| RS2144625404 | Health Risk | Pathogenic | — |
| RS2144625913 | Health Risk | Pathogenic | — |
| RS2144626634 | Health Risk | Pathogenic | — |
| RS2144633398 | Health Risk | Pathogenic | Specific granule deficiency 2, Specific granule deficiency 2 |
| RS2144634829 | Health Risk | Pathogenic | — |
| RS2511442438 | Health Risk | Pathogenic | — |
| RS763321913 | Health Risk | Pathogenic | — |
| RS758123382 | Health Risk | Pathogenic/Likely pathogenic | Specific granule deficiency 2, SMARCD2-related disorder, Specific granule deficiency 2 |