SMARCA2 Chromosome 9
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2
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What This Gene Does
The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and 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, which is required for transcriptional activation of genes normally repressed by chromatin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism. [provided by RefSeq, Jan 2014]
Gene Info
Gene Group
"SNF2 related family|Bromodomain containing|BAF complex subunits|GBAF complex subunits"
Locus Type
gene with protein product
Location
9p24.3
Ensembl
ENSG00000080503
Associated Conditions (16)
SMARCA2-related BAFopathy
Vein of Galen aneurysmal malformation
Nicolaides-Baraitser syndrome
Inborn genetic diseases
Coffin Siris/Intellectual Disability
Blepharophimosis-impaired intellectual development syndrome
SMARCA2-related disorder
See cases
Neurodevelopmental delay
Intellectual disability
Blepharophimosis
Pituitary stalk interruption syndrome
Blepharophimosis - intellectual disability syndrome
Hirsutism
Nonpapillary renal cell carcinoma
Neurodevelopmental disorder
Key Variants
RS1471482709
association
SMARCA2-related BAFopathy, Vein of Galen aneurysmal malformation, SMARCA2-related BAFopathy
Health Risk
RS1046917367
Conflicting classifications of pathogenicity
Nicolaides-Baraitser syndrome, Inborn genetic diseases, Nicolaides-Baraitser syndrome
Health Risk
RS113070757
Conflicting classifications of pathogenicity
Coffin Siris/Intellectual Disability, Nicolaides-Baraitser syndrome, Inborn genetic diseases
Health Risk
RS1158538758
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1161689441
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1245060732
Conflicting classifications of pathogenicity
Health Risk
RS1284404989
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1297196554
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1343138502
Conflicting classifications of pathogenicity
Nicolaides-Baraitser syndrome, SMARCA2-related BAFopathy, Nicolaides-Baraitser syndrome
Health Risk
RS1369538932
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1373182486
Conflicting classifications of pathogenicity
Nicolaides-Baraitser syndrome, Blepharophimosis-impaired intellectual development syndrome, Nicolaides-Baraitser syndrome
Health Risk
RS138129490
Conflicting classifications of pathogenicity
Nicolaides-Baraitser syndrome, Inborn genetic diseases, Nicolaides-Baraitser syndrome
Health Risk
All Variants (138)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS907788066 | Health Risk | Conflicting classifications of pathogenicity | Nicolaides-Baraitser syndrome, Inborn genetic diseases, Nicolaides-Baraitser syndrome |
| RS909061146 | Health Risk | Conflicting classifications of pathogenicity | Nicolaides-Baraitser syndrome, Blepharophimosis-impaired intellectual development syndrome, Nicolaides-Baraitser syndrome |
| RS920789685 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS981565985 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1057518558 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS1131691369 | Health Risk | Likely pathogenic | — |
| RS1131691978 | Health Risk | Likely pathogenic | — |
| RS1207202747 | Health Risk | Likely pathogenic | Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS1554619354 | Health Risk | Likely pathogenic | — |
| RS1554623111 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554623885 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554624095 | Health Risk | Likely pathogenic | — |
| RS1554624100 | Health Risk | Likely pathogenic | Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS1554626829 | Health Risk | Likely pathogenic | — |
| RS1586635371 | Health Risk | Likely pathogenic | — |
| RS1586660338 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability, Blepharophimosis |
| RS1586692481 | Health Risk | Likely pathogenic | Intellectual disability, Blepharophimosis-impaired intellectual development syndrome, Intellectual disability |
| RS1586721515 | Health Risk | Likely pathogenic | Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS1819528679 | Health Risk | Likely pathogenic | Pituitary stalk interruption syndrome, Pituitary stalk interruption syndrome |
| RS1820557069 | Health Risk | Likely pathogenic | Blepharophimosis - intellectual disability syndrome, Blepharophimosis - intellectual disability syndrome |
| RS1820558146 | Health Risk | Likely pathogenic | Nicolaides-Baraitser syndrome, SMARCA2-related disorder, Nicolaides-Baraitser syndrome |
| RS1821581008 | Health Risk | Likely pathogenic | Nicolaides-Baraitser syndrome, SMARCA2-related BAFopathy, Nicolaides-Baraitser syndrome |
| RS1821584135 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS1823192606 | Health Risk | Likely pathogenic | Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS1823198138 | Health Risk | Likely pathogenic | Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS1823200345 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2130363709 | Health Risk | Likely pathogenic | — |
| RS2130474729 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2130599584 | Health Risk | Likely pathogenic | — |
| RS2130626814 | Health Risk | Likely pathogenic | Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS2537310121 | Health Risk | Likely pathogenic | Blepharophimosis-impaired intellectual development syndrome, Blepharophimosis-impaired intellectual development syndrome |
| RS2537344137 | Health Risk | Likely pathogenic | Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS2537344600 | Health Risk | Likely pathogenic | Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS2537347486 | Health Risk | Likely pathogenic | Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS2537347573 | Health Risk | Likely pathogenic | Blepharophimosis-impaired intellectual development syndrome, Blepharophimosis-impaired intellectual development syndrome |
| RS2537363604 | Health Risk | Likely pathogenic | Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS2537374056 | Health Risk | Likely pathogenic | SMARCA2-related disorder, SMARCA2-related disorder |
| RS2537391937 | Health Risk | Likely pathogenic | — |
| RS2537392050 | Health Risk | Likely pathogenic | Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS281875188 | Health Risk | Likely pathogenic | Nicolaides-Baraitser syndrome, SMARCA2-related BAFopathy, Nicolaides-Baraitser syndrome |
| RS281875206 | Health Risk | Likely pathogenic | — |
| RS281875238 | Health Risk | Likely pathogenic | Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS797045976 | Health Risk | Likely pathogenic | Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS863224921 | Health Risk | Likely pathogenic | Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS863224922 | Health Risk | Likely pathogenic | Nicolaides-Baraitser syndrome, Intellectual disability, Nicolaides-Baraitser syndrome |
| RS886041042 | Health Risk | Likely pathogenic | — |
| RS886041045 | Health Risk | Likely pathogenic | Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS1057518414 | Health Risk | Pathogenic | Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS1057520784 | Health Risk | Pathogenic | — |
| RS1057523836 | Health Risk | Pathogenic | — |