SMARCA4 Chromosome 19
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
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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 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. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
Gene Info
Gene Group
"SNF2 related family|Bromodomain containing|BAF complex subunits|PBAF complex subunits|GBAF complex subunits"
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000127616
Associated Conditions (43)
Hereditary cancer-predisposing syndrome
Rhabdoid tumor predisposition syndrome 2
Intellectual disability
autosomal dominant 16
Otosclerosis 12
Medulloblastoma non-WNT/non-SHH group 3
Global developmental delay
Single transverse palmar crease
Facial asymmetry
Strabismus
Ventricular septal defect
SMARCA4-related disorder
Delayed speech and language development
Atrial septal defect
Coffin-Siris syndrome
Uveal melanoma
Malignant tumor of esophagus
Cervical cancer
Clear cell carcinoma of kidney
Colon adenocarcinoma
+23 more conditions
Key Variants
RS1016382250
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2, Intellectual disability
Health Risk
RS1018881303
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2, Intellectual disability
Health Risk
RS1020163987
Conflicting classifications of pathogenicity
Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
Health Risk
RS1021610405
Conflicting classifications of pathogenicity
Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome, Intellectual disability
Health Risk
RS1023059961
Conflicting classifications of pathogenicity
Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome, Intellectual disability
Health Risk
RS1029640674
Conflicting classifications of pathogenicity
Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
Health Risk
RS1031885122
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2, Intellectual disability
Health Risk
RS1043452739
Conflicting classifications of pathogenicity
Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome, Intellectual disability
Health Risk
RS1043517699
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2, Intellectual disability
Health Risk
RS1050237
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2, Intellectual disability
Health Risk
RS1055237124
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
Health Risk
RS1056234449
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2, Intellectual disability
Health Risk
All Variants (717)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS876657378 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 16, Intellectual disability |
| RS878854224 | Health Risk | Pathogenic | Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2 |
| RS972341316 | Health Risk | Pathogenic | Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome, SMARCA4-related disorder |
| RS1060499936 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 16, Rhabdoid tumor predisposition syndrome 2 |
| RS1342399494 | Health Risk | Pathogenic/Likely pathogenic | Rhabdoid tumor predisposition syndrome 2, Anophthalmia-microphthalmia syndrome, Rhabdoid tumor predisposition syndrome 2 |
| RS143160246 | Health Risk | Pathogenic/Likely pathogenic | Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555757738 | Health Risk | Pathogenic/Likely pathogenic | Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2 |
| RS1555763780 | Health Risk | Pathogenic/Likely pathogenic | Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2 |
| RS1568419675 | Health Risk | Pathogenic/Likely pathogenic | Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2 |
| RS1600335765 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome |
| RS2146541571 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2, Neoplasm |
| RS281875227 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 16, Inborn genetic diseases |
| RS758517117 | Health Risk | Pathogenic/Likely pathogenic | Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2 |
| RS769308802 | Health Risk | Pathogenic/Likely pathogenic | Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2 |
| RS770014321 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 16, SMARCA4-related disorder |
| RS770680174 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 16, SMARCA4-related BAFopathy |
| RS797045981 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 16, Rhabdoid tumor predisposition syndrome 2 |