What does SMARCB1 gene do?
Normal Function. The SMARCB1 gene provides instructions for making a protein that 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.
What is INI1 gene?
The INI1/SNF5/SMARCB1 gene at chromosomal band 22q11. 2 encodes a member of the SWI/SNF chromatin remodeling complex. This complex is a negative regulator of the cell cycle, modulates cytoskeleton organization and functions as a tumor suppressor gene (1-6).
What does SMARCA4 stand for?
SMARCA4 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4) is a Protein Coding gene.
What does BRG1 stand for?
Brahma-related gene-1 (BRG1), the central catalytic subunit of numerous chromatin-modifying enzymatic complexes, uses the energy derived from ATP-hydrolysis to disrupt the chromatin architecture of target promoters.
What is SMARCB1 deficient sinonasal carcinoma?
SMARCB1-deficient sinonasal carcinoma represents an emerging poorly differentiated/undifferentiated sinonasal carcinoma that 1) cannot be better classified as another specific tumor type, 2) has consistent histopathological findings (albeit with some variability) with varying proportions of plasmacytoid/rhabdoid cells.
What chromosome is SMARCB1?
The data indicated that SMARCB1 is a candidate tumor suppressor gene on chromosome 22 that may be important for the genesis of meningiomas. In affected members of 3 different families with the rhabdoid predisposition syndrome-1 (RTPS1; 609322), Sevenet et al.
What is SMARCB1 gene mutation?
Mutations in the SMARCB1 gene are involved in several human tumor-predisposing syndromes. They were established as an underlying cause of the tumor suppressor syndrome schwannomatosis in 2008. There is a much higher rate of mutation detection in familial disease than in sporadic disease.
What is SMARCA2 gene?
The SMARCA2 gene provides instructions for making one piece (subunit) of a group of similar protein complexes known as SWI/SNF complexes. These complexes regulate gene activity (expression) by a process known as chromatin remodeling. Chromatin is the network of DNA and proteins that packages DNA into chromosomes.
Is SMARCA4 hereditary?
Mutations in the SMARCA4 gene are inherited in an autosomal dominant fashion. This means that children, brothers, sisters, and parents of individuals with a SMARCA4 mutation have a 1 in 2 (50%) chance of having the mutation as well.
What is the SMARCB1 gene mutation?
Where is the GeneCards database developed?
The GeneCards database is developed and maintained in the Crown Human Genome Center at the Weizmann Institute of Science in Israel . Founded in 1997, the GeneCards project defined as its goal to integrate the fragments of information scattered over a variety of specialized databases into a coherent picture.
Is ini1/baf47 protein loss an indicator of malignant rhabdoid tumor?
Loss of INI1/BAF47 protein, an indicator of malignant rhabdoid tumor, was observed. Therefore, MM with rhabdoid features was confirmed. Keywords: BAP-1; SMARCB1/ INI1/BAF47; p16 FISH; pleural mesothelioma; rhabdoid tumor.
How does GeneCards work?
For over two decades, GeneCards has provided gene-centric information, automatically mined and integrated from myriad data sources , resulting in a web-based card for each of the tens of thousands of human gene entries.
Should I use the ID_type parameter for my Gene card?
To avoid confusion, it is strongly recommended to use the id_type parameter, especially for numeric ids. In addition to the detailed “card” view of individual genes, GeneCards provides two powerful tools for working with sets of genes, GeneAlaCart and GeneAnalytics: