SMARCA2

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 key	Position(s)	DescriptionActions	Graphical view	Length
Nucleotide bindingⁱ	749 – 756	ATPPROSITE-ProRule annotation		8

GO - Molecular functionⁱ

Complete GO annotation on QuickGO ...

GO - Biological processⁱ

Complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Activator, DNA-binding, Helicase, Hydrolase
Biological process	Neurogenesis, Transcription, Transcription regulation
Ligand	ATP-binding, Nucleotide-binding

Enzyme and pathway databases

PathwayCommonsⁱ	P51531
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
SIGNORⁱ	P51531

Names & Taxonomyⁱ

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
Gene namesⁱ	Name:SMARCA2Imported Synonyms:BAF190B, BRM, SNF2A, SNF2L2
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 9

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:11098, SMARCA2
MIMⁱ	600014, gene
neXtProtⁱ	NX_P51531
VEuPathDBⁱ	HostDB:ENSG00000080503.20

Keywords - Cellular componentⁱ

Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Nicolaides-Baraitser syndrome (NCBRS)4 Publications

The disease is caused by variants 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.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_068180	752	G → A in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875198EnsemblClinVar.	1
Natural variantⁱVAR_068181	755	K → R in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875203EnsemblClinVar.	1
Natural variantⁱVAR_068182	756	T → I in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875191EnsemblClinVar.	1
Natural variantⁱVAR_068183	851	D → H in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875206EnsemblClinVar.	1
Natural variantⁱVAR_068184	852	E → D in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875193EnsemblClinVar.	1
Natural variantⁱVAR_068185	852	E → K in NCBRS. 2 PublicationsCorresponds to variant dbSNP:rs281875199EnsemblClinVar.	1
Natural variantⁱVAR_068186	854	H → N in NCBRS. 1 Publication	1
Natural variantⁱVAR_068187	854	H → R in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875202EnsemblClinVar.	1
Natural variantⁱVAR_068188	855	R → G in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875207EnsemblClinVar.	1
Natural variantⁱVAR_076936	855	R → Q in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs1471482709Ensembl.	1
Natural variantⁱVAR_076937	880	T → I in NCBRS. 1 Publication	1
Natural variantⁱVAR_068189	881	G → R in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875194EnsemblClinVar.	1
Natural variantⁱVAR_068190	881	G → V in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875185EnsemblClinVar.	1
Natural variantⁱVAR_068191	883	P → L in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875188EnsemblClinVar.	1
Natural variantⁱVAR_068192	939	H → Y in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875190EnsemblClinVar.	1
Natural variantⁱVAR_068193	946	L → F in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875205EnsemblClinVar.	1
Natural variantⁱVAR_068194	946	L → S in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875200EnsemblClinVar.	1
Natural variantⁱVAR_068195	1105	R → C in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875192EnsemblClinVar.	1
Natural variantⁱVAR_068196	1105	R → P in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875197EnsemblClinVar.	1
Natural variantⁱVAR_068197	1135	L → P in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875195EnsemblClinVar.	1
Natural variantⁱVAR_068198	1146	S → R in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875204EnsemblClinVar.	1
Natural variantⁱVAR_068199	1158	D → V in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875240EnsemblClinVar.	1
Natural variantⁱVAR_068200	1159	R → G in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875184EnsemblClinVar.	1
Natural variantⁱVAR_068201	1159	R → L in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875187EnsemblClinVar.	1
Natural variantⁱVAR_068202	1159	R → Q in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875187EnsemblClinVar.	1
Natural variantⁱVAR_068203	1162	R → H in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875186EnsemblClinVar.	1
Natural variantⁱVAR_068204	1188	A → P in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875196EnsemblClinVar.	1
Natural variantⁱVAR_068205	1201	A → V in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875189EnsemblClinVar.	1
Natural variantⁱVAR_068206	1202	G → C in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875239EnsemblClinVar.	1
Natural variantⁱVAR_068207	1205	D → G in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875201EnsemblClinVar.	1
Natural variantⁱVAR_068208	1213	R → W in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875238EnsemblClinVar.	1
Natural variantⁱVAR_078815	1241	Q → E in NCBRS. 1 Publication	1

Schizophrenia (SCZD)1 Publication

Disease susceptibility may be associated with variants 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.

Related information in OMIM

Keywords - Diseaseⁱ

Disease variant, Hypotrichosis, Mental retardation, Schizophrenia

Organism-specific databases

DisGeNET More...DisGeNETⁱ	6595
GeneReviewsⁱ	SMARCA2
MalaCards human disease database More...MalaCardsⁱ	SMARCA2
MIMⁱ	181500, phenotype 601358, phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000080503
Orphanetⁱ	3051, Intellectual disability-sparse hair-brachydactyly syndrome
PharmGKBⁱ	PA35948

Miscellaneous databases

Pharosⁱ	P51531, Tchem

Pharosⁱ

P51531, Tchem

Chemistry databases

ChEMBLⁱ	CHEMBL2362979

ChEMBLⁱ

CHEMBL2362979

Genetic variation databases

BioMutaⁱ	SMARCA2
DMDMⁱ	212276472

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000074352	1 – 1590	Probable global transcription activator SNF2L2Add BLAST		1590

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	172	PhosphoserineCombined sources	1
Modified residueⁱ	175	PhosphoserineCombined sources	1
Modified residueⁱ	190	N6-acetyllysineBy similarity	1
Modified residueⁱ	316	PhosphoserineBy similarity	1
Modified residueⁱ	329	PhosphoserineCombined sources	1
Modified residueⁱ	588	PhosphoserineBy similarity	1
Modified residueⁱ	591	PhosphoserineCombined sources	1
Modified residueⁱ	604	N6-acetyllysineBy similarity	1
Modified residueⁱ	666	PhosphoserineCombined sources	1
Modified residueⁱ	670	PhosphoserineBy similarity	1
Modified residueⁱ	997	N6-acetyllysineCombined sources	1
Modified residueⁱ	999	N6-acetyllysineCombined sources	1
Cross-linkⁱ	1302	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity
Modified residueⁱ	1377	PhosphoserineCombined sources	1
Modified residueⁱ	1512	PhosphoserineCombined sources	1
Modified residueⁱ	1516	PhosphoserineCombined sources	1
Modified residueⁱ	1528	PhosphoserineCombined sources	1
Modified residueⁱ	1568	PhosphoserineCombined sources	1
Modified residueⁱ	1572	PhosphoserineCombined sources	1

Keywords - PTMⁱ

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDⁱ	P51531
jPOSTⁱ	P51531
MassIVEⁱ	P51531
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P51531
PaxDbⁱ	P51531
PeptideAtlas More...PeptideAtlasⁱ	P51531
PRIDEⁱ	P51531
ProteomicsDBⁱ	56325 [P51531-1] 56326 [P51531-2]

PTM databases

GlyGenⁱ	P51531, 1 site
iPTMnetⁱ	P51531
MetOSiteⁱ	P51531
PhosphoSitePlusⁱ	P51531

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000080503, Expressed in testis and 247 other tissues
ExpressionAtlasⁱ	P51531, baseline and differential
Genevisibleⁱ	P51531, HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	ENSG00000080503, Low tissue specificity

HPAⁱ

ENSG00000080503, Low tissue specificity

Interactionⁱ

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).

Interacts with ERCC6 (PubMed:26030138).

2 PublicationsBy similarity6 Publications

Binary interactionsⁱ

Hide details

P51531

With	#Exp.	IntAct
ARID1A [O14497]	3	EBI-679562,EBI-637887
ARID1B [Q8NFD5]	3	EBI-679562,EBI-679921
KHDRBS1 [Q07666]	2	EBI-679562,EBI-1364
MECP2 [P51608]	4	EBI-679562,EBI-1189067
PICK1 [Q9NRD5]	2	EBI-679562,EBI-79165
SDCBP [O00560]	2	EBI-679562,EBI-727004
SMARCC2 [Q8TAQ2]	2	EBI-679562,EBI-357418
tat [P04326] from Human immunodeficiency virus type 1 group M subtype B (isolate PCV12).	8	EBI-679562,EBI-7333987

Isoform Short [P51531-2]

With	#Exp.	IntAct
BEND7 - isoform 2 [Q8N7W2-2]	3	EBI-10212306,EBI-10181188
SDCBP [O00560]	3	EBI-10212306,EBI-727004

GO - Molecular functionⁱ

histone binding Source: InterPro

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGRIDⁱ	112479, 205 interactors
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 CPX-4084, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRA-SMARCA2 variant CPX-4203, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRAL-SMARCA2 variant CPX-4223, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRA-SMARCA2 variant CPX-4224, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRAL-SMARCA2 variant
CORUMⁱ	P51531
Database of interacting proteins More...DIPⁱ	DIP-29005N
IntActⁱ	P51531, 90 interactors
Molecular INTeraction database More...MINTⁱ	P51531
STRINGⁱ	9606.ENSP00000265773

Chemistry databases

BindingDBⁱ

P51531

Miscellaneous databases

RNActⁱ	P51531, protein

RNActⁱ

P51531, protein

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	726 – 740	Combined sources	15
Beta strandⁱ	745 – 747	Combined sources	3
Beta strandⁱ	751 – 753	Combined sources	3
Helixⁱ	755 – 768	Combined sources	14
Beta strandⁱ	776 – 779	Combined sources	4
Helixⁱ	782 – 795	Combined sources	14
Beta strandⁱ	797 – 799	Combined sources	3
Beta strandⁱ	801 – 804	Combined sources	4
Helixⁱ	808 – 812	Combined sources	5
Helixⁱ	815 – 820	Combined sources	6
Beta strandⁱ	824 – 828	Combined sources	5
Helixⁱ	830 – 835	Combined sources	6
Helixⁱ	837 – 840	Combined sources	4
Beta strandⁱ	846 – 855	Combined sources	10
Helixⁱ	859 – 870	Combined sources	12
Beta strandⁱ	874 – 882	Combined sources	9
Helixⁱ	888 – 898	Combined sources	11
Turnⁱ	900 – 903	Combined sources	4
Helixⁱ	909 – 914	Combined sources	6
Helixⁱ	915 – 917	Combined sources	3
Helixⁱ	928 – 942	Combined sources	15
Helixⁱ	943 – 945	Combined sources	3
Helixⁱ	951 – 953	Combined sources	3
Helixⁱ	1381 – 1396	Combined sources	16
Beta strandⁱ	1418 – 1420	Combined sources	3
Helixⁱ	1425 – 1427	Combined sources	3
Turnⁱ	1433 – 1435	Combined sources	3
Helixⁱ	1437 – 1442	Combined sources	6
Helixⁱ	1449 – 1457	Combined sources	9
Helixⁱ	1464 – 1481	Combined sources	18
Helixⁱ	1487 – 1507	Combined sources	21

Show more details

3D structure databases

SMRⁱ	P51531
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	P51531

EvolutionaryTraceⁱ

P51531

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Length
Domainⁱ	173 – 208	QLQPROSITE-ProRule annotationAdd BLAST	36
Domainⁱ	436 – 508	HSAPROSITE-ProRule annotationAdd BLAST	73
Domainⁱ	736 – 901	Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST	166
Domainⁱ	1054 – 1216	Helicase C-terminalPROSITE-ProRule annotationAdd BLAST	163
Domainⁱ	1419 – 1489	BromoPROSITE-ProRule annotationAdd BLAST	71

Region

Feature key	Position(s)	DescriptionActions	Length
Regionⁱ	1 – 71	DisorderedSequence analysisAdd BLAST	71
Regionⁱ	95 – 176	DisorderedSequence analysisAdd BLAST	82
Regionⁱ	212 – 334	DisorderedSequence analysisAdd BLAST	123
Regionⁱ	551 – 592	DisorderedSequence analysisAdd BLAST	42
Regionⁱ	627 – 672	DisorderedSequence analysisAdd BLAST	46
Regionⁱ	1344 – 1383	DisorderedSequence analysisAdd BLAST	40
Regionⁱ	1506 – 1590	DisorderedSequence analysisAdd BLAST	85

Motif

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Motifⁱ	851 – 854	DEGH box		4

Compositional bias

Feature key	Position(s)	DescriptionActions	Length
Compositional biasⁱ	8 – 36	Pro residuesSequence analysisAdd BLAST	29
Compositional biasⁱ	142 – 156	Pro residuesSequence analysisAdd BLAST	15
Compositional biasⁱ	212 – 259	Polar residuesSequence analysisAdd BLAST	48
Compositional biasⁱ	268 – 315	Pro residuesSequence analysisAdd BLAST	48
Compositional biasⁱ	316 – 332	Polar residuesSequence analysisAdd BLAST	17
Compositional biasⁱ	637 – 653	Acidic residuesSequence analysisAdd BLAST	17
Compositional biasⁱ	654 – 672	Basic and acidic residuesSequence analysisAdd BLAST	19
Compositional biasⁱ	1344 – 1373	Basic and acidic residuesSequence analysisAdd BLAST	30
Compositional biasⁱ	1512 – 1529	Acidic residuesSequence analysisAdd BLAST	18
Compositional biasⁱ	1530 – 1552	Basic and acidic residuesSequence analysisAdd BLAST	23
Compositional biasⁱ	1571 – 1590	Acidic residuesSequence analysisAdd BLAST	20

Sequence similaritiesⁱ

Belongs to the SNF2/RAD54 helicase family.Curated

Keywords - Domainⁱ

Bromodomain

Phylogenomic databases

eggNOGⁱ	KOG0386, Eukaryota
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00940000154821
HOGENOMⁱ	CLU_000315_15_0_1
InParanoidⁱ	P51531
OMAⁱ	SHHFNIE
PhylomeDBⁱ	P51531
TreeFamⁱ	TF300785

Family and domain databases

Gene3Dⁱ	1.20.920.10, 1 hit 2.20.28.130, 1 hit 3.40.50.10810, 1 hit
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
PANTHERⁱ	PTHR10799:SF541, PTHR10799:SF541, 1 hit
Pfam protein domain database More...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
PRINTSⁱ	PR00503, BROMODOMAIN
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
SUPFAMⁱ	SSF160481, SSF160481, 1 hit SSF47370, SSF47370, 1 hit SSF52540, SSF52540, 2 hits
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

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket

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

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

This isoform has been chosen as the canonicalⁱ 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

Checksum:ⁱCE69BBB287D35AB5

GO

Isoform Short (identifier: P51531-2) [UniParc]FASTA Add to basket

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

« 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 IDTVINYKDS 
      1410       1420       1430       1440       1450
SGRQLSEVFI QLPSRKELPE YYELIRKPVD FKKIKERIRN HKYRSLGDLE 
      1460       1470       1480       1490       1500
KDVMLLCHNA QTFNLEGSQI YEDSIVLQSV FKSARQKIAK EEESEDESNE 
      1510       1520       1530       1540       1550
EEEEEDEEES ESEAKSVKVK IKLNKKDDKG RDKGKGKKRP NRGKAKPVVS 
      1560       1570 
DFDSDEEQDE REQSEGSGTD DE

Show »

Length:1,572

Mass (Da):179,281

Checksum:ⁱBBD4488C2861C270

GO

Computationally mapped potential isoform sequencesⁱ

There are 34 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

	Entry	Entry name	Protein names	Gene names	Length	Annotation

	F6VDE0	F6VDE0_HUMAN	Probable global transcription activ... Probable global transcription activator SNF2L2	SMARCA2	1,514	Annotation score:
	A0A1B0GU54	A0A1B0GU54_HUMAN	Probable global transcription activ... Probable global transcription activator SNF2L2	SMARCA2	288	Annotation score:
	A0A1B0GWA8	A0A1B0GWA8_HUMAN	Probable global transcription activ... Probable global transcription activator SNF2L2	SMARCA2	279	Annotation score:
	A0A0U1RQZ9	A0A0U1RQZ9_HUMAN	Probable global transcription activ... Probable global transcription activator SNF2L2	SMARCA2	1,428	Annotation score:
	B1ALF6	B1ALF6_HUMAN	Probable global transcription activ... Probable global transcription activator SNF2L2	SMARCA2	278	Annotation score:
	A0A0A0MT03	A0A0A0MT03_HUMAN	Probable global transcription activ... Probable global transcription activator SNF2L2	SMARCA2	215	Annotation score:
	F6RS74	F6RS74_HUMAN	Probable global transcription activ... Probable global transcription activator SNF2L2	SMARCA2	193	Annotation score:
	B4DNT1	B4DNT1_HUMAN	Probable global transcription activ... Probable global transcription activator SNF2L2 (cDNA FLJ61143, highly similar to Probable global transcription activator SNF2L2)	SMARCA2	276	Annotation score:
	F6XE55	F6XE55_HUMAN	Probable global transcription activ... Probable global transcription activator SNF2L2	SMARCA2	228	Annotation score:
	A0A0U1RQU0	A0A0U1RQU0_HUMAN	Probable global transcription activ... Probable global transcription activator SNF2L2	SMARCA2	200	Annotation score:
There are more potential isoformsShow all

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	237 – 240	Missing in CAA51407 (PubMed:8223438).Curated	4
Sequence conflictⁱ	394	Q → E in BAA05142 (PubMed:8208605).Curated	1
Sequence conflictⁱ	513	G → S in BAA05142 (PubMed:8208605).Curated	1
Sequence conflictⁱ	711	R → W in CAA51407 (PubMed:8223438).Curated	1
Sequence conflictⁱ	1139	D → H in BAA05142 (PubMed:8208605).Curated	1
Sequence conflictⁱ	1394	V → C in CAA51407 (PubMed:8223438).Curated	1
Sequence conflictⁱ	1400	R → S in CAA51407 (PubMed:8223438).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_068180	752	G → A in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875198EnsemblClinVar.	1
Natural variantⁱVAR_068181	755	K → R in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875203EnsemblClinVar.	1
Natural variantⁱVAR_068182	756	T → I in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875191EnsemblClinVar.	1
Natural variantⁱVAR_068183	851	D → H in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875206EnsemblClinVar.	1
Natural variantⁱVAR_068184	852	E → D in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875193EnsemblClinVar.	1
Natural variantⁱVAR_068185	852	E → K in NCBRS. 2 PublicationsCorresponds to variant dbSNP:rs281875199EnsemblClinVar.	1
Natural variantⁱVAR_068186	854	H → N in NCBRS. 1 Publication	1
Natural variantⁱVAR_068187	854	H → R in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875202EnsemblClinVar.	1
Natural variantⁱVAR_068188	855	R → G in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875207EnsemblClinVar.	1
Natural variantⁱVAR_076936	855	R → Q in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs1471482709Ensembl.	1
Natural variantⁱVAR_076937	880	T → I in NCBRS. 1 Publication	1
Natural variantⁱVAR_068189	881	G → R in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875194EnsemblClinVar.	1
Natural variantⁱVAR_068190	881	G → V in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875185EnsemblClinVar.	1
Natural variantⁱVAR_068191	883	P → L in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875188EnsemblClinVar.	1
Natural variantⁱVAR_068192	939	H → Y in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875190EnsemblClinVar.	1
Natural variantⁱVAR_068193	946	L → F in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875205EnsemblClinVar.	1
Natural variantⁱVAR_068194	946	L → S in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875200EnsemblClinVar.	1
Natural variantⁱVAR_068195	1105	R → C in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875192EnsemblClinVar.	1
Natural variantⁱVAR_068196	1105	R → P in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875197EnsemblClinVar.	1
Natural variantⁱVAR_068197	1135	L → P in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875195EnsemblClinVar.	1
Natural variantⁱVAR_068198	1146	S → R in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875204EnsemblClinVar.	1
Natural variantⁱVAR_068199	1158	D → V in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875240EnsemblClinVar.	1
Natural variantⁱVAR_068200	1159	R → G in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875184EnsemblClinVar.	1
Natural variantⁱVAR_068201	1159	R → L in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875187EnsemblClinVar.	1
Natural variantⁱVAR_068202	1159	R → Q in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875187EnsemblClinVar.	1
Natural variantⁱVAR_068203	1162	R → H in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875186EnsemblClinVar.	1
Natural variantⁱVAR_068204	1188	A → P in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875196EnsemblClinVar.	1
Natural variantⁱVAR_068205	1201	A → V in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875189EnsemblClinVar.	1
Natural variantⁱVAR_068206	1202	G → C in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875239EnsemblClinVar.	1
Natural variantⁱVAR_068207	1205	D → G in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875201EnsemblClinVar.	1
Natural variantⁱVAR_068208	1213	R → W in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875238EnsemblClinVar.	1
Natural variantⁱVAR_078815	1241	Q → E in NCBRS. 1 Publication	1
Natural variantⁱVAR_049501	1416	G → A. Corresponds to variant dbSNP:rs3793510Ensembl.	1
Natural variantⁱVAR_049502	1546	D → E 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 key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_000577	1400 – 1417	Missing in isoform Short. 1 PublicationAdd BLAST		18

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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS34977.1 [P51531-1] CCDS34978.1 [P51531-2]
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]

Genome annotation databases

Ensemblⁱ	ENST00000349721; ENSP00000265773; ENSG00000080503 [P51531-1] ENST00000357248; ENSP00000349788; ENSG00000080503 [P51531-2] ENST00000382194; ENSP00000371629; ENSG00000080503 [P51531-2] ENST00000382203; ENSP00000371638; ENSG00000080503 [P51531-1]
GeneIDⁱ	6595
KEGGⁱ	hsa:6595
UCSC genome browser More...UCSCⁱ	uc003zhc.5, human [P51531-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
P51531	Probable global transcription activator SNF2L2 (Fragment)		HUMAN		215	UniRef100_P51531
SMARCA2 isoform 59 (Fragment)		PANTR		193
Probable global transcription activator SNF2L2 (Fragment)		HUMAN		57
SMARCA2 protein (Fragment)		HUMAN		298
Probable global transcription activator SNF2L2		HUMAN		254
+3
P51531-2	Probable global transcription activator SNF2L2		HUMAN		236	UniRef100_P51531-2
Probable global transcription activator SNF2L2 (Fragment)		HUMAN		192
Probable global transcription activator SNF2L2 (Fragment)		HUMAN		202

Protein	Similar proteins		Species	Score	Length	Source
P51531	Probable global transcription activator SNF2L2		MOUSE		1577	UniRef90_P51531
Probable global transcription activator SNF2L2 (Fragment)		HUMAN		215
SMARCA2 isoform 59 (Fragment)		PANTR		193
probable global transcription activator SNF2L2 isoform X1		BALAS		1631
SMCA2 protein (Fragment)		Mesembrinibis cayennensis		93
+647

Protein	Similar proteins		Species	Score	Length	Source
P51531	Transcription activator BRG1	)	HUMAN		1647	UniRef50_P51532
Transcription activator BRG1		BOVIN		1606
Probable global transcription activator SNF2L2		MOUSE		1577
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4		PANTR		1647
Transcription activator BRG1		MYODS		1923
+2112

Cross-referencesⁱ

Web resourcesⁱ

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
CCDSⁱ	CCDS34977.1 [P51531-1] CCDS34978.1 [P51531-2]
PIRⁱ	S39580 S45251
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]

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 entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	2DAT	NMR	-	A	1377-1504	[»]
	4QY4	X-ray	1.97	A/B/C	1373-1511	[»]
	5DKC	X-ray	1.60	A	1373-1511	[»]
	5DKH	X-ray	1.70	A/B/C	1373-1511	[»]
	6EG2	X-ray	2.98	A	705-955	[»]
	6EG3	X-ray	2.84	A	705-955	[»]
	6HAX	X-ray	2.35	A/E	1373-1511	[»]
	6HAY	X-ray	2.24	A/E	1373-1511	[»]
	6HAZ	X-ray	1.31	A/B	1373-1511	[»]
SMRⁱ	P51531
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Protein-protein interaction databases

BioGRIDⁱ	112479, 205 interactors
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 CPX-4084, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRA-SMARCA2 variant CPX-4203, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRAL-SMARCA2 variant CPX-4223, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRA-SMARCA2 variant CPX-4224, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRAL-SMARCA2 variant
CORUMⁱ	P51531
DIPⁱ	DIP-29005N
IntActⁱ	P51531, 90 interactors
MINTⁱ	P51531
STRINGⁱ	9606.ENSP00000265773

Chemistry databases

BindingDBⁱ	P51531
ChEMBLⁱ	CHEMBL2362979

PTM databases

GlyGenⁱ	P51531, 1 site
iPTMnetⁱ	P51531
MetOSiteⁱ	P51531
PhosphoSitePlusⁱ	P51531

Genetic variation databases

BioMutaⁱ	SMARCA2
DMDMⁱ	212276472

Proteomic databases

EPDⁱ	P51531
jPOSTⁱ	P51531
MassIVEⁱ	P51531
MaxQBⁱ	P51531
PaxDbⁱ	P51531
PeptideAtlasⁱ	P51531
PRIDEⁱ	P51531
ProteomicsDBⁱ	56325 [P51531-1] 56326 [P51531-2]

Protocols and materials databases

ABCDⁱ	P51531, 1 sequenced antibody
Antibodypediaⁱ	9105, 213 antibodies
The DNASU plasmid repository More...DNASUⁱ	6595

Genome annotation databases

Ensemblⁱ	ENST00000349721; ENSP00000265773; ENSG00000080503 [P51531-1] ENST00000357248; ENSP00000349788; ENSG00000080503 [P51531-2] ENST00000382194; ENSP00000371629; ENSG00000080503 [P51531-2] ENST00000382203; ENSP00000371638; ENSG00000080503 [P51531-1]
GeneIDⁱ	6595
KEGGⁱ	hsa:6595
UCSCⁱ	uc003zhc.5, human [P51531-1]

Organism-specific databases

CTDⁱ	6595
DisGeNETⁱ	6595
GeneCardsⁱ	SMARCA2
GeneReviewsⁱ	SMARCA2
HGNCⁱ	HGNC:11098, SMARCA2
HPAⁱ	ENSG00000080503, Low tissue specificity
MalaCardsⁱ	SMARCA2
MIMⁱ	181500, phenotype 600014, gene 601358, phenotype
neXtProtⁱ	NX_P51531
OpenTargetsⁱ	ENSG00000080503
Orphanetⁱ	3051, Intellectual disability-sparse hair-brachydactyly syndrome
PharmGKBⁱ	PA35948
VEuPathDBⁱ	HostDB:ENSG00000080503.20
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG0386, Eukaryota
GeneTreeⁱ	ENSGT00940000154821
HOGENOMⁱ	CLU_000315_15_0_1
InParanoidⁱ	P51531
OMAⁱ	SHHFNIE
PhylomeDBⁱ	P51531
TreeFamⁱ	TF300785

Enzyme and pathway databases

PathwayCommonsⁱ	P51531
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
SIGNORⁱ	P51531

Miscellaneous databases

BioGRID-ORCSⁱ	6595, 34 hits in 995 CRISPR screens
ChiTaRSⁱ	SMARCA2, human
EvolutionaryTraceⁱ	P51531
GeneWikiⁱ	SMARCA2
GenomeRNAiⁱ	6595
Pharosⁱ	P51531, Tchem
Protein Ontology More...PROⁱ	PR:P51531
RNActⁱ	P51531, protein
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000080503, Expressed in testis and 247 other tissues
ExpressionAtlasⁱ	P51531, baseline and differential
Genevisibleⁱ	P51531, HS

Family and domain databases

Gene3Dⁱ	1.20.920.10, 1 hit 2.20.28.130, 1 hit 3.40.50.10810, 1 hit
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
PANTHERⁱ	PTHR10799:SF541, PTHR10799:SF541, 1 hit
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
PRINTSⁱ	PR00503, BROMODOMAIN
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
SUPFAMⁱ	SSF160481, SSF160481, 1 hit SSF47370, SSF47370, 1 hit SSF52540, SSF52540, 2 hits
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
MobiDBⁱ	Search...

Entry informationⁱ

Entry nameⁱ	SMCA2_HUMAN
Accessionⁱ	P51531Primary (citable) accession number: P51531 Secondary accession number(s): B1ALG3 , B1ALG4, D3DRH4, D3DRH5
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
	Last sequence update:	November 4, 2008
	Last modified:	June 2, 2021
	This is version 219 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Reference proteome

Documents

Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM
Human entries with genetic variants
List of human entries with genetic variants
Human variants curated from literature reports
Index of human variants curated from literature reports
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
SIMILARITY comments
Index of protein domains and families

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UniProtKB - P51531 (SMCA2_HUMAN)

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Probable global transcription activator SNF2L2

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<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

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GO - Biological processi

Enzyme and pathway databases

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P51531

Isoform Short [P51531-2]

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Keywords - Coding sequence diversityi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ