Probable global transcription activator SNF2L2 is a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...

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

gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...

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 pack ...

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. Two transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism.

Interactions

SMARCA2 has been shown to

interact Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...

with: *

ACTL6A Actin-like protein 6A is a protein that in humans is encoded by the ''ACTL6A'' gene. Function This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both ...

, *

ARID1B AT-rich interactive domain-containing protein 1B is a protein that in humans is encoded by the ''ARID1B'' gene. ARID1B is a component of the human SWI/SNF chromatin remodeling complex. Clinical significance Germline mutations in ARID1B are ass ...

, *

CEBPB CCAAT/enhancer-binding protein beta is a protein that in humans is encoded by the ''CEBPB'' gene. Function The protein encoded by this intronless gene is a bZIP transcription factor that can bind as a homodimer to certain DNA regulatory regi ...

, *

POLR2A DNA-directed RNA polymerase II subunit RPB1, also known as RPB1, is an enzyme that in humans is encoded by the ''POLR2A'' gene. Function This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing m ...

, *

Prohibitin Prohibitin, also known as PHB, is a protein that in humans is encoded by the ''PHB'' gene. The ''Phb'' gene has also been described in animals, fungi, plants, and unicellular eukaryotes. Prohibitins are divided in two classes, termed Type-I and Ty ...

, * 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 repressiv ...

, *

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 wh ...

, 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 s ...

. - Nicolaides Baraitser Syndrome (NCBRS)

Function

Interactions

References

Further reading