2018-02-01

>sp|A0JNC3|INSI1_BOVIN Insulin-induced gene 1 protein OS=Bos taurus Transcription activator BRG1 OS=Bos taurus GN=SMARCA4 PE=2 SV=1

SMARCA4 Mutation is present in 3.78% of AACR GENIE cases, with lung adenocarcinoma, colon adenocarcinoma, bladder urothelial carcinoma, endometrial endometrioid adenocarcinoma, and cutaneous melanoma having the greatest prevalence []. GeneCards Summary for SMARCA4 Gene: SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4) is a protein-coding gene. Diseases associated with SMARCA4 include mental retardation, autosomal dominant 16, and rhabdoid tumor predisposition syndrome 2. The gene encoding the ATPase of the chromatin remodeling SWI/SNF complexes SMARCA4 (BRG1) is often mutated or silenced in tumors, suggesting a role as tumor suppressor. Nonetheless, recent reports show requirement of SMARCA4 for tumor cells growth. Here, we performed a computational meta-analysis us … SMARCA4 Gene, Drug Resistance, Tissue Distribution, Mutation Distribution, Variants, SMARCA4 Genome Browser, SMARCA4 References SMARCA4 - Explore an overview of SMARCA4, with a histogram displaying coding mutations, full tabulated details of all associated variants, tissue distribution and any drug resistance data. SMARCA4 (SWI / SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) encodes a protein involved in chromatin remodeling, which is important for regulating the binding of transcription factors to DNA (also known as BRG1 and hSNF2β, amongst others; NCBI Gene ID: 6597) Functional Associations.

Smarca4 gene

Gene: SMARCA4. GWAS; Genes; SMARCA4. SMARCA4. Gene information. Gene name. -.

COSM88025; Gene name: SMARCA4; AA mutation.

Genes up-regulated in ALAB cells (breast cancer) upon reintroduction of SMARCA4 [GeneID=6597] expressed off adenoviral vector. Full description or abstract

CTNNB1, DDX3X, GLI2, SMARCA4, MYC, MYCN, PTCH1, TP53, and MLL2 gene variants and risk of childhood medulloblastoma. Journal of Neuro-Oncology, CTNNB1, DDX3X, GLI2, SMARCA4, MYC, MYCN, PTCH1, TP53, and MLL2 gene variants and risk of childhood medulloblastoma. Journal of Neuro-Oncology, av MG till startsidan Sök — Det är generna ARID1A, ARID1B, ARID2, DPF2, SMARCA4, Gonadal mosaicism in ARID1B gene causes intellectual disability and Gene, Organism.

av MG till startsidan Sök — Det är generna ARID1A, ARID1B, ARID2, DPF2, SMARCA4, Gonadal mosaicism in ARID1B gene causes intellectual disability and

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4) is a gene that encodes a protein that functions in the regulation of transcription via its helicase and ATPase activity. Tumor suppressor SMARCA4 (BRG1), a key SWI/SNF chromatin remodeling gene, is frequently inactivated in cancers and is not directly druggable. We recently uncovered that SMARCA4 loss in an ovarian cancer subtype causes cyclin D1 deficiency leading to susceptibility to CDK4/6 inhibition. SMARCA4, a central component of the SWI/SNF chromatin-remodeling complex, has been identified as a tumor suppressor gene [227,228]. Several rhabdoid tumors were found to carry inactivating mutations, while SMARCA4 expression is silenced in many human tumor cell lines and tumor tissue. SMARCA4: The protein product is a member of the SWI/SNF family, and therefore has helicase and ATPase activities required for epigenetic regulation of gene expression. CREBBP: This gene is ubiquitously expressed and functions as a transcriptional co-activator for many transcription factors.

GENCODE Basic is a subset of representative transcripts (splice variants). GENCODE basic, SMARCA4-004: ENST00000589677.1: 5181: 1616aa: ENSP00000464778.1 Smarca4 gene expression in Bgee.
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Comprehensive Careful construction of clinically effective and scientifically justified gene panels. Our Nucleus online Graphs and statistics for the SMARCA4 gene. Variant type (DNA level, all public variants).

See full Safety & Prescribing Info. Genetic test results may have health implications for individuals in the same family. We're here to help with our Family Variant Testing. Cell & Gene Therapy · Cell-based Immunotherapy · HLA Typed Cells · Protein & Vaccine Production · Mammalian Protein Expression · Vaccine Manufacturing.
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Nicolaides-Baraitser syndrome. At least 50 mutations in the SMARCA2 gene have been found to cause Nicolaides-Baraitser syndrome. This condition is characterized by multiple abnormalities, primarily sparse scalp hair, small head size (microcephaly), distinctive facial features, short stature, abnormal fingers, recurrent seizures (epilepsy), and moderate to severe intellectual disability with

Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Genes. 3184 target genes of the SMARCA4 transcription factor in low- or Gene-specific PCR primers for the unbiased preamplification of small quantities of cDNA for subsequent use in downstream gene expression analysis. List Price: Gene: SMARCA4 ENSG00000127616 .