SMC2
| SMC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | SMC2, CAP-E, CAPE, SMC-2, SMC2L1, structural maintenance of chromosomes 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 605576; MGI: 106067; HomoloGene: 4705; GeneCards: SMC2; OMA:SMC2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Structural maintenance of chromosomes protein 2 (SMC-2), also known as chromosome-associated protein E (CAP-E), is a protein that in humans is encoded by the SMC2 gene.[5][6] 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.[7] Several studies have demonstrated the necessity of SMC2 for cell division and proliferation.[8][9]
Structure
As one of the 6 Eukaryotic SMC proteins, SMC2 forms a heterodimer 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.[7] 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.[10]
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 prior to Anaphase.[9]
Interactions
SMC2 has been shown to interact with DNMT3B.[11]
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 (CdLS), which is characterized by developmental abnormalities, cognitive impairment, and a range of physical abnormalities.[12] 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.[13] 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.[13] 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[14] 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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000136824 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028312 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Schmiesing JA, Ball AR, Gregson HC, Alderton JM, Zhou S, Yokomori K (October 1998). "Identification of two distinct human SMC protein complexes involved in mitotic chromosome dynamics". Proceedings of the National Academy of Sciences of the United States of America. 95 (22): 12906–12911. Bibcode:1998PNAS...9512906S. doi:10.1073/pnas.95.22.12906. PMC 23650. PMID 9789013.
- ^ "Entrez Gene: SMC2 structural maintenance of chromosomes 2".
- ^ a b Eeftens JM, Katan AJ, Kschonsak M, Hassler M, de Wilde L, Dief EM, et al. (March 2016). "Condensin Smc2-Smc4 Dimers Are Flexible and Dynamic". Cell Reports. 14 (8): 1813–1818. doi:10.1016/j.celrep.2016.01.063. PMC 4785793. PMID 26904946.
- ^ Li X, Song G, Zhao Y, Ren J, Li Q, Cui Z (September 2021). "Functions of SMC2 in the Development of Zebrafish Liver". Biomedicines. 9 (9): 1240. doi:10.3390/biomedicines9091240. PMC 8465584. PMID 34572426.
- ^ a b Dávalos V, Súarez-López L, Castaño J, Messent A, Abasolo I, Fernandez Y, et al. (December 2012). "Human SMC2 protein, a core subunit of human condensin complex, is a novel transcriptional target of the WNT signaling pathway and a new therapeutic target". The Journal of Biological Chemistry. 287 (52): 43472–43481. doi:10.1074/jbc.M112.428466. PMC 3527934. PMID 23095742.
- ^ Losada A, Hirano T (June 2005). "Dynamic molecular linkers of the genome: the first decade of SMC proteins". Genes & Development. 19 (11): 1269–1287. doi:10.1101/gad.1320505. PMID 15937217.
- ^ Geiman TM, Sankpal UT, Robertson AK, Chen Y, Mazumdar M, Heale JT, et al. (2004). "Isolation and characterization of a novel DNA methyltransferase complex linking DNMT3B with components of the mitotic chromosome condensation machinery". Nucleic Acids Research. 32 (9): 2716–2729. doi:10.1093/nar/gkh589. PMC 419596. PMID 15148359.
- ^ "Cornelia de Lange syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. 2023-04-10.
- ^ a b Cao R, Pu T, Fang S, Long F, Xie J, Xu Y, et al. (2015). "Patients carrying 9q31.1-q32 deletion share common features with Cornelia de Lange Syndrome". Cellular Physiology and Biochemistry. 35 (1): 270–280. doi:10.1159/000369694. PMID 25591769. S2CID 41785465.
- ^ Montero S, Seras-Franzoso J, Andrade F, Martinez-Trucharte F, Vilar-Hernández M, Quesada M, et al. (February 2020). "Intracellular Delivery of Anti-SMC2 Antibodies against Cancer Stem Cells". Pharmaceutics. 12 (2): 185. doi:10.3390/pharmaceutics12020185. PMC 7076674. PMID 32098204.
Further reading
- Ham MF, Takakuwa T, Rahadiani N, Tresnasari K, Nakajima H, Aozasa K (July 2007). "Condensin mutations and abnormal chromosomal structures in pyothorax-associated lymphoma". Cancer Science. 98 (7): 1041–1047. doi:10.1111/j.1349-7006.2007.00500.x. PMC 11158810. PMID 17488335. S2CID 25888221.
- Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
- Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI, et al. (January 2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. Bibcode:2005Natur.433...77A. doi:10.1038/nature03207. PMID 15635413. S2CID 4344740.
- Przewloka MR, Pardington PE, Yannone SM, Chen DJ, Cary RB (February 2003). "In vitro and in vivo interactions of DNA ligase IV with a subunit of the condensin complex". Molecular Biology of the Cell. 14 (2): 685–697. doi:10.1091/mbc.E01-11-0117. PMC 150001. PMID 12589063.
- Kimura K, Cuvier O, Hirano T (February 2001). "Chromosome condensation by a human condensin complex in Xenopus egg extracts". The Journal of Biological Chemistry. 276 (8): 5417–5420. doi:10.1074/jbc.C000873200. PMID 11136719.
- Schmiesing JA, Gregson HC, Zhou S, Yokomori K (September 2000). "A human condensin complex containing hCAP-C-hCAP-E and CNAP1, a homolog of Xenopus XCAP-D2, colocalizes with phosphorylated histone H3 during the early stage of mitotic chromosome condensation". Molecular and Cellular Biology. 20 (18): 6996–7006. doi:10.1128/MCB.20.18.6996-7006.2000. PMC 88774. PMID 10958694.
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
 | This article on a gene on human chromosome 9 is a stub. You can help Wikipedia by adding missing information. |
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