Probable global transcription activator SNF2L2 is a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...

that in humans is encoded by the ''SMARCA2''

gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...

Function

The protein encoded by this gene is a member of the

SWI/SNF In molecular biology, SWI/SNF (SWItch/Sucrose Non-Fermentable), is a subfamily of ATP-dependent chromatin remodeling complexes, which is found in eukaryotes. In other words, it is a group of proteins that associate to remodel the way DNA is packa ...

family of proteins and is highly similar to the

brahma Brahma (, ) is a Hindu god, referred to as "the Creator" within the Trimurti, the triple deity, trinity of Para Brahman, supreme divinity that includes Vishnu and Shiva.Jan Gonda (1969)The Hindu Trinity, Anthropos, Bd 63/64, H 1/2, pp. 212– ...

protein of ''

Drosophila ''Drosophila'' (), from Ancient Greek δρόσος (''drósos''), meaning "dew", and φίλος (''phílos''), meaning "loving", is a genus of fly, belonging to the family Drosophilidae, whose members are often called "small fruit flies" or p ...

''. Members of this family have

helicase Helicases are a class of enzymes that are vital to all organisms. Their main function is to unpack an organism's genetic material. Helicases are motor proteins that move directionally along a nucleic double helix, separating the two hybridized ...

and

ATPase ATPases (, Adenosine 5'-TriPhosphatase, adenylpyrophosphatase, ATP monophosphatase, triphosphatase, ATP hydrolase, adenosine triphosphatase) are a class of enzymes that catalyze the decomposition of ATP into ADP and a free phosphate ion or ...

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 Chromatin is a complex of DNA and protein found in eukaryote, eukaryotic cells. The primary function is to package long DNA molecules into more compact, denser structures. This prevents the strands from becoming tangled and also plays important r ...

. Two transcript variants encoding different

isoforms A protein isoform, or "protein variant", is a member of a set of highly similar proteins that originate from a single gene and are the result of genetic differences. While many perform the same or similar biological roles, some isoforms have uniqu ...

have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism.

Interactions

SMARCA2 has been shown to interact with: * ACTL6A, * ARID1B, * CEBPB, * POLR2A, * Prohibitin, * SIN3A, *

SMARCB1 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 is a protein that in humans is encoded by the ''SMARCB1'' gene. Function The protein encoded by this gene is part of a complex that relieves repress ...

, *

SMARCC1 SWI/SNF complex subunit SMARCC1 is a protein that in humans is encoded by the ''SMARCC1'' gene. Function The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and w ...

, and *

SS18 Protein SSXT is a protein that in humans is encoded by the ''SS18'' gene. Function SS18 is a member of the human SWI/SNF chromatin remodeling complex. Clinical significance SS18 is involved in a chromosomal translocation commonly found in ...

. - Nicolaides Baraitser Syndrome (NCBRS)

Function

Interactions

References

Further reading