| Tbio | SWI/SNF complex subunit SMARCC2 |
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Can stimulate the ATPase activity of the catalytic subunit of these complexes. May be required for CoREST dependent repression of neuronal specific gene promoters in non-neuronal cells. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity).
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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| ovarian cancer | 8491 | 1.4e-07 |
| Pick disease | 1893 | 1.7e-06 |
| oligodendroglioma | 2849 | 9.6e-04 |
| progressive supranuclear palsy | 674 | 8.8e-03 |
| astrocytic glioma | 2241 | 9.1e-03 |
| ependymoma | 2514 | 2.2e-02 |
| Rheumatoid Arthritis | 1170 | 3.6e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Coffin-Siris syndrome | 17 | 3.428 | 1.7 |
| triple-A syndrome | 18 | 3.177 | 1.6 |
| Disease | log2 FC | p |
|---|---|---|
| Rheumatoid Arthritis | 1.200 | 3.6e-02 |
| astrocytic glioma | 1.300 | 9.1e-03 |
| ependymoma | 1.300 | 2.2e-02 |
| oligodendroglioma | 1.800 | 9.6e-04 |
| Pick disease | 1.300 | 1.7e-06 |
| progressive supranuclear palsy | 1.200 | 8.8e-03 |
| ovarian cancer | -1.200 | 1.4e-07 |
| PMID | Text | |
|---|---|---|
| 23030715 | Identification of frameshift mutations in the SMARCC2 gene in gastric and colorectal cancers with microsatellite instability. | |
| 21699904 | study finds Baf53 and Baf170 are highly regulated in HIV-1-infected cells | |
| 19454010 | Most of the components of the SWI2/SNF2 chromatin remodeling complex (BRG1/BRM, BAF250, BAF180, BAF170, BAF155, BAF60a, BAF53A, actin and InI) except BRM, BAF155 and BAF57, are identified to interact with HIV-1 Tat in Jurkat cell | |
| 16199878 | protein levels of BAF155/170 dictate the maximum cellular amount of BAF57 |
MAVRKKDGGPNVKYYEAADTVTQFDNVRLWLGKNYKKYIQAEPPTNKSLSSLVVQLLQFQEEVFGKHVSN 1 - 70 APLTKLPIKCFLDFKAGGSLCHILAAAYKFKSDQGWRRYDFQNPSRMDRNVEMFMTIEKSLVQNNCLSRP 71 - 140 NIFLCPEIEPKLLGKLKDIIKRHQGTVTEDKNNASHVVYPVPGNLEEEEWVRPVMKRDKQVLLHWGYYPD 141 - 210 SYDTWIPASEIEASVEDAPTPEKPRKVHAKWILDTDTFNEWMNEEDYEVNDDKNPVSRRKKISAKTLTDE 211 - 280 VNSPDSDRRDKKGGNYKKRKRSPSPSPTPEAKKKNAKKGPSTPYTKSKRGHREEEQEDLTKDMDEPSPVP 281 - 350 NVEEVTLPKTVNTKKDSESAPVKGGTMTDLDEQEDESMETTGKDEDENSTGNKGEQTKNPDLHEDNVTEQ 351 - 420 THHIIIPSYAAWFDYNSVHAIERRALPEFFNGKNKSKTPEIYLAYRNFMIDTYRLNPQEYLTSTACRRNL 421 - 490 AGDVCAIMRVHAFLEQWGLINYQVDAESRPTPMGPPPTSHFHVLADTPSGLVPLQPKTPQQTSASQQMLN 491 - 560 FPDKGKEKPTDMQNFGLRTDMYTKKNVPSKSKAAASATREWTEQETLLLLEALEMYKDDWNKVSEHVGSR 561 - 630 TQDECILHFLRLPIEDPYLEDSEASLGPLAYQPIPFSQSGNPVMSTVAFLASVVDPRVASAAAKSALEEF 631 - 700 SKMKEEVPTALVEAHVRKVEEAAKVTGKADPAFGLESSGIAGTTSDEPERIEESGNDEARVEGQATDEKK 701 - 770 EPKEPREGGGAIEEEAKEKTSEAPKKDEEKGKEGDSEKESEKSDGDPIVDPEKEKEPKEGQEEVLKEVVE 771 - 840 SEGERKTKVERDIGEGNLSTAAAAALAAAAVKAKHLAAVEERKIKSLVALLVETQMKKLEIKLRHFEELE 841 - 910 TIMDREREALEYQRQQLLADRQAFHMEQLKYAEMRARQQHFQQMHQQQQQPPPALPPGSQPIPPTGAAGP 911 - 980 PAVHGLAVAPASVVPAPAGSGAPPGSLGPSEQIGQAGSTAGPQQQQPAGAPQPGAVPPGVPPPGPHGPSP 981 - 1050 FPNQQTPPSMMPGAVPGSGHPGVAGNAPLGLPFGMPPPPPPPAPSIIPFGSLADSISINLPAPPNLHGHH 1051 - 1120 HHLPFAPGTLPPPNLPVSMANPLHPNLPATTTMPSSLPLGPGLGSAAAQSPAIVAAVQGNLLPSASPLPD 1121 - 1190 PGTPLPPDPTAPSPGTVTPVPPPQ 1191 - 1214 //
| PMID | Year | Title | |
|---|---|---|---|
| 25772364 | 2015 | SUMO-2 Orchestrates Chromatin Modifiers in Response to DNA Damage. | |
| 25755297 | 2015 | System-wide Analysis of SUMOylation Dynamics in Response to Replication Stress Reveals Novel Small Ubiquitin-like Modified Target Proteins and Acceptor Lysines Relevant for Genome Stability. | |
| 24275569 | 2014 | An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. | |
| 23186163 | 2013 | Toward a comprehensive characterization of a human cancer cell phosphoproteome. | |
| 23030715 | 2013 | Frameshift mutations of a chromatin-remodeling gene SMARCC2 in gastric and colorectal cancers with microsatellite instability. | |
| 21699904 | 2011 | Varying modulation of HIV-1 LTR activity by Baf complexes. | |
| 21406692 | 2011 | System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. | |
| 21269460 | 2011 | Initial characterization of the human central proteome. | |
| 21044950 | 2011 | Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells. | |
| 20068231 | 2010 | Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. | |
| 19690332 | 2009 | Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. | |
| 19608861 | 2009 | Lysine acetylation targets protein complexes and co-regulates major cellular functions. | |
| 18765789 | 2008 | Regulation of muscle development by DPF3, a novel histone acetylation and methylation reader of the BAF chromatin remodeling complex. | |
| 18669648 | 2008 | A quantitative atlas of mitotic phosphorylation. | |
| 18029348 | 2008 | Toward a confocal subcellular atlas of the human proteome. | |
| 17474147 | 2007 | Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening. | |
| 17081983 | 2006 | Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. | |
| 16713569 | 2006 | A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. | |
| 16541075 | 2006 | The finished DNA sequence of human chromosome 12. | |
| 16344560 | 2006 | Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. | |
| 16217013 | 2005 | Heterogeneous nuclear ribonucleoprotein C1/C2, MeCP1, and SWI/SNF form a chromatin remodeling complex at the beta-globin locus control region. | |
| 16199878 | 2005 | Regulating SWI/SNF subunit levels via protein-protein interactions and proteasomal degradation: BAF155 and BAF170 limit expression of BAF57. | |
| 16169070 | 2005 | A human protein-protein interaction network: a resource for annotating the proteome. | |
| 15489334 | 2004 | The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). | |
| 15345747 | 2004 | Phosphoproteomic analysis of the developing mouse brain. | |
| 15302935 | 2004 | Large-scale characterization of HeLa cell nuclear phosphoproteins. | |
| 14743216 | 2004 | A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway. | |
| 12917342 | 2003 | BAF60a mediates critical interactions between nuclear receptors and the BRG1 chromatin-remodeling complex for transactivation. | |
| 12665591 | 2003 | Novel SWI/SNF chromatin-remodeling complexes contain a mixed-lineage leukemia chromosomal translocation partner. | |
| 12477932 | 2002 | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | |
| 12368262 | 2002 | Identification of a polymorphic, neuron-specific chromatin remodeling complex. | |
| 12192000 | 2002 | REST repression of neuronal genes requires components of the hSWI.SNF complex. | |
| 11734557 | 2002 | SYT associates with human SNF/SWI complexes and the C-terminal region of its fusion partner SSX1 targets histones. | |
| 11726552 | 2001 | Fanconi anemia protein, FANCA, associates with BRG1, a component of the human SWI/SNF complex. | |
| 11238380 | 2001 | Purification and characterization of mSin3A-containing Brg1 and hBrm chromatin remodeling complexes. | |
| 11078522 | 2000 | The human SWI/SNF-B chromatin-remodeling complex is related to yeast rsc and localizes at kinetochores of mitotic chromosomes. | |
| 11018012 | 2000 | Functional selectivity of recombinant mammalian SWI/SNF subunits. | |
| 10078207 | 1999 | Reconstitution of a core chromatin remodeling complex from SWI/SNF subunits. | |
| 9710619 | 1998 | A human RNA polymerase II complex containing factors that modify chromatin structure. | |
| 9693044 | 1998 | Five SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin (SMARC) genes are dispersed in the human genome. | |
| 9435219 | 1998 | Architectural DNA binding by a high-mobility-group/kinesin-like subunit in mammalian SWI/SNF-related complexes. | |
| 8895581 | 1996 | Purification and biochemical heterogeneity of the mammalian SWI-SNF complex. | |
| 8889548 | 1996 | Normalization and subtraction: two approaches to facilitate gene discovery. | |
| 8804307 | 1996 | Diversity and specialization of mammalian SWI/SNF complexes. |
