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

Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner.

Mutations in this gene were first recognized in human cancer cell lines derived from adrenal gland [10] and lung. [11] The most common alterations in SMARCA4 are SMARCA4 Mutation (3.78%), SMARCA4 Amplification (0.28%), SMARCA4 Loss (0.10%), SMARCA4 T910M (0.09%), and SMARCA4 R1192H (0.04%) . SMARCA4 GENIE Cases - Top Alterations SMARCA4 Mutation is an inclusion criterion in 2 clinical trials for central nervous system neuroblastoma, of which 2 are open and 0 are closed. Of the trials that contain SMARCA4 Mutation and central nervous system neuroblastoma as inclusion criteria, 1 is phase 1 (1 open) and 1 is phase 4 (1 open) [ 5 ]. Therefore, mutations of SMARCA4 represent a genetic factor leading to adverse clinical outcome in lung adenocarcinoma treated by either nonimmunotherapy or immunotherapy.

Smarca4 gene mutation

2nd locus of the SWI/SNF complex, the SMARCA4 gene , also known as BRG1, were found in rhabdoid tumors with retention of Using this approach we identified new missense mutations in CBL, NOTCH1, PIK3R4 and SMARCA4 genes. 25494491, mutation, Rhabdoid Tumor of the Kidney SMARCA4 mutations are the cause of a familial cancer syndrome predisposing global transcription activator homologous sequence; homeotic gene regulator; Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this 19 Jul 2016 Brahma-related gene-1 SMARCA4 (also known as BRG1), the In addition, extensive dysregulation and mutations of SMARCA4 have been 3 May 2020 SMARCA4-deficient thoracic sarcoma is a rare tumor typically presenting On the other hand, Kim et al. reported that SWI/SNF gene-mutated 3 Nov 2014 SMARCA4, the most frequently mutated BAF gene in lung cancer, was We demonstrated that genetic mutations of BAF complexes lead to 25 Jun 2010 Gene symbol, SMARCA4. Gene name, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4. 4 Apr 2014 SMARCA4 mutations were discovered in over two-thirds of tumor samples in a 12 -patient study. Loss of SMARCA4 protein expression was found 9 Apr 2020 Somatic mutations in SMARCA4 (SWI/SNF–related, matrix-associated, actin- dependent regulator of chromatin, subfamily A, member 4) gene COSM710132; Gene name: SMARCA4; AA mutation.

MSK investigators discovered that mutations in the SMARCA4 gene which reduce or eliminate SMARCA4 gene expression and/or protein levels and function

Complete information for SMARCA2 gene (Protein Coding), SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium

Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and transcription regulatory region DNA binding. An important paralog of this gene is SMARCA4 . UniProtKB/Swiss-Prot Summary for SMARCA2 Gene SMARCA4 is detected as a mutational cancer driver in Head and neck squamous cell carcinoma. SMARCA4 reports in Head and neck squamous cell carcinoma (HNSC) 2011-07-14 · Genes that were categorized in the three-way model group had the most specific regulation in the smarca4 a50/a50 retinas, because the three-way interaction term (T*M*R) indicates the presence of a mutation-specific effect on gene expression in the retina at 52 hpf.

Tumor tissue from both patients also carried a somatic truncating mutation in the SMARCA4 gene, consistent with the '2-hit' hypothesis of tumorigenesis. In affected members of 4 unrelated families with RTPS2 presenting as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), Witkowski et al. (2014) identified 4 different germline heterozygous mutations in the SMARCA4 gene (603254 2019-03-05 The SMARCA4 gene provides instructions for making a protein called BRG1, which forms one piece (subunit) of several different protein groupings called SWI/SNF protein complexes. SWI/SNF complexes regulate gene activity (expression) by a process known as chromatin remodeling. Chromatin is the network of DNA and protein that packages DNA into chromosomes. Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.
Elective courses

Protein ID ENSP00000343896.

Article Global Regulatory DNA Potentiation by SMARCA4 Propagates to Selective Gene Expression Programs via Domain-Level Remodeling John E. Lazar,1,2,3 Sandra Stehling-Sun,2,3 Vivek Nandakumar,2 Hao Wang,2 Daniel R. Chee,1,2 Nicholas P. Howard,2 2020-01-06 · Background The SWI/SNF complex is an important chromatin remodeler, commonly dysregulated in cancer, with an estimated mutation frequency of 20%.
Bioprogram goteborg

The SMARCA4 gene mutations involved in Coffin-Siris syndrome are germline mutations, which means that they are present in cells throughout the body. The mutations change single protein building blocks (amino acids) in or remove an amino acid from the BRG1 protein.

Heterozygous mutations in SMARCA4 are also associated with Coffin Siris syndrome (4). Truncating mutations in the SMARCA4 gene typically lead to RTPS, whereas missense mutations are typically associated with Coffin Siris. Inheritance: Mutations in SMARCA4 are inherited in an autosomal dominant manner, and may be inherited or occur de novo. Complete information for SMARCA2 gene (Protein Coding), SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2, including: function, proteins, disorders, pathways, orthologs, and expression.

SMARCA4 localizes in the nucleus. Function: The SMARCA4 harbours the ATPase activity required for the chromatin remodelling activity of the SWI/SNF complex. This complex uses the energy of ATP hydrolysis to modify the interactions among histones leading to modifications of the chromatin structure and to the regulation of gene expression.

doi: 10.1038/s41594-017-0007-3.

Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. Am J Med Genet C Semin Med Genet.