SMARCA2 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 Gene
Also Known as BIS; BRM; SNF2; SWI2; hBRM; NCBRS; Sth1p; BAF190; SNF2L2; SNF2LA; hSNF2a
Species: Homo sapiens
About SMARCA2
This gene has 72 transcripts (splice variants), 213 orthologues, 30 paralogues and is associated with 5 phenotypes. Ubiquitous expression in ovary (RPKM 42.5), testis (RPKM 29.4) and 25 other tissues.
Summary
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]
SMARCA2 Products (7)
| mRNA | Protein | Name |
|---|---|---|
| NM_001289396.1 | NP_001276325.1 | probable global transcription activator SNF2L2 isoform a |
| NM_001289397.2 | NP_001276326.1 | probable global transcription activator SNF2L2 isoform c |
| NM_001289398.2 | NP_001276327.1 | probable global transcription activator SNF2L2 isoform d |
| NM_001289399.1 | NP_001276328.1 | probable global transcription activator SNF2L2 isoform e precursor |
| NM_001289400.1 | NP_001276329.1 | probable global transcription activator SNF2L2 isoform f precursor |
| NM_003070.5 | NP_003061.3 | probable global transcription activator SNF2L2 isoform a |
| NM_139045.4 | NP_620614.2 | probable global transcription activator SNF2L2 isoform b |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
12065415 | GOA |
| enables transcription cis-regulatory region binding |
IDA
IDA: Inferred from direct assay
|
17984088 | GOA |
| enables transcription coactivator activity |
IDA
IDA: Inferred from direct assay
|
17984088 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in negative regulation of DNA-templated transcription |
IDA
IDA: Inferred from direct assay
|
12065415 | GOA |
| involved in negative regulation of cell growth |
IMP
IMP: Inferred from mutant phenotype
|
12065415 | GOA |
| involved in negative regulation of cell population proliferation |
IDA
IDA: Inferred from direct assay
|
14660596 | GOA |
| involved in positive regulation of DNA-templated transcription |
IDA
IDA: Inferred from direct assay
|
17984088 | GOA |
| involved in positive regulation of DNA-templated transcription |
IMP
IMP: Inferred from mutant phenotype
|
8208605 | GOA |
| involved in positive regulation of transcription by RNA polymerase II |
IDA
IDA: Inferred from direct assay
|
15774904 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of SWI/SNF complex |
IDA
IDA: Inferred from direct assay
|
11078522 | GOA |
| located in chromatin |
IDA
IDA: Inferred from direct assay
|
12065415 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
17984088 | GOA |
SMARCA2 Protein Structure
QLQ: QLQ (172 - 207)
HSA: HSA (436 - 508)
BRK: BRK domain (588 - 633)
SNF2_N: SNF2 family N-terminal domain (727 - 1021)
Helicase_C: Helicase conserved C-terminal domain (1089 - 1164)
SnAC: Snf2-ATP coupling, chromatin remodelling complex (1259 - 1326)
Bromodomain: Bromodomain (1417 - 1492)
- 0
- 300
- 600
- 900
- 1200
- 1500
- 1590 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
probable global transcription activator SNF2L2 |
|
SMARCA2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SMARCA2 | P51531 | MECP2 | Homo sapiens | P51608 | 15696166 | |
|
Intra
|
SMARCA2 | P51531 | MECP2 | Homo sapiens | P51608 | 15696166 | |
|
Intra
|
SMARCA2 | P51531 | ARID1A | Homo sapiens | O14497 | 12200431 | |
|
Intra
|
SMARCA2 | P51531 | ARID1B | Homo sapiens | Q8NFD5 | 12200431 | |
|
Intra
|
SMARCA2 | P51531 | SDCBP | Homo sapiens | O00560 | 25910212 | |
|
Cross
|
SMARCA2 | P51531 | tat | Human immunodeficiency virus | P04326 | 16601680 | |
|
Cross
|
SMARCA2 | P51531 | tat | Human immunodeficiency virus | P04326 | 16601680 |
Recombinant SMARCA2 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P7985 | SMARCA2 Protein, Human (P.pastoris, His) | P51531 (S700-F1216) | ≥ 90%, as determined by reducing SDS-PAGE. |
SMARCA2 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83496 | SMARCA2 Antibody (YA3241) | WB, IHC-P, ICC/IF, FC | Human, Mouse |
| HY-P83496A | SMARCA2 Antibody (YA3241)(PBS only) | WB, IHC-P, ICC/IF, FC | Human, Mouse |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Nicolaides-Baraitser Syndrome |
|
|
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
|
| Ohdo Syndrome |
|
|
| Blepharophimosis |
|
|
| Pituitary Stalk Interruption Syndrome |
|
|
| Clark-Baraitser Syndrome |
|
|
| Schimke Immunoosseous Dysplasia |
|
|
| Smarca4-Deficient Sarcoma Of Thorax |
|
|
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
|
| Retinoblastoma |
|
|
| Alpha Thalassemia-X-Linked Intellectual Disability Syndrome |
|
|
| Nasal Cavity Cancer |
|
|
| Coffin-Siris Syndrome 1 |
|
|
| Autosomal Dominant Intellectual Developmental Disorder |
|
|
| Cockayne Syndrome |
|
|
| Basan Syndrome |
|
|
| Floating-Harbor Syndrome |
|
|
| Psychotic Disorder |
|
|
| Ovarian Small Cell Carcinoma |
|
|
| Bartholin'S Gland Adenoid Cystic Carcinoma |
|
|
| Schizophrenia 7 |
|
|
| Sinonasal Undifferentiated Carcinoma |
|
|
| Rhabdoid Cancer |
|
|
| Small-Cell Carcinoma Of The Ovary Of Hypercalcemic Type |
|
|
| Cartilage-Hair Hypoplasia |
|
|
| Adenoid Cystic Carcinoma |
|
|
| Large Cell Carcinoma With Rhabdoid Phenotype |
|
|
| Schizophrenia |
|
|
| Syndromic X-Linked Intellectual Disability Nascimento Type |
|
|
| Ovarian Endometrial Cancer |
|
|
| Juvenile Type Testicular Granulosa Cell Tumor |
|
|
| Testicular Granulosa Cell Tumor |
|
|
| Brachydactyly |
|
|
| Atypical Neurofibroma |
|
|
| Paranasal Sinus Cancer |
|
|
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome |
|
|
| Non-Syndromic X-Linked Intellectual Disability 93 |
|
|
| Ovarian Clear Cell Carcinoma |
|
|
| Rett Syndrome |
|
|
| Bladder Urothelial Carcinoma |
|
|
| Chromosome 16p13.3 Deletion Syndrome, Proximal |
|
|
| Schizoaffective Disorder |
|
|
| Spondyloepimetaphyseal Dysplasia |
|
|
| Alpha-Thalassemia |
|
|
| Neurilemmomatosis |
|
|
| Borjeson-Forssman-Lehmann Syndrome |
|
|
| Schizophrenia 12 |
|
|
| Atypical Teratoid Rhabdoid Tumor |
|
|
| Cockayne Syndrome B |
|
|
| Familial Isolated Trichomegaly |
|
|
| Charge Syndrome |
|
|
| Uv-Sensitive Syndrome |
|
|
| Developmental And Epileptic Encephalopathy 14 |
|
|
| Microphthalmia |
|
|
| Primary Hyperoxaluria |
|
|
| Hypertrichosis |
|
|
| Cornelia De Lange Syndrome |
|
|
| Congenital Nervous System Abnormality |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | SMARCA2 | VGNC | VGNC:77647 |
| Mus musculus | SMARCA2 | MGD | MGI:99603 |
| Rattus norvegicus | SMARCA2 | RGD | RGD:1302988 |
| Bos taurus | SMARCA2 | VGNC | VGNC:34986 |
| Canis familiaris | SMARCA2 | VGNC | VGNC:46529 |
| Felis catus | SMARCA2 | VGNC | VGNC:65463 |
| Others | SMARCA2 | NCBI |