SMARCA2

SMARCA2

SMARCA2

Protein-coding gene in the species Homo sapiens

Probable global transcription activator SNF2L2 is a protein that in humans is encoded by the SMARCA2 gene.[5][6]

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Function

The protein encoded by this gene is a member of the SWI/SNF 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.[6]

Interactions

SMARCA2 has been shown to interact with:

- Nicolaides Baraitser Syndrome (NCBRS)

References

  1. [1]
    GRCh38: Ensembl release 89: ENSG00000080503 – Ensembl, May 2017
  2. [2]
    GRCm38: Ensembl release 89: ENSMUSG00000024921 – Ensembl, May 2017
  3. [3]
    "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. [4]
    "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. [5]
    Muchardt C, Yaniv M, Mattei MG (Apr 1994). "Assignment of HBRM, the human homolog of S. cerevisiae SNF2/SWI2 and Drosophila brm genes, to chromosome region 9p23-p24, by in situ hybridization". Mammalian Genome. 5 (4): 241–3. doi:10.1007/BF00360554. PMID 8012116. S2CID 43436716.
  6. [6]
    "Entrez Gene: SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2".
  7. [7]
    Wang W, Côté J, Xue Y, Zhou S, Khavari PA, Biggar SR, Muchardt C, Kalpana GV, Goff SP, Yaniv M, Workman JL, Crabtree GR (Oct 1996). "Purification and biochemical heterogeneity of the mammalian SWI-SNF complex". The EMBO Journal. 15 (19): 5370–82. doi:10.1002/j.1460-2075.1996.tb00921.x. PMC 452280. PMID 8895581.
  8. [8]
    Park J, Wood MA, Cole MD (Mar 2002). "BAF53 forms distinct nuclear complexes and functions as a critical c-Myc-interacting nuclear cofactor for oncogenic transformation". Molecular and Cellular Biology. 22 (5): 1307–16. doi:10.1128/mcb.22.5.1307-1316.2002. PMC 134713. PMID 11839798.
  9. [9]
    Kuroda Y, Oma Y, Nishimori K, Ohta T, Harata M (Nov 2002). "Brain-specific expression of the nuclear actin-related protein ArpNalpha and its involvement in mammalian SWI/SNF chromatin remodeling complex". Biochemical and Biophysical Research Communications. 299 (2): 328–34. doi:10.1016/s0006-291x(02)02637-2. PMID 12437990.
  10. [10]
    Inoue H, Furukawa T, Giannakopoulos S, Zhou S, King DS, Tanese N (Nov 2002). "Largest subunits of the human SWI/SNF chromatin-remodeling complex promote transcriptional activation by steroid hormone receptors". The Journal of Biological Chemistry. 277 (44): 41674–85. doi:10.1074/jbc.M205961200. PMID 12200431.
  11. [11]
    Kowenz-Leutz E, Leutz A (Nov 1999). "A C/EBP beta isoform recruits the SWI/SNF complex to activate myeloid genes". Molecular Cell. 4 (5): 735–43. doi:10.1016/s1097-2765(00)80384-6. PMID 10619021.
  12. [12]
    Sif S, Saurin AJ, Imbalzano AN, Kingston RE (Mar 2001). "Purification and characterization of mSin3A-containing Brg1 and hBrm chromatin remodeling complexes". Genes & Development. 15 (5): 603–18. doi:10.1101/gad.872801. PMC 312641. PMID 11238380.
  13. [13]
    Cho H, Orphanides G, Sun X, Yang XJ, Ogryzko V, Lees E, Nakatani Y, Reinberg D (Sep 1998). "A human RNA polymerase II complex containing factors that modify chromatin structure". Molecular and Cellular Biology. 18 (9): 5355–63. doi:10.1128/MCB.18.9.5355. PMC 109120. PMID 9710619.
  14. [14]
    Wang S, Zhang B, Faller DV (Jun 2002). "Prohibitin requires Brg-1 and Brm for the repression of E2F and cell growth". The EMBO Journal. 21 (12): 3019–28. doi:10.1093/emboj/cdf302. PMC 126057. PMID 12065415.
  15. [15]
    Perani M, Ingram CJ, Cooper CS, Garrett MD, Goodwin GH (Nov 2003). "Conserved SNH domain of the proto-oncoprotein SYT interacts with components of the human chromatin remodelling complexes, while the QPGY repeat domain forms homo-oligomers". Oncogene. 22 (50): 8156–67. doi:10.1038/sj.onc.1207031. PMID 14603256.

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