{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"P51531","secondaryAccessions":["B1ALG3","B1ALG4","D3DRH4","D3DRH5"],"uniProtkbId":"SMCA2_HUMAN","entryAudit":{"firstPublicDate":"1996-10-01","lastAnnotationUpdateDate":"2026-06-10","lastSequenceUpdateDate":"2008-11-04","entryVersion":241,"sequenceVersion":2},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:11098"}],"value":"SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2"},"shortNames":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"22366787"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"27665729"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"32694869"},{"evidenceCode":"ECO:0000303","source":"Reference","id":"Ref.26"}],"value":"SAMRCA2"}],"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30339381"}],"value":"3.6.4.-"}]},"alternativeNames":[{"fullName":{"value":"BRG1-associated factor 190B"},"shortNames":[{"value":"BAF190B"}]},{"fullName":{"value":"Probable global transcription activator SNF2L2"}},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8208605"}],"value":"Protein brahma homolog"},"shortNames":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15075294"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8223438"}],"value":"hBRM"}]},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8208605"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8223438"}],"value":"SNF2-alpha"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:11098"}],"value":"SMARCA2"},"synonyms":[{"value":"BAF190B"},{"value":"BRM"},{"value":"SNF2A"},{"value":"SNF2L2"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q6DIC0"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15075294"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"22952240"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"26601204"}],"value":"ATPase 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:15075294, 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)"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"ATP + H2O = ADP + phosphate + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:13065"},{"database":"ChEBI","id":"CHEBI:15377"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:30616"},{"database":"ChEBI","id":"CHEBI:43474"},{"database":"ChEBI","id":"CHEBI:456216"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30339381"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:13066"},"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"30339381"}]}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q6DIC0"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15075294"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15107404"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18765789"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20111005"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20460684"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26030138"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"22952240"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"26601204"}],"value":"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, mutually exclusive) 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)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"P51531","intActId":"EBI-679562"},"interactantTwo":{"uniProtKBAccession":"O14497","geneName":"ARID1A","intActId":"EBI-637887"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P51531","intActId":"EBI-679562"},"interactantTwo":{"uniProtKBAccession":"Q8NFD5","geneName":"ARID1B","intActId":"EBI-679921"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P51531","intActId":"EBI-679562"},"interactantTwo":{"uniProtKBAccession":"Q07666","geneName":"KHDRBS1","intActId":"EBI-1364"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P51531","intActId":"EBI-679562"},"interactantTwo":{"uniProtKBAccession":"P51608","geneName":"MECP2","intActId":"EBI-1189067"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P51531","intActId":"EBI-679562"},"interactantTwo":{"uniProtKBAccession":"Q9NRD5","geneName":"PICK1","intActId":"EBI-79165"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P51531","intActId":"EBI-679562"},"interactantTwo":{"uniProtKBAccession":"O00560","geneName":"SDCBP","intActId":"EBI-727004"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P51531","intActId":"EBI-679562"},"interactantTwo":{"uniProtKBAccession":"Q8TAQ2","geneName":"SMARCC2","intActId":"EBI-357418"},"numberOfExperiments":5,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P51531","intActId":"EBI-679562"},"interactantTwo":{"uniProtKBAccession":"P04326","geneName":"tat","intActId":"EBI-7333987"},"numberOfExperiments":8,"organismDiffer":true},{"interactantOne":{"uniProtKBAccession":"P51531-2","intActId":"EBI-10212306"},"interactantTwo":{"uniProtKBAccession":"Q8N7W2-2","geneName":"BEND7","intActId":"EBI-10181188"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P51531-2","intActId":"EBI-10212306"},"interactantTwo":{"uniProtKBAccession":"O00560","geneName":"SDCBP","intActId":"EBI-727004"},"numberOfExperiments":3,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25593309"}],"value":"Localizes to sites of DNA damage"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11259672"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25593309"}],"value":"Nucleus","id":"SL-0191"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"Long"},"isoformIds":["P51531-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"Short"},"isoformIds":["P51531-2"],"sequenceIds":["VSP_000577"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11259672"}],"value":"During apoptosis, cleaved by cathepsin CTSG to produce a 160 kDa cleavage product which localizes to the cytosol"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11259672"}],"value":"Ubiquitinated"}],"commentType":"PTM"},{"commentType":"DISEASE","disease":{"diseaseId":"Nicolaides-Baraitser syndrome","diseaseAccession":"DI-03463","acronym":"NCBRS","description":"A rare disorder characterized by severe intellectual disability 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.","diseaseCrossReference":{"database":"MIM","id":"601358"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22366787"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22426308"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23906836"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27665729"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Blepharophimosis-impaired intellectual development syndrome","diseaseAccession":"DI-06094","acronym":"BIS","description":"An autosomal dominant congenital syndrome characterized by blepharophimosis, facial dysmorphism, global development delay, delayed motor skills, impaired intellectual development with poor or absent speech, and behavioral abnormalities in some patients. Additional variable features include distal skeletal anomalies, feeding difficulties with poor growth, respiratory infections, and hypotonia with peripheral spasticity.","diseaseCrossReference":{"database":"MIM","id":"619293"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32694869"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Schizophrenia","diseaseAccession":"DI-03626","acronym":"SCZD","description":"A 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.","diseaseCrossReference":{"database":"MIM","id":"181500"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19363039"}]},"note":{"texts":[{"value":"Disease susceptibility may be associated with variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the SNF2/RAD54 helicase family"}],"commentType":"SIMILARITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"22952240"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"26601204"}],"value":"Like other proteins within the SNF2 family, they do not possess helicase activity but instead remodel chromatin via an ATP-dependent translocation mechanism"}],"commentType":"CAUTION"},{"commentType":"WEB RESOURCE","resourceName":"SWI/SNF related, matrix associated, actin dependent 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