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Protein

Probable global transcription activator SNF2L2

Gene

SMARCA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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. Binds DNA non-specifically (PubMed:22952240, PubMed:26601204). 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).2 PublicationsBy similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi749 – 756ATPPROSITE-ProRule annotation8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • chromatin binding Source: Ensembl
  • DNA-dependent ATPase activity Source: BHF-UCL
  • helicase activity Source: ProtInc
  • histone binding Source: InterPro
  • transcription coactivator activity Source: UniProtKB
  • transcription regulatory region DNA binding Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, DNA-binding, Helicase, Hydrolase
Biological processNeurogenesis, Transcription, Transcription regulation
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-3214858 RMTs methylate histone arginines
R-HSA-8939243 RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P51531

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Probable global transcription activator SNF2L2 (EC:3.6.4.-)
Alternative name(s):
ATP-dependent helicase SMARCA2
BRG1-associated factor 190B
Short name:
BAF190B
Protein brahma homolog
Short name:
hBRM
SNF2-alpha
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SMARCA2Imported
Synonyms:BAF190B, BRM, SNF2A, SNF2L2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000080503.20

Human Gene Nomenclature Database

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HGNCi
HGNC:11098 SMARCA2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
600014 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P51531

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Nicolaides-Baraitser syndrome (NCBRS)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare disorder characterized by severe mental retardation with absent or limited speech, seizures, short stature, sparse hair, typical facial characteristics, brachydactyly, prominent finger joints and broad distal phalanges. Some of the features are progressive with time.
See also OMIM:601358
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_068180752G → A in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875198EnsemblClinVar.1
Natural variantiVAR_068181755K → R in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875203EnsemblClinVar.1
Natural variantiVAR_068182756T → I in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875191EnsemblClinVar.1
Natural variantiVAR_068183851D → H in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875206EnsemblClinVar.1
Natural variantiVAR_068184852E → D in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875193EnsemblClinVar.1
Natural variantiVAR_068185852E → K in NCBRS. 2 PublicationsCorresponds to variant dbSNP:rs281875199EnsemblClinVar.1
Natural variantiVAR_068186854H → N in NCBRS. 1 Publication1
Natural variantiVAR_068187854H → R in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875202EnsemblClinVar.1
Natural variantiVAR_068188855R → G in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875207EnsemblClinVar.1
Natural variantiVAR_076936855R → Q in NCBRS. 1 Publication1
Natural variantiVAR_076937880T → I in NCBRS. 1 Publication1
Natural variantiVAR_068189881G → R in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875194EnsemblClinVar.1
Natural variantiVAR_068190881G → V in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875185EnsemblClinVar.1
Natural variantiVAR_068191883P → L in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875188EnsemblClinVar.1
Natural variantiVAR_068192939H → Y in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875190EnsemblClinVar.1
Natural variantiVAR_068193946L → F in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875205EnsemblClinVar.1
Natural variantiVAR_068194946L → S in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875200EnsemblClinVar.1
Natural variantiVAR_0681951105R → C in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875192EnsemblClinVar.1
Natural variantiVAR_0681961105R → P in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875197EnsemblClinVar.1
Natural variantiVAR_0681971135L → P in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875195EnsemblClinVar.1
Natural variantiVAR_0681981146S → R in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875204EnsemblClinVar.1
Natural variantiVAR_0681991158D → V in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875240EnsemblClinVar.1
Natural variantiVAR_0682001159R → G in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875184EnsemblClinVar.1
Natural variantiVAR_0682011159R → L in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875187EnsemblClinVar.1
Natural variantiVAR_0682021159R → Q in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875187EnsemblClinVar.1
Natural variantiVAR_0682031162R → H in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875186EnsemblClinVar.1
Natural variantiVAR_0682041188A → P in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875196EnsemblClinVar.1
Natural variantiVAR_0682051201A → V in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875189EnsemblClinVar.1
Natural variantiVAR_0682061202G → C in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875239EnsemblClinVar.1
Natural variantiVAR_0682071205D → G in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875201EnsemblClinVar.1
Natural variantiVAR_0682081213R → W in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875238EnsemblClinVar.1
Natural variantiVAR_0788151241Q → E in NCBRS. 1 Publication1
Schizophrenia (SCZD)1 Publication
Disease susceptibility may be associated with variations affecting the gene represented in this entry.
Disease descriptionA complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder.
See also OMIM:181500

Keywords - Diseasei

Disease mutation, Hypotrichosis, Mental retardation, Schizophrenia

Organism-specific databases

DisGeNET

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DisGeNETi
6595

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
SMARCA2

MalaCards human disease database

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MalaCardsi
SMARCA2
MIMi181500 phenotype
601358 phenotype

Open Targets

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OpenTargetsi
ENSG00000080503

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
3051 Intellectual disability-sparse hair-brachydactyly syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA35948

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL2362979

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
SMARCA2

Domain mapping of disease mutations (DMDM)

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DMDMi
212276472

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000743521 – 1590Probable global transcription activator SNF2L2Add BLAST1590

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei172PhosphoserineCombined sources1
Modified residuei175PhosphoserineCombined sources1
Modified residuei190N6-acetyllysineBy similarity1
Modified residuei316PhosphoserineBy similarity1
Modified residuei329PhosphoserineCombined sources1
Modified residuei588PhosphoserineBy similarity1
Modified residuei591PhosphoserineCombined sources1
Modified residuei604N6-acetyllysineBy similarity1
Modified residuei666PhosphoserineCombined sources1
Modified residuei670PhosphoserineBy similarity1
Modified residuei997N6-acetyllysineCombined sources1
Modified residuei999N6-acetyllysineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki1302Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity
Modified residuei1377PhosphoserineCombined sources1
Modified residuei1512PhosphoserineCombined sources1
Modified residuei1516PhosphoserineCombined sources1
Modified residuei1528PhosphoserineCombined sources1
Modified residuei1568PhosphoserineCombined sources1
Modified residuei1572PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P51531

MaxQB - The MaxQuant DataBase

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MaxQBi
P51531

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P51531

PeptideAtlas

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PeptideAtlasi
P51531

PRoteomics IDEntifications database

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PRIDEi
P51531

ProteomicsDB human proteome resource

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ProteomicsDBi
56325
56326 [P51531-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P51531

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P51531

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
P51531

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000080503 Expressed in 237 organ(s), highest expression level in testis

CleanEx database of gene expression profiles

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CleanExi
HS_SMARCA2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P51531 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P51531 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB037276
HPA029981

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C (PubMed:18765789). In muscle cells, the BAF complex also contains DPF3. 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. Interacts with PHF10/BAF45A (By similarity). Interacts with CEBPB (when not methylated)(PubMed:20111005). Interacts with TOPBP1 (PubMed:15075294). Interacts with CEBPA (when phosphorylated) (PubMed:15107404). Interacts with DPF2 (PubMed:20460684).2 PublicationsBy similarity5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112479, 119 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-1164 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA2 variant
CPX-1194 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA2 variant
CPX-1201 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant
CPX-1202 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant
CPX-1203 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant
CPX-1205 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA2 variant
CPX-1207 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA2 variant
CPX-1210 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA2 variant
CPX-1213 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant
CPX-1217 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant
CPX-1220 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant
CPX-1223 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA2 variant
CPX-1225 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA2 variant
CPX-1227 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA2 variant

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P51531

Database of interacting proteins

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DIPi
DIP-29005N

Protein interaction database and analysis system

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IntActi
P51531, 45 interactors

Molecular INTeraction database

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MINTi
P51531

STRING: functional protein association networks

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STRINGi
9606.ENSP00000265773

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P51531

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11590
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P51531

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P51531

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P51531

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini173 – 208QLQPROSITE-ProRule annotationAdd BLAST36
Domaini436 – 508HSAPROSITE-ProRule annotationAdd BLAST73
Domaini736 – 901Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST166
Domaini1054 – 1216Helicase C-terminalPROSITE-ProRule annotationAdd BLAST163
Domaini1419 – 1489BromoPROSITE-ProRule annotationAdd BLAST71

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi851 – 854DEGH box4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi216 – 238Poly-GlnAdd BLAST23
Compositional biasi245 – 253Poly-Gln9
Compositional biasi559 – 562Poly-Arg4
Compositional biasi643 – 650Poly-Glu8
Compositional biasi1297 – 1301Poly-Glu5
Compositional biasi1518 – 1529Poly-GluAdd BLAST12

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the SNF2/RAD54 helicase family.Curated

Keywords - Domaini

Bromodomain

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0386 Eukaryota
COG0553 LUCA
COG5076 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000154821

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000172363

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG056636

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P51531

KEGG Orthology (KO)

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KOi
K11647

Identification of Orthologs from Complete Genome Data

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OMAi
HHFNIEK

Database of Orthologous Groups

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OrthoDBi
EOG091G01R9

Database for complete collections of gene phylogenies

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PhylomeDBi
P51531

TreeFam database of animal gene trees

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TreeFami
TF300785

Family and domain databases

Conserved Domains Database

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CDDi
cd00079 HELICc, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.20.920.10, 1 hit
2.20.28.130, 1 hit
3.40.50.10810, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR006576 BRK_domain
IPR037259 BRK_sf
IPR001487 Bromodomain
IPR036427 Bromodomain-like_sf
IPR018359 Bromodomain_CS
IPR014978 Gln-Leu-Gln_QLQ
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR014012 HSA_dom
IPR027417 P-loop_NTPase
IPR030088 SMARCA2
IPR029295 SnAC
IPR038718 SNF2-like_sf
IPR000330 SNF2_N

The PANTHER Classification System

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PANTHERi
PTHR10799:SF541 PTHR10799:SF541, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF07533 BRK, 1 hit
PF00439 Bromodomain, 1 hit
PF00271 Helicase_C, 1 hit
PF07529 HSA, 1 hit
PF08880 QLQ, 1 hit
PF14619 SnAC, 1 hit
PF00176 SNF2_N, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00503 BROMODOMAIN

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00592 BRK, 1 hit
SM00297 BROMO, 1 hit
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SM00573 HSA, 1 hit
SM00951 QLQ, 1 hit
SM01314 SnAC, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF160481 SSF160481, 1 hit
SSF47370 SSF47370, 1 hit
SSF52540 SSF52540, 2 hits

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00633 BROMODOMAIN_1, 1 hit
PS50014 BROMODOMAIN_2, 1 hit
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit
PS51204 HSA, 1 hit
PS51666 QLQ, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 34 potential isoforms that are computationally mapped.Show allAlign All

Isoform Long (identifier: P51531-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSTPTDPGAM PHPGPSPGPG PSPGPILGPS PGPGPSPGSV HSMMGPSPGP
60 70 80 90 100
PSVSHPMPTM GSTDFPQEGM HQMHKPIDGI HDKGIVEDIH CGSMKGTGMR
110 120 130 140 150
PPHPGMGPPQ SPMDQHSQGY MSPHPSPLGA PEHVSSPMSG GGPTPPQMPP
160 170 180 190 200
SQPGALIPGD PQAMSQPNRG PSPFSPVQLH QLRAQILAYK MLARGQPLPE
210 220 230 240 250
TLQLAVQGKR TLPGLQQQQQ QQQQQQQQQQ QQQQQQQQPQ QQPPQPQTQQ
260 270 280 290 300
QQQPALVNYN RPSGPGPELS GPSTPQKLPV PAPGGRPSPA PPAAAQPPAA
310 320 330 340 350
AVPGPSVPQP APGQPSPVLQ LQQKQSRISP IQKPQGLDPV EILQEREYRL
360 370 380 390 400
QARIAHRIQE LENLPGSLPP DLRTKATVEL KALRLLNFQR QLRQEVVACM
410 420 430 440 450
RRDTTLETAL NSKAYKRSKR QTLREARMTE KLEKQQKIEQ ERKRRQKHQE
460 470 480 490 500
YLNSILQHAK DFKEYHRSVA GKIQKLSKAV ATWHANTERE QKKETERIEK
510 520 530 540 550
ERMRRLMAED EEGYRKLIDQ KKDRRLAYLL QQTDEYVANL TNLVWEHKQA
560 570 580 590 600
QAAKEKKKRR RRKKKAEENA EGGESALGPD GEPIDESSQM SDLPVKVTHT
610 620 630 640 650
ETGKVLFGPE APKASQLDAW LEMNPGYEVA PRSDSEESDS DYEEEDEEEE
660 670 680 690 700
SSRQETEEKI LLDPNSEEVS EKDAKQIIET AKQDVDDEYS MQYSARGSQS
710 720 730 740 750
YYTVAHAISE RVEKQSALLI NGTLKHYQLQ GLEWMVSLYN NNLNGILADE
760 770 780 790 800
MGLGKTIQTI ALITYLMEHK RLNGPYLIIV PLSTLSNWTY EFDKWAPSVV
810 820 830 840 850
KISYKGTPAM RRSLVPQLRS GKFNVLLTTY EYIIKDKHIL AKIRWKYMIV
860 870 880 890 900
DEGHRMKNHH CKLTQVLNTH YVAPRRILLT GTPLQNKLPE LWALLNFLLP
910 920 930 940 950
TIFKSCSTFE QWFNAPFAMT GERVDLNEEE TILIIRRLHK VLRPFLLRRL
960 970 980 990 1000
KKEVESQLPE KVEYVIKCDM SALQKILYRH MQAKGILLTD GSEKDKKGKG
1010 1020 1030 1040 1050
GAKTLMNTIM QLRKICNHPY MFQHIEESFA EHLGYSNGVI NGAELYRASG
1060 1070 1080 1090 1100
KFELLDRILP KLRATNHRVL LFCQMTSLMT IMEDYFAFRN FLYLRLDGTT
1110 1120 1130 1140 1150
KSEDRAALLK KFNEPGSQYF IFLLSTRAGG LGLNLQAADT VVIFDSDWNP
1160 1170 1180 1190 1200
HQDLQAQDRA HRIGQQNEVR VLRLCTVNSV EEKILAAAKY KLNVDQKVIQ
1210 1220 1230 1240 1250
AGMFDQKSSS HERRAFLQAI LEHEEENEEE DEVPDDETLN QMIARREEEF
1260 1270 1280 1290 1300
DLFMRMDMDR RREDARNPKR KPRLMEEDEL PSWIIKDDAE VERLTCEEEE
1310 1320 1330 1340 1350
EKIFGRGSRQ RRDVDYSDAL TEKQWLRAIE DGNLEEMEEE VRLKKRKRRR
1360 1370 1380 1390 1400
NVDKDPAKED VEKAKKRRGR PPAEKLSPNP PKLTKQMNAI IDTVINYKDR
1410 1420 1430 1440 1450
CNVEKVPSNS QLEIEGNSSG RQLSEVFIQL PSRKELPEYY ELIRKPVDFK
1460 1470 1480 1490 1500
KIKERIRNHK YRSLGDLEKD VMLLCHNAQT FNLEGSQIYE DSIVLQSVFK
1510 1520 1530 1540 1550
SARQKIAKEE ESEDESNEEE EEEDEEESES EAKSVKVKIK LNKKDDKGRD
1560 1570 1580 1590
KGKGKKRPNR GKAKPVVSDF DSDEEQDERE QSEGSGTDDE
Length:1,590
Mass (Da):181,279
Last modified:November 4, 2008 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iCE69BBB287D35AB5
GO
Isoform Short (identifier: P51531-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1400-1417: Missing.

Show »
Length:1,572
Mass (Da):179,281
Checksum:iBBD4488C2861C270
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 34 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F6VDE0F6VDE0_HUMAN
Probable global transcription activ...
SMARCA2
1,514Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GWA8A0A1B0GWA8_HUMAN
Probable global transcription activ...
SMARCA2
279Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GU54A0A1B0GU54_HUMAN
Probable global transcription activ...
SMARCA2
288Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0U1RQZ9A0A0U1RQZ9_HUMAN
Probable global transcription activ...
SMARCA2
1,428Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B1ALF6B1ALF6_HUMAN
Probable global transcription activ...
SMARCA2
278Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B4DNT1B4DNT1_HUMAN
Probable global transcription activ...
SMARCA2
276Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F6XE55F6XE55_HUMAN
Probable global transcription activ...
SMARCA2
228Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0U1RQW7A0A0U1RQW7_HUMAN
Probable global transcription activ...
SMARCA2
229Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0U1RQU0A0A0U1RQU0_HUMAN
Probable global transcription activ...
SMARCA2
200Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0U1RR83A0A0U1RR83_HUMAN
Probable global transcription activ...
SMARCA2
244Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti237 – 240Missing in CAA51407 (PubMed:8223438).Curated4
Sequence conflicti394Q → E in BAA05142 (PubMed:8208605).Curated1
Sequence conflicti513G → S in BAA05142 (PubMed:8208605).Curated1
Sequence conflicti711R → W in CAA51407 (PubMed:8223438).Curated1
Sequence conflicti1139D → H in BAA05142 (PubMed:8208605).Curated1
Sequence conflicti1394V → C in CAA51407 (PubMed:8223438).Curated1
Sequence conflicti1400R → S in CAA51407 (PubMed:8223438).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068180752G → A in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875198EnsemblClinVar.1
Natural variantiVAR_068181755K → R in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875203EnsemblClinVar.1
Natural variantiVAR_068182756T → I in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875191EnsemblClinVar.1
Natural variantiVAR_068183851D → H in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875206EnsemblClinVar.1
Natural variantiVAR_068184852E → D in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875193EnsemblClinVar.1
Natural variantiVAR_068185852E → K in NCBRS. 2 PublicationsCorresponds to variant dbSNP:rs281875199EnsemblClinVar.1
Natural variantiVAR_068186854H → N in NCBRS. 1 Publication1
Natural variantiVAR_068187854H → R in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875202EnsemblClinVar.1
Natural variantiVAR_068188855R → G in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875207EnsemblClinVar.1
Natural variantiVAR_076936855R → Q in NCBRS. 1 Publication1
Natural variantiVAR_076937880T → I in NCBRS. 1 Publication1
Natural variantiVAR_068189881G → R in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875194EnsemblClinVar.1
Natural variantiVAR_068190881G → V in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875185EnsemblClinVar.1
Natural variantiVAR_068191883P → L in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875188EnsemblClinVar.1
Natural variantiVAR_068192939H → Y in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875190EnsemblClinVar.1
Natural variantiVAR_068193946L → F in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875205EnsemblClinVar.1
Natural variantiVAR_068194946L → S in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875200EnsemblClinVar.1
Natural variantiVAR_0681951105R → C in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875192EnsemblClinVar.1
Natural variantiVAR_0681961105R → P in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875197EnsemblClinVar.1
Natural variantiVAR_0681971135L → P in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875195EnsemblClinVar.1
Natural variantiVAR_0681981146S → R in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875204EnsemblClinVar.1
Natural variantiVAR_0681991158D → V in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875240EnsemblClinVar.1
Natural variantiVAR_0682001159R → G in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875184EnsemblClinVar.1
Natural variantiVAR_0682011159R → L in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875187EnsemblClinVar.1
Natural variantiVAR_0682021159R → Q in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875187EnsemblClinVar.1
Natural variantiVAR_0682031162R → H in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875186EnsemblClinVar.1
Natural variantiVAR_0682041188A → P in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875196EnsemblClinVar.1
Natural variantiVAR_0682051201A → V in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875189EnsemblClinVar.1
Natural variantiVAR_0682061202G → C in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875239EnsemblClinVar.1
Natural variantiVAR_0682071205D → G in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875201EnsemblClinVar.1
Natural variantiVAR_0682081213R → W in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875238EnsemblClinVar.1
Natural variantiVAR_0788151241Q → E in NCBRS. 1 Publication1
Natural variantiVAR_0495011416G → A. Corresponds to variant dbSNP:rs3793510Ensembl.1
Natural variantiVAR_0495021546D → E Polymorphism; associated with schizophrenia in some populations; results in reduced localization to the nucleus; decreased interaction with chromatin. 1 PublicationCorresponds to variant dbSNP:rs2296212EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0005771400 – 1417Missing in isoform Short. 1 PublicationAdd BLAST18

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
X72889 mRNA Translation: CAA51407.1
D26155 mRNA Translation: BAA05142.1
AL359076 Genomic DNA No translation available.
AL138755 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58811.1
CH471071 Genomic DNA Translation: EAW58813.1
CH471071 Genomic DNA Translation: EAW58814.1
CH471071 Genomic DNA Translation: EAW58815.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34977.1 [P51531-1]
CCDS34978.1 [P51531-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
S39580
S45251

NCBI Reference Sequences

More...
RefSeqi
NP_001276325.1, NM_001289396.1 [P51531-1]
NP_001276326.1, NM_001289397.1
NP_003061.3, NM_003070.4 [P51531-1]
NP_620614.2, NM_139045.3 [P51531-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.298990
Hs.644901

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000349721; ENSP00000265773; ENSG00000080503 [P51531-1]
ENST00000357248; ENSP00000349788; ENSG00000080503 [P51531-2]
ENST00000382194; ENSP00000371629; ENSG00000080503 [P51531-2]
ENST00000382203; ENSP00000371638; ENSG00000080503 [P51531-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
6595

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:6595

UCSC genome browser

More...
UCSCi
uc003zhc.5 human [P51531-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X72889 mRNA Translation: CAA51407.1
D26155 mRNA Translation: BAA05142.1
AL359076 Genomic DNA No translation available.
AL138755 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58811.1
CH471071 Genomic DNA Translation: EAW58813.1
CH471071 Genomic DNA Translation: EAW58814.1
CH471071 Genomic DNA Translation: EAW58815.1
CCDSiCCDS34977.1 [P51531-1]
CCDS34978.1 [P51531-2]
PIRiS39580
S45251
RefSeqiNP_001276325.1, NM_001289396.1 [P51531-1]
NP_001276326.1, NM_001289397.1
NP_003061.3, NM_003070.4 [P51531-1]
NP_620614.2, NM_139045.3 [P51531-2]
UniGeneiHs.298990
Hs.644901

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DATNMR-A1377-1504[»]
4QY4X-ray1.97A/B/C1373-1511[»]
5DKCX-ray1.60A1373-1511[»]
5DKHX-ray1.70A/B/C1373-1511[»]
ProteinModelPortaliP51531
SMRiP51531
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112479, 119 interactors
ComplexPortaliCPX-1164 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA2 variant
CPX-1194 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA2 variant
CPX-1201 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant
CPX-1202 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant
CPX-1203 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant
CPX-1205 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA2 variant
CPX-1207 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA2 variant
CPX-1210 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA2 variant
CPX-1213 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant
CPX-1217 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant
CPX-1220 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant
CPX-1223 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA2 variant
CPX-1225 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA2 variant
CPX-1227 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA2 variant
CORUMiP51531
DIPiDIP-29005N
IntActiP51531, 45 interactors
MINTiP51531
STRINGi9606.ENSP00000265773

Chemistry databases

BindingDBiP51531
ChEMBLiCHEMBL2362979

PTM databases

iPTMnetiP51531
PhosphoSitePlusiP51531

Polymorphism and mutation databases

BioMutaiSMARCA2
DMDMi212276472

Proteomic databases

EPDiP51531
MaxQBiP51531
PaxDbiP51531
PeptideAtlasiP51531
PRIDEiP51531
ProteomicsDBi56325
56326 [P51531-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
6595
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000349721; ENSP00000265773; ENSG00000080503 [P51531-1]
ENST00000357248; ENSP00000349788; ENSG00000080503 [P51531-2]
ENST00000382194; ENSP00000371629; ENSG00000080503 [P51531-2]
ENST00000382203; ENSP00000371638; ENSG00000080503 [P51531-1]
GeneIDi6595
KEGGihsa:6595
UCSCiuc003zhc.5 human [P51531-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
6595
DisGeNETi6595
EuPathDBiHostDB:ENSG00000080503.20

GeneCards: human genes, protein and diseases

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GeneCardsi
SMARCA2
GeneReviewsiSMARCA2
HGNCiHGNC:11098 SMARCA2
HPAiCAB037276
HPA029981
MalaCardsiSMARCA2
MIMi181500 phenotype
600014 gene
601358 phenotype
neXtProtiNX_P51531
OpenTargetsiENSG00000080503
Orphaneti3051 Intellectual disability-sparse hair-brachydactyly syndrome
PharmGKBiPA35948

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0386 Eukaryota
COG0553 LUCA
COG5076 LUCA
GeneTreeiENSGT00940000154821
HOGENOMiHOG000172363
HOVERGENiHBG056636
InParanoidiP51531
KOiK11647
OMAiHHFNIEK
OrthoDBiEOG091G01R9
PhylomeDBiP51531
TreeFamiTF300785

Enzyme and pathway databases

ReactomeiR-HSA-3214858 RMTs methylate histone arginines
R-HSA-8939243 RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
SIGNORiP51531

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
SMARCA2 human
EvolutionaryTraceiP51531

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SMARCA2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
6595
PMAP-CutDBiP51531

Protein Ontology

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PROi
PR:P51531

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000080503 Expressed in 237 organ(s), highest expression level in testis
CleanExiHS_SMARCA2
ExpressionAtlasiP51531 baseline and differential
GenevisibleiP51531 HS

Family and domain databases

CDDicd00079 HELICc, 1 hit
Gene3Di1.20.920.10, 1 hit
2.20.28.130, 1 hit
3.40.50.10810, 1 hit
InterProiView protein in InterPro
IPR006576 BRK_domain
IPR037259 BRK_sf
IPR001487 Bromodomain
IPR036427 Bromodomain-like_sf
IPR018359 Bromodomain_CS
IPR014978 Gln-Leu-Gln_QLQ
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR014012 HSA_dom
IPR027417 P-loop_NTPase
IPR030088 SMARCA2
IPR029295 SnAC
IPR038718 SNF2-like_sf
IPR000330 SNF2_N
PANTHERiPTHR10799:SF541 PTHR10799:SF541, 1 hit
PfamiView protein in Pfam
PF07533 BRK, 1 hit
PF00439 Bromodomain, 1 hit
PF00271 Helicase_C, 1 hit
PF07529 HSA, 1 hit
PF08880 QLQ, 1 hit
PF14619 SnAC, 1 hit
PF00176 SNF2_N, 1 hit
PRINTSiPR00503 BROMODOMAIN
SMARTiView protein in SMART
SM00592 BRK, 1 hit
SM00297 BROMO, 1 hit
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SM00573 HSA, 1 hit
SM00951 QLQ, 1 hit
SM01314 SnAC, 1 hit
SUPFAMiSSF160481 SSF160481, 1 hit
SSF47370 SSF47370, 1 hit
SSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS00633 BROMODOMAIN_1, 1 hit
PS50014 BROMODOMAIN_2, 1 hit
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit
PS51204 HSA, 1 hit
PS51666 QLQ, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSMCA2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P51531
Secondary accession number(s): B1ALG3
, B1ALG4, D3DRH4, D3DRH5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: November 4, 2008
Last modified: December 5, 2018
This is version 201 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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