Structural maintenance of chromosomes protein 2 (SMC-2), also known as chromosome-associated protein E (CAP-E), 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 ''SMC2''

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 ...

. SMC2 is part of the SMC protein family and is a core subunit of condensin I and II, large protein complexes involved in chromosome condensation, overall organization. Several studies have demonstrated the necessity of SMC2 for cell division and proliferation.

Structure

As one of the 6 Eukaryotic SMC proteins, SMC2 forms a hetero dimer with SMC4 via their hinge domains. The heterodimer formed functions as a flexible and dynamic holocomplex core, which complexes with variant other non-SMC regulatory proteins to form condensin. In condensin I, SMC2 complexes with CAP-H, CAP-D2, and CAP-G. In condensin II, SMC2 complexes with CAP-H2, CAP-D3, and CAP-G2. Subunits CAP-H and CAP-H2 are categorized as kleisin proteins, similar to Scc1 which is found in cohesin, while CAP-D2, CAP-G, CAP-D3, and CAP-G2 contain structural HEAT repeats. Condensin-Schema

Function

SMC2 works in the condensin complex as transcriptional regulation by compacting replicated DNA prior to mitotic division via supercoiling of the DNA. SMC2 also functions in resolving

Sister chromatids A sister chromatid refers to the identical copies ( chromatids) formed by the DNA replication of a chromosome, with both copies joined together by a common centromere. In other words, a sister chromatid may also be said to be 'one-half' of the du ...

prior to

Anaphase Anaphase () is the stage of mitosis after the process of metaphase, when replicated chromosomes are split and the newly-copied chromosomes (daughter chromatids) are moved to opposite poles of the cell. Chromosomes also reach their overall maxim ...

Interactions

SMC2 has been shown to interact with DNMT3B.

Clinical significance

Cornelia de Lange Syndrome

Mutations in the SMC2 gene have been associated with a variety of human diseases, including

Cornelia de Lange syndrome Cornelia de Lange syndrome (CdLS) is a genetic disorder. People with Cornelia de Lange syndrome experience a range of physical, cognitive, and medical challenges ranging from mild to severe. Cornelia de Lange syndrome has a widely varied phenotype, ...

(CdLS), which is characterized by developmental abnormalities, cognitive impairment, and a range of physical abnormalities. A study showed a deletion of a portion of the long arm of chromosome 9 (9q31.1-q32) causes symptoms similar to those found in patients with CdLS. This deletion overlaps the gene encoding SMC2. Many mutations in a variety of different genes have been linked to CdLS, however around 30% of cases have not been linked to one of the known genes. More research is being done to discover other causes for this syndrome.

Cancer

Other studies have suggested that alterations in SMC2 protein expression may be involved in the development and progression of cancer. Overexpression of SMC2 has been found to lead to tumorigenesis and malignancy. Now, some research studies are exploring inhibition of SMC2 as a potential therapeutic target for the treatment of cancer as the inhibition of SMC2 expression or activity can lead to the induction of cell death in cancer cells.

References

External links

PDBe-KB
provides an overview of all the structure information available in the PDB for Human Structural maintenance of chromosomes protein 2
PDBe-KB
provides an overview of all the structure information available in the PDB for Mouse Structural maintenance of chromosomes protein 2 {{Nucleus