SMARCA4 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 Gene
Also Known as BRG1; CSS4; SNF2; SWI2; MRD16; RTPS2; BAF190; SNF2L4; SNF2LB; hSNF2b; BAF190A; SNF2-beta
Species: Homo sapiens
About SMARCA4
This gene has 54 transcripts (splice variants), 268 orthologues, 30 paralogues and is associated with 166 phenotypes. Ubiquitous expression in testis (RPKM 21.8), brain (RPKM 14.5) and 25 other tissues.
Summary
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]
SMARCA4 Products (10)
| mRNA | Protein | Name |
|---|---|---|
| NM_001128844.3 | NP_001122316.1 | transcription activator BRG1 isoform B |
| NM_001128845.2 | NP_001122317.1 | transcription activator BRG1 isoform C |
| NM_001128846.2 | NP_001122318.1 | transcription activator BRG1 isoform D |
| NM_001128847.4 | NP_001122319.1 | transcription activator BRG1 isoform E |
| NM_001128848.2 | NP_001122320.1 | transcription activator BRG1 isoform F |
| NM_001128849.3 | NP_001122321.1 | transcription activator BRG1 isoform A |
| NM_001374457.1 | NP_001361386.1 | transcription activator BRG1 isoform E |
| NM_001387283.1 | NP_001374212.1 | transcription activator BRG1 isoform A |
| NM_001411150.1 | NP_001398079.1 | transcription activator BRG1 isoform G |
| NM_003072.5 | NP_003063.2 | transcription activator BRG1 isoform B |
SMARCA4 Protein Structure
QLQ: QLQ (171 - 206)
HSA: HSA (460 - 532)
BRK: BRK domain (610 - 655)
SNF2_N: SNF2 family N-terminal domain (757 - 1051)
Helicase_C: Helicase conserved C-terminal domain (1117 - 1194)
SnAC: Snf2-ATP coupling, chromatin remodelling complex (1322 - 1389)
Bromodomain: Bromodomain (1509 - 1582)
- 0
- 300
- 600
- 900
- 1200
- 1500
- 1679 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
transcription activator BRG1 |
|
SMARCA4 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Références |
|---|---|---|---|---|---|---|---|
|
Intra
|
SMARCA4 | P51532 | TERT | Homo sapiens | O14746 | 19571879 | |
|
Intra
|
SMARCA4 | P51532 | SMARCC1 | Homo sapiens | Q92922 | 35271311 | |
|
Intra
|
SMARCA4 | P51532 | SMARCC1 | Homo sapiens | Q92922 | 12368262 | |
|
Intra
|
SMARCA4 | P51532 | SMARCC1 | Homo sapiens | Q92922 | 15985610 | |
|
Intra
|
SMARCA4 | P51532 | SMARCC1 | Homo sapiens | Q92922 | 28420882 | |
|
Intra
|
SMARCA4 | P51532 | SMARCC1 | Homo sapiens | Q92922 | 23540691 | |
|
Intra
|
SMARCA4 | P51532 | SMARCC1 | Homo sapiens | Q92922 | 18303029 | |
|
Intra
|
SMARCA4 | P51532 | SMARCC1 | Homo sapiens | Q92922 | 10078207 | |
|
Intra
|
SMARCA4 | P51532 | SMARCC1 | Homo sapiens | Q92922 | 31759698 | |
|
Intra
|
SMARCA4 | P51532 | SMARCC1 | Homo sapiens | Q92922 | 12917342 | |
|
Intra
|
SMARCA4 | P51532 | SMARCB1 | Homo sapiens | Q12824 | 23540691 | |
|
Intra
|
SMARCA4 | P51532 | SMARCB1 | Homo sapiens | Q12824 | 10078207 | |
|
Intra
|
SMARCA4 | P51532 | SMARCB1 | Homo sapiens | Q12824 | 31759698 | |
|
Intra
|
SMARCA4 | P51532 | SMARCB1 | Homo sapiens | Q12824 | 15985610 | |
|
Intra
|
SMARCA4 | P51532 | SMARCB1 | Homo sapiens | Q12824 | 12368262 | |
|
Intra
|
SMARCA4 | P51532 | SMARCB1 | Homo sapiens | Q12824 | 23540691 | |
|
Intra
|
SMARCA4 | P51532 | SMARCB1 | Homo sapiens | Q12824 | 35271311 | |
|
Intra
|
SMARCA4 | P51532 | SMARCD1 | Homo sapiens | Q96GM5 | 15985610 | |
|
Intra
|
SMARCA4 | P51532 | SMARCD1 | Homo sapiens | Q96GM5 | 12917342 | |
|
Intra
|
SMARCA4 | P51532 | SMARCD1 | Homo sapiens | Q96GM5 | 35271311 | |
|
Intra
|
SMARCA4 | P51532 | H2AX | Homo sapiens | P16104 | 20224553 | |
|
Intra
|
SMARCA4 | P51532 | H2AX | Homo sapiens | P16104 | 20224553 | |
|
Intra
|
SMARCA4 | P51532 | RBPJ | Homo sapiens | Q06330 | 23022380 | |
|
Intra
|
SMARCA4 | P51532 | PBRM1 | Homo sapiens | Q86U86 | 15985610 | |
|
Intra
|
SMARCA4 | P51532 | PBRM1 | Homo sapiens | Q86U86 | 35271311 | |
|
Intra
|
SMARCA4 | P51532 | PBRM1 | Homo sapiens | Q86U86 | 22140357 | |
|
Intra
|
SMARCA4 | P51532 | ARID2 | Homo sapiens | Q68CP9 | 35271311 | |
|
Intra
|
SMARCA4 | P51532 | ARID2 | Homo sapiens | Q68CP9 | 15985610 | |
|
Intra
|
SMARCA4 | P51532 | ARID2 | Homo sapiens | Q68CP9 | 22140357 | |
|
Intra
|
SMARCA4 | P51532 | ARID1A | Homo sapiens | O14497 | 15985610 | |
|
Intra
|
SMARCA4 | P51532 | ARID1A | Homo sapiens | O14497 | 12368262 | |
|
Intra
|
SMARCA4 | P51532 | ARID1A | Homo sapiens | O14497 | 23540691 | |
|
Intra
|
SMARCA4 | P51532 | ARID1A | Homo sapiens | O14497 | 11988099 | |
|
Intra
|
SMARCA4 | P51532 | ARID1B | Homo sapiens | Q8NFD5 | 35271311 | |
|
Intra
|
SMARCA4 | P51532 | ARID1B | Homo sapiens | Q8NFD5 | 12200431 | |
|
Intra
|
SMARCA4 | P51532 | SYT-SSX1 | Homo sapiens | A4PIV7 | 23540691 | |
|
Intra
|
SMARCA4 | P51532 | REST | Homo sapiens | Q13127 | 12192000 | |
|
Cross
|
SMARCA4 | P51532 | Nr3c1 | Rattus norvegicus | P06536 | 12917342 |
Recombinant SMARCA4 Proteins
| Cat. No. | Nom du produit | Accession | Pureté |
|---|---|---|---|
| HY-P71784 | SMARCA4 Protein, Human (P.pastoris, His) | P51532 (E700-F1246) | ≥ 90%, as determined by reducing SDS-PAGE. |
SMARCA4 Anticorps
| Cat. No. | Nom du produit | Application | Reactivity |
|---|---|---|---|
| HY-P80039 | BRG1 Antibody (YA577) | WB, IHC-P, IHC-F, ICC/IF, FC, IF-Tissue | Human, Mouse, Rat, Pig |
| HY-P80575 | BRG1 Antibody (YA817) | WB, ICC/IF, IP | Human, Mouse |
| HY-P80575A | BRG1 Antibody (YA817)(PBS only) | WB, ICC/IF, IP | Human, Mouse |
| HY-P85601 | BRG1 Antibody (YA5293) | WB, ICC/IF, IP | Human, Mouse |
| HY-P86425 | BRG1 Antibody (YA6117) | WB, IHC-P, ICC/IF, IP, ELISA | Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Coffin-Siris Syndrome 4 |
|
|
| Rhabdoid Tumor Predisposition Syndrome 2 |
|
|
| Ovarian Small Cell Carcinoma |
|
|
| Smarca4-Deficient Sarcoma Of Thorax |
|
|
| Atypical Teratoid Rhabdoid Tumor |
|
|
| Coffin-Siris Syndrome 1 |
|
|
| Familial Hypercholesterolemia |
|
|
| Hypercholesterolemia, Familial, 1 |
|
|
| Cerebral Palsy |
|
|
| Bap1 Tumor Predisposition Syndrome |
|
|
| Inherited Cancer-Predisposing Syndrome |
|
|
| Ventricular Septal Defect |
|
|
| Atrial Heart Septal Defect |
|
|
| Interatrial Communication |
|
|
| Cleft Palate, Isolated |
|
|
| Tumor Predisposition Syndrome 2 |
|
|
| Neuroblastoma |
|
|
| Nasal Cavity Cancer |
|
|
| Small-Cell Carcinoma Of The Ovary Of Hypercalcemic Type |
|
|
| Retinoblastoma |
|
|
| Schimke Immunoosseous Dysplasia |
|
|
| Large Cell Carcinoma With Rhabdoid Phenotype |
|
|
| Thymus Large Cell Carcinoma |
|
|
| Li-Fraumeni Syndrome |
|
|
| Medulloblastoma |
|
|
| Alpha Thalassemia-X-Linked Intellectual Disability Syndrome |
|
|
| Choroid Plexus Cancer |
|
|
| Hypertrichosis |
|
|
| Kidney Rhabdoid Cancer |
|
|
| Autosomal Dominant Intellectual Developmental Disorder |
|
|
| Sinonasal Undifferentiated Carcinoma |
|
|
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
|
| Clark-Baraitser Syndrome |
|
|
| Ovarian Clear Cell Carcinoma |
|
|
| Mediastinum Sarcoma |
|
|
| Cockayne Syndrome |
|
|
| Neurilemmomatosis |
|
|
| Rhabdoid Cancer |
|
|
| Juvenile Type Testicular Granulosa Cell Tumor |
|
|
| Testicular Granulosa Cell Tumor |
|
|
| Floating-Harbor Syndrome |
|
|
| Paranasal Sinus Cancer |
|
|
| Clear Cell Adenofibroma |
|
|
| Helsmoortel-Van Der Aa Syndrome |
|
|
| Bacteremia 2 |
|
|
| Oculopharyngeal Muscular Dystrophy |
|
|
| Neural Tube Defects |
|
|
| Posterior Pituitary Gland Neoplasm |
|
|
| Lung Cancer |
|
|
| Basan Syndrome |
|
|
| Adrenal Carcinoma |
|
|
| Epithelioid Sarcoma |
|
|
| Breast Cancer |
|
|
| Epithelioid Malignant Peripheral Nerve Sheath Tumor |
|
|
| Small Cell Carcinoma |
|
|
| Microphthalmia |
|
|
| Endometrioid Ovary Carcinoma |
|
|
| Malignant Teratoma |
|
|
| Rett Syndrome |
|
|
| Charge Syndrome |
|
|
| Cystic Fibrosis |
|
|
| Rhabdomyosarcoma |
|
|
| Cartilage-Hair Hypoplasia |
|
|
| Clear Cell Meningioma |
|
|
| Alpha-Thalassemia |
|
|
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome |
|
|
| Childhood Medulloblastoma |
|
|
| Ovarian Cancer |
|
|
| Hyperoxaluria, Primary, Type I |
|
|
| Kabuki Syndrome 1 |
|
|
| Cockayne Syndrome B |
|
|
| Primary Hyperoxaluria |
|
|
| Infratentorial Cancer |
|
|
| Chromosome 16p13.3 Deletion Syndrome, Proximal |
|
|
| Papillary Adenofibroma |
|
|
| Prostate Cancer |
|
|
| Sarcoma, Synovial |
|
|
| Developmental And Epileptic Encephalopathy 14 |
|
|
| Basal Cell Nevus Syndrome |
|
|
| Patent Ductus Arteriosus 1 |
|
|
| Hereditary Breast Ovarian Cancer Syndrome |
|
|
| Aortic Aneurysm, Familial Thoracic 1 |
|
|
| Meningioma, Familial |
|
|
| Congenital Nervous System Abnormality |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | SMARCA4 | RGD | RGD:621728 |
| Canis familiaris | SMARCA4 | VGNC | VGNC:46530 |
| Macaca mulatta | SMARCA4 | VGNC | VGNC:77648 |
| Felis catus | SMARCA4 | VGNC | VGNC:65464 |
| Bos taurus | SMARCA4 | VGNC | VGNC:34987 |
| Mus musculus | SMARCA4 | MGD | MGI:88192 |
| Others | SMARCA4 | NCBI |