SMARCA2

SMARCA2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2DAT, 5DKC, 4QY4
Identifiers
Aliases	SMARCA2 , BAF190, BRM, NCBRS, SNF2, SNF2L2, SNF2LA, SWI2, Sth1p, hBRM, hSNF2a, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2, BIS
External IDs	OMIM: 600014 MGI: 99603 HomoloGene: 2308 GeneCards: SMARCA2
Gene location (Human) Chr. Chromosome 9 (human) [1] Band 9p24.3 Start 1,980,290 bp [1] End 2,193,624 bp [1]
Gene location (Mouse) Chr. Chromosome 19 (mouse) [2] Band 19 C1|19 21.17 cM Start 26,582,450 bp [2] End 26,755,722 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon sural nerve secondary oocyte germinal epithelium dorsolateral prefrontal cortex cerebellar hemisphere nucleus accumbens caudate nucleus thymus frontal pole Top expressed in cingulate gyrus dorsomedial hypothalamic nucleus cerebellar cortex superior frontal gyrus cerebellar vermis lateral hypothalamus habenula ureter spermatid visual cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding transcription coactivator activity DNA binding ATP-dependent activity, acting on DNA helicase activity histone binding chromatin binding hydrolase activity, acting on acid anhydrides protein binding hydrolase activity ATP binding ATPase activity Cellular component nBAF complex intracellular membrane-bounded organelle nucleoplasm npBAF complex intermediate filament cytoskeleton nucleus SWI/SNF complex Biological process chromatin remodeling regulation of transcription, DNA-templated regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II transcription, DNA-templated nervous system development positive regulation of transcription, DNA-templated negative regulation of cell growth spermatid development negative regulation of transcription, DNA-templated positive regulation of transcription by RNA polymerase II negative regulation of cell population proliferation transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6595 67155 Ensembl ENSG00000080503 ENSMUSG00000024921 UniProt P51531 Q6DIC0 RefSeq (mRNA) NM_139045 NM_001289396 NM_001289397 NM_001289398 NM_001289399 NM_001289400 NM_003070 NM_011416 NM_026003 NM_001347439 RefSeq (protein) NP_001276325 NP_001276326 NP_001276327 NP_001276328 NP_001276329 NP_003061 NP_620614 NP_001334368 NP_035546 NP_080279 NP_001392059 NP_001392060 NP_001392061 NP_001392062 NP_001392063 NP_001392064 NP_001392065 Location (UCSC) Chr 9: 1.98 – 2.19 Mb Chr 19: 26.58 – 26.76 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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:

• ACTL6A, ^{[7] [8] [9]}
• ARID1B, ^[10]
• CEBPB, ^[11]
• POLR2A, ^{[7] [12] [13]}
• Prohibitin, ^[14]
• SIN3A, ^[12]
• SMARCB1, ^{[7] [12]}
• SMARCC1, ^{[7] [12]} and
• SS18. ^[15]

- Nicolaides Baraitser Syndrome (NCBRS)

References

1. GRCh38: Ensembl release 89: ENSG00000080503 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000024921 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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. "Entrez Gene: SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2".
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. 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. 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. 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. 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. 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. 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. 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. 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.

Further reading

• Aves SJ, Hindley J, Phear GA, Tongue N (Aug 1995). "A fission yeast gene mapping close to suc1 encodes a protein containing two bromodomains". Molecular & General Genetics. 248 (4): 491–8. doi:10.1007/BF02191650. PMID   7565614. S2CID   10281349.
• Chiba H, Muramatsu M, Nomoto A, Kato H (May 1994). "Two human homologues of Saccharomyces cerevisiae SWI2/SNF2 and Drosophila brahma are transcriptional coactivators cooperating with the estrogen receptor and the retinoic acid receptor". Nucleic Acids Research. 22 (10): 1815–20. doi:10.1093/nar/22.10.1815. PMC   308079 . PMID   8208605.
• Muchardt C, Yaniv M (Nov 1993). "A human homologue of Saccharomyces cerevisiae SNF2/SWI2 and Drosophila brm genes potentiates transcriptional activation by the glucocorticoid receptor". The EMBO Journal. 12 (11): 4279–90. doi:10.1002/j.1460-2075.1993.tb06112.x. PMC   413724 . PMID   8223438.
• Muchardt C, Reyes JC, Bourachot B, Leguoy E, Yaniv M (Jul 1996). "The hbrm and BRG-1 proteins, components of the human SNF/SWI complex, are phosphorylated and excluded from the condensed chromosomes during mitosis". The EMBO Journal. 15 (13): 3394–402. doi:10.1002/j.1460-2075.1996.tb00705.x. PMC   451903 . PMID   8670841.
• Wang W, Xue Y, Zhou S, Kuo A, Cairns BR, Crabtree GR (Sep 1996). "Diversity and specialization of mammalian SWI/SNF complexes". Genes & Development. 10 (17): 2117–30. doi: 10.1101/gad.10.17.2117 . PMID   8804307.
• 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.
• Ichinose H, Garnier JM, Chambon P, Losson R (Mar 1997). "Ligand-dependent interaction between the estrogen receptor and the human homologues of SWI2/SNF2". Gene. 188 (1): 95–100. doi:10.1016/S0378-1119(96)00785-8. PMID   9099865.
• 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.
• Thaete C, Brett D, Monaghan P, Whitehouse S, Rennie G, Rayner E, Cooper CS, Goodwin G (Apr 1999). "Functional domains of the SYT and SYT-SSX synovial sarcoma translocation proteins and co-localization with the SNF protein BRM in the nucleus". Human Molecular Genetics. 8 (4): 585–91. doi: 10.1093/hmg/8.4.585 . PMID   10072425.
• Phelan ML, Sif S, Narlikar GJ, Kingston RE (Feb 1999). "Reconstitution of a core chromatin remodeling complex from SWI/SNF subunits". Molecular Cell. 3 (2): 247–53. doi: 10.1016/S1097-2765(00)80315-9 . PMID   10078207.
• Lee DW, Zhang K, Ning ZQ, Raabe EH, Tintner S, Wieland R, Wilkins BJ, Kim JM, Blough RI, Arceci RJ (Jul 2000). "Proliferation-associated SNF2-like gene (PASG): a SNF2 family member altered in leukemia". Cancer Research. 60 (13): 3612–22. PMID   10910076.
• Phelan ML, Schnitzler GR, Kingston RE (Sep 2000). "Octamer transfer and creation of stably remodeled nucleosomes by human SWI-SNF and its isolated ATPases". Molecular and Cellular Biology. 20 (17): 6380–9. doi:10.1128/MCB.20.17.6380-6389.2000. PMC   86113 . PMID   10938115.
• Xue Y, Canman JC, Lee CS, Nie Z, Yang D, Moreno GT, Young MK, Salmon ED, Wang W (Nov 2000). "The human SWI/SNF-B chromatin-remodeling complex is related to yeast rsc and localizes at kinetochores of mitotic chromosomes". Proceedings of the National Academy of Sciences of the United States of America. 97 (24): 13015–20. Bibcode:2000PNAS...9713015X. doi: 10.1073/pnas.240208597 . PMC   27170 . PMID   11078522.
• Machida Y, Murai K, Miyake K, Iijima S (Jan 2001). "Expression of chromatin remodeling factors during neural differentiation". Journal of Biochemistry. 129 (1): 43–9. doi:10.1093/oxfordjournals.jbchem.a002834. PMID   11134956.
• de la Serna IL, Carlson KA, Imbalzano AN (Feb 2001). "Mammalian SWI/SNF complexes promote MyoD-mediated muscle differentiation". Nature Genetics. 27 (2): 187–90. doi:10.1038/84826. PMID   11175787. S2CID   20495742.
• Ruhf ML, Braun A, Papoulas O, Tamkun JW, Randsholt N, Meister M (Apr 2001). "The domino gene of Drosophila encodes novel members of the SWI2/SNF2 family of DNA-dependent ATPases, which contribute to the silencing of homeotic genes". Development. 128 (8): 1429–41. doi:10.1242/dev.128.8.1429. PMID   11262242.
• Strobeck MW, Reisman DN, Gunawardena RW, Betz BL, Angus SP, Knudsen KE, Kowalik TF, Weissman BE, Knudsen ES (Feb 2002). "Compensation of BRG-1 function by Brm: insight into the role of the core SWI-SNF subunits in retinoblastoma tumor suppressor signaling". The Journal of Biological Chemistry. 277 (7): 4782–9. doi: 10.1074/jbc.M109532200 . PMID   11719516.
• Kato H, Tjernberg A, Zhang W, Krutchinsky AN, An W, Takeuchi T, Ohtsuki Y, Sugano S, de Bruijn DR, Chait BT, Roeder RG (Feb 2002). "SYT associates with human SNF/SWI complexes and the C-terminal region of its fusion partner SSX1 targets histones". The Journal of Biological Chemistry. 277 (7): 5498–505. doi: 10.1074/jbc.M108702200 . PMID   11734557.
• Mizutani T, Ito T, Nishina M, Yamamichi N, Watanabe A, Iba H (May 2002). "Maintenance of integrated proviral gene expression requires Brm, a catalytic subunit of SWI/SNF complex". The Journal of Biological Chemistry. 277 (18): 15859–64. doi: 10.1074/jbc.M112421200 . PMID   11850427.