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Details on Person UniProt:Q8TAQ2 SMARCC2

Class:Id	ReferenceGeneProduct:248687
_chainChangeLog	chain:1-1214 added on Sat February 7 2015
_displayName	UniProt:Q8TAQ2 SMARCC2
_timestamp	2024-11-03 19:38:53
chain	chain:1-1214
checksum	EEFC1042A9296320
comment	FUNCTION Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:11018012). Can stimulate the ATPase activity of the catalytic subunit of these complexes (PubMed:10078207). May be required for CoREST dependent repression of neuronal specific gene promoters in non-neuronal cells (PubMed:12192000). 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 postmitotic 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 postmitotic 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). Critical regulator of myeloid differentiation, controlling granulocytopoiesis and the expression of genes involved in neutrophil granule formation (By similarity).SUBUNIT Component of the multiprotein chromatin-remodeling complexes SWI/SNF: SWI/SNF-A (BAF), SWI/SNF-B (PBAF) and related complexes. The canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B) and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific (Probable). Component of the BAF complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM, SMARCA4/BRG1, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3 (PubMed:18765789). Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin. Component of the SWI/SNF-B (PBAF) chromatin remodeling complex, at least composed of SMARCA4/BRG1, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PBRM1/BAF180, ARID2/BAF200 and actin (PubMed:22952240, PubMed:26601204). May also interact with the SIN3A histone deacetylase transcription repressor complex in conjunction with SMARCA2 and SMARCA4 (PubMed:11238380). Interacts with SMARD1 (PubMed:12917342). Interacts with KDM6B (By similarity). Interaction with RCOR1 (PubMed:12192000). Interacts with DPF2 (PubMed:28533407). Interacts with ERCC6 (PubMed:24874740). Interacts with FOS (By similarity).INTERACTION Ubiquitously expressed.PTM Mono-ADP-ribosylation at Lys-312 by SIRT6 promotes recruitment to the enhancer region of the Heme oxygenase-1 (HO-1) locus, leading to transcription activation of the locus.DISEASE The disease may be caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the SMARCC family.SEQUENCE CAUTION Extended N-terminus.
created	[InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
description	recommendedName: SWI/SNF complex subunit SMARCC2 alternativeName: BRG1-associated factor 170 shortName: BAF170 alternativeName: SWI/SNF complex 170 kDa subunit alternativeName: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 2
geneName	SMARCC2 BAF170
identifier	Q8TAQ2
isSequenceChanged	FALSE
keyword	3D-structure Acetylation ADP-ribosylation Alternative splicing Chromatin regulator Coiled coil Disease variant Intellectual disability Isopeptide bond Neurogenesis Nucleus Phosphoprotein Proteomics identification Reference proteome Transcription Transcription regulation Ubl conjugation
modified	[InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03
name	SMARCC2
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:9000323] ENSEMBL:ENSG00000139613 SMARCC2 [Homo sapiens]
secondaryIdentifier	SMRC2_HUMAN F8VTJ5 Q59GV3 Q92923 Q96E12 Q96GY4
sequenceLength	1214
species	[Species:48887] Homo sapiens
(isoformParent)	[ReferenceIsoform:248688] UniProt:Q8TAQ2-2 SMARCC2 [Homo sapiens] [ReferenceIsoform:411796] UniProt:Q8TAQ2-1 SMARCC2 [Homo sapiens] [ReferenceIsoform:8974053] UniProt:Q8TAQ2-3 SMARCC2 [Homo sapiens]
(referenceEntity)	[EntityWithAccessionedSequence:389263] SMARCC2 [nucleoplasm] [Homo sapiens]
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No pathways have been reviewed or authored by UniProt:Q8TAQ2 SMARCC2 (248687)