SMARCC2

SMARCC2
Identifiers
Aliases	SMARCC2 , BAF170, CRACC2, Rsc8, SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2, CSS8
External IDs	OMIM: 601734; MGI: 1915344; HomoloGene: 2312; GeneCards: SMARCC2; OMA:SMARCC2 - orthologs
Gene location (Human) Chr. Chromosome 12 (human) [1] Band 12q13.2 Start 56,162,359 bp [1] End 56,189,567 bp [1]
Gene location (Mouse) Chr. Chromosome 10 (mouse) [2] Band 10|10 D3 Start 128,295,117 bp [2] End 128,326,351 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone ganglionic eminence left ovary right lobe of thyroid gland right ovary right hemisphere of cerebellum sural nerve body of uterus left lobe of thyroid gland canal of the cervix Top expressed in genital tubercle neural layer of retina primary visual cortex cerebellar cortex superior frontal gyrus dentate gyrus of hippocampal formation granule cell tail of embryo ventricular zone suprachiasmatic nucleus zygote More reference expression data BioGPS More reference expression data
Gene ontology Molecular function RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA binding transcription coactivator activity protein binding nucleosomal DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific histone binding Cellular component transcription repressor complex nucleoplasm nucleus SWI/SNF complex npBAF complex nBAF complex protein-containing complex Biological process regulation of transcription, DNA-templated transcription, DNA-templated nervous system development positive regulation of transcription, DNA-templated nucleosome disassembly negative regulation of transcription, DNA-templated chromatin remodeling regulation of transcription by RNA polymerase II chromatin organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6601 68094 Ensembl ENSG00000139613 ENSMUSG00000025369 UniProt Q8TAQ2 Q6PDG5 RefSeq (mRNA) NM_001130420 NM_003075 NM_139067 NM_001330288 NM_001114096 NM_001114097 NM_198160 NM_001372395 RefSeq (protein) NP_001123892 NP_001317217 NP_003066 NP_620706 NP_001107568 NP_001107569 NP_937803 NP_001359324 Location (UCSC) Chr 12: 56.16 – 56.19 Mb Chr 10: 128.3 – 128.33 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

SWI/SNF complex subunit SMARCC2 is a protein that in humans is encoded by the SMARCC2 gene. ^{[5] [6] [7]}

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 which 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 and contains a predicted leucine zipper motif typical of many transcription factors. Two transcript variants encoding different isoforms have been found for this gene. ^[7]

Interactions

SMARCC2 has been shown to interact with BAZ1B ^[8] and SMARCA4. ^{[9] [10] [11]}

References

1. GRCh38: Ensembl release 89: ENSG00000139613 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000025369 – 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. Wang W, Xue Y, Zhou S, Kuo A, Cairns BR, Crabtree GR (November 1996). "Diversity and specialization of mammalian SWI/SNF complexes". Genes Dev. 10 (17): 2117–30. doi: 10.1101/gad.10.17.2117 . PMID   8804307.
6. Ring HZ, Vameghi-Meyers V, Wang W, Crabtree GR, Francke U (September 1998). "Five SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin (SMARC) genes are dispersed in the human genome". Genomics. 51 (1): 140–3. doi: 10.1006/geno.1998.5343 . PMID   9693044.
7. "Entrez Gene: SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2".
8. Kitagawa H, Fujiki R, Yoshimura K, Mezaki Y, Uematsu Y, Matsui D, Ogawa S, Unno K, Okubo M, Tokita A, Nakagawa T, Ito T, Ishimi Y, Nagasawa H, Matsumoto T, Yanagisawa J, Kato S (June 2003). "The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome". Cell. 113 (7): 905–17. doi: 10.1016/S0092-8674(03)00436-7 . PMID   12837248. (Retracted, see doi:10.1016/j.cell.2012.03.008, PMID   22464333,  Retraction Watch . If this is an intentional citation to a retracted paper, please replace {{ retracted |...}} with {{ retracted |...|intentional=yes}}.)
9. Wang W, Côté J, Xue Y, Zhou S, Khavari PA, Biggar SR, Muchardt C, Kalpana GV, Goff SP, Yaniv M, Workman JL, Crabtree GR (October 1996). "Purification and biochemical heterogeneity of the mammalian SWI-SNF complex". EMBO J. 15 (19): 5370–82. doi:10.1002/j.1460-2075.1996.tb00921.x. PMC   452280 . PMID   8895581.
10. Otsuki T, Furukawa Y, Ikeda K, Endo H, Yamashita T, Shinohara A, Iwamatsu A, Ozawa K, Liu JM (November 2001). "Fanconi anemia protein, FANCA, associates with BRG1, a component of the human SWI/SNF complex". Hum. Mol. Genet. 10 (23). England: 2651–60. doi: 10.1093/hmg/10.23.2651 . ISSN   0964-6906. PMID   11726552.
11. Zhao K, Wang W, Rando OJ, Xue Y, Swiderek K, Kuo A, Crabtree GR (November 1998). "Rapid and phosphoinositol-dependent binding of the SWI/SNF-like BAF complex to chromatin after T lymphocyte receptor signaling". Cell. 95 (5): 625–36. doi: 10.1016/S0092-8674(00)81633-5 . PMID   9845365. S2CID   3184211.

Further reading

• Wang W, Côté J, Xue Y, Zhou S, Khavari PA, Biggar SR, Muchardt C, Kalpana GV, Goff SP, Yaniv M, Workman JL, Crabtree GR (1996). "Purification and biochemical heterogeneity of the mammalian SWI-SNF complex". EMBO J. 15 (19): 5370–82. doi:10.1002/j.1460-2075.1996.tb00921.x. PMC   452280 . PMID   8895581.
• Wang W, Chi T, Xue Y, Zhou S, Kuo A, Crabtree GR (1998). "Architectural DNA binding by a high-mobility-group/kinesin-like subunit in mammalian SWI/SNF-related complexes". Proc. Natl. Acad. Sci. U.S.A. 95 (2): 492–8. Bibcode:1998PNAS...95..492W. doi: 10.1073/pnas.95.2.492 . PMC   18447 . PMID   9435219.
• Cho H, Orphanides G, Sun X, Yang XJ, Ogryzko V, Lees E, Nakatani Y, Reinberg D (1998). "A Human RNA Polymerase II Complex Containing Factors That Modify Chromatin Structure". Mol. Cell. Biol. 18 (9): 5355–63. doi:10.1128/MCB.18.9.5355. PMC   109120 . PMID   9710619.
• Phelan ML, Sif S, Narlikar GJ, Kingston RE (1999). "Reconstitution of a core chromatin remodeling complex from SWI/SNF subunits". Mol. Cell. 3 (2): 247–53. doi: 10.1016/S1097-2765(00)80315-9 . PMID   10078207.
• Bochar DA, Wang L, Beniya H, Kinev A, Xue Y, Lane WS, Wang W, Kashanchi F, Shiekhattar R (2000). "BRCA1 is associated with a human SWI/SNF-related complex: linking chromatin remodeling to breast cancer". Cell. 102 (2): 257–65. doi: 10.1016/S0092-8674(00)00030-1 . PMID   10943845. S2CID   6500100.
• Kadam S, McAlpine GS, Phelan ML, Kingston RE, Jones KA, Emerson BM (2000). "Functional selectivity of recombinant mammalian SWI/SNF subunits". Genes Dev. 14 (19): 2441–51. doi:10.1101/gad.828000. PMC   316972 . PMID   11018012.
• Xue Y, Canman JC, Lee CS, Nie Z, Yang D, Moreno GT, Young MK, Salmon ED, Wang W (2001). "The human SWI/SNF-B chromatin-remodeling complex is related to yeast Rsc and localizes at kinetochores of mitotic chromosomes". Proc. Natl. Acad. Sci. U.S.A. 97 (24): 13015–20. Bibcode:2000PNAS...9713015X. doi: 10.1073/pnas.240208597 . PMC   27170 . PMID   11078522.
• Sif S, Saurin AJ, Imbalzano AN, Kingston RE (2001). "Purification and characterization of mSin3A-containing Brg1 and hBrm chromatin remodeling complexes". Genes Dev. 15 (5): 603–18. doi:10.1101/gad.872801. PMC   312641 . PMID   11238380.
• Kato H, Tjernberg A, Zhang W, Krutchinsky AN, An W, Takeuchi T, Ohtsuki Y, Sugano S, de Bruijn DR, Chait BT, Roeder RG (2002). "SYT associates with human SNF/SWI complexes and the C-terminal region of its fusion partner SSX1 targets histones". J. Biol. Chem. 277 (7): 5498–505. doi: 10.1074/jbc.M108702200 . hdl: 2066/170683 . PMID   11734557.
• Battaglioli E, Andrés ME, Rose DW, Chenoweth JG, Rosenfeld MG, Anderson ME, Mandel G (2002). "REST repression of neuronal genes requires components of the hSWI.SNF complex". J. Biol. Chem. 277 (43): 41038–45. doi: 10.1074/jbc.M205691200 . PMID   12192000.
• Olave I, Wang W, Xue Y, Kuo A, Crabtree GR (2002). "Identification of a polymorphic, neuron-specific chromatin remodeling complex". Genes Dev. 16 (19): 2509–17. doi:10.1101/gad.992102. PMC   187451 . PMID   12368262.
• Nie Z, Yan Z, Chen EH, Sechi S, Ling C, Zhou S, Xue Y, Yang D, Murray D, Kanakubo E, Cleary ML, Wang W (2003). "Novel SWI/SNF Chromatin-Remodeling Complexes Contain a Mixed-Lineage Leukemia Chromosomal Translocation Partner". Mol. Cell. Biol. 23 (8): 2942–52. doi:10.1128/MCB.23.8.2942-2952.2003. PMC   152562 . PMID   12665591.
• Kitagawa H, Fujiki R, Yoshimura K, Mezaki Y, Uematsu Y, Matsui D, Ogawa S, Unno K, Okubo M, Tokita A, Nakagawa T, Ito T, Ishimi Y, Nagasawa H, Matsumoto T, Yanagisawa J, Kato S (2003). "The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome". Cell. 113 (7): 905–17. doi: 10.1016/S0092-8674(03)00436-7 . PMID   12837248. (Retracted, see doi:10.1016/j.cell.2012.03.008, PMID   22464333,  Retraction Watch . If this is an intentional citation to a retracted paper, please replace {{ retracted |...}} with {{ retracted |...|intentional=yes}}.)
• Hsiao PW, Fryer CJ, Trotter KW, Wang W, Archer TK (2003). "BAF60a Mediates Critical Interactions between Nuclear Receptors and the BRG1 Chromatin-Remodeling Complex for Transactivation". Mol. Cell. Biol. 23 (17): 6210–20. doi:10.1128/MCB.23.17.6210-6220.2003. PMC   180928 . PMID   12917342.
• Bouwmeester T, Bauch A, Ruffner H, Angrand PO, Bergamini G, Croughton K, Cruciat C, Eberhard D, Gagneur J, Ghidelli S, Hopf C, Huhse B, Mangano R, Michon AM, Schirle M, Schlegl J, Schwab M, Stein MA, Bauer A, Casari G, Drewes G, Gavin AC, Jackson DB, Joberty G, Neubauer G, Rick J, Kuster B, Superti-Furga G (2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway". Nat. Cell Biol. 6 (2): 97–105. doi:10.1038/ncb1086. PMID   14743216. S2CID   11683986.
• Kuwabara T, Hsieh J, Nakashima K, Taira K, Gage FH (2004). "A small modulatory dsRNA specifies the fate of adult neural stem cells". Cell. 116 (6): 779–93. doi: 10.1016/S0092-8674(04)00248-X . PMID   15035981. S2CID   12656737.
• Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi: 10.1073/pnas.0404720101 . PMC   514446 . PMID   15302935.

External links

• FactorBook BAF170