SMARCA2
entrez
6595
canonical
uniprot
P51531
canonical
ensembl
ENSG00000080503
resolver
ensp
ENSP00000265773
resolver
ensp
ENSP00000305411
resolver
ensp
ENSP00000324770
resolver
ensp
ENSP00000349788
resolver
ensp
ENSP00000371620
resolver
ensp
ENSP00000371638
resolver
ensp
ENSP00000387486
resolver
ensp
ENSP00000392081
resolver
enst
ENST00000302401
resolver
enst
ENST00000324954
resolver
enst
ENST00000382185
resolver
enst
ENST00000417599
resolver
enst
ENST00000450198
resolver
genesymbol
SMARCA2
resolver
genesymbol_syn
BAF190B
resolver
genesymbol_syn
BRM
resolver
genesymbol_syn
SNF2A
resolver
genesymbol_syn
SNF2L2
resolver
hgnc
HGNC:11098
resolver
uniprot
B1ALF6
resolver
uniprot
B1ALG3
resolver
uniprot
B1ALG4
resolver
uniprot
B4DNT1
resolver
uniprot
B4DSC8
resolver
uniprot
D3DRH4
resolver
uniprot
D3DRH5
resolver
uniprot
F6T8Q0
resolver
uniprot
F6VDE0
resolver
uniprot
F6XG14
resolver
uniprot
Q56A76
resolver
uniprot
Q8N9Q1
resolver
uniprot_entry
B1ALF6_HUMAN
resolver
uniprot_entry
B4DNT1_HUMAN
resolver
uniprot_entry
B4DSC8_HUMAN
resolver
uniprot_entry
F6T8Q0_HUMAN
resolver
uniprot_entry
F6VDE0_HUMAN
resolver
uniprot_entry
Q56A76_HUMAN
resolver
uniprot_entry
Q8N9Q1_HUMAN
resolver
uniprot_entry
SMCA2_HUMAN
resolver
uniprot_sec
B1ALG3
resolver
uniprot_sec
B1ALG4
resolver
uniprot_sec
D3DRH4
resolver
uniprot_sec
D3DRH5
resolver
uniprot_sec
F6XG14
resolver
amino_acid_sequence
MSTPTDPGAMPHPGPSPGPGPSPGPILGPSPGPGPSPGSVHSMMGPSPGPPSVSHPMPTMGSTDFPQEGMHQMHKPIDGIHDKGIVEDIHCGSMKGTGMRPPHPGMGPPQSPMDQHSQGYMSPHPSPLGAPEHVSSPMSGGGPTPPQMPPSQPGALIPGDPQAMSQPNRGPSPFSPVQLHQLRAQILAYKMLARGQPLPETLQLAVQGKRTLPGLQQQQQQQQQQQQQQQQQQQQQQQPQQQPPQPQTQQQQQPALVNYNRPSGPGPELSGPSTPQKLPVPAPGGRPSPAPPAAAQPPAAAVPGPSVPQPAPGQPSPVLQLQQKQSRISPIQKPQGLDPVEILQEREYRLQARIAHRIQELENLPGSLPPDLRTKATVELKALRLLNFQRQLRQEVVACMRRDTTLETALNSKAYKRSKRQTLREARMTEKLEKQQKIEQERKRRQKHQEYLNSILQHAKDFKEYHRSVAGKIQKLSKAVATWHANTEREQKKETERIEKERMRRLMAEDEEGYRKLIDQKKDRRLAYLLQQTDEYVANLTNLVWEHKQAQAAKEKKKRRRRKKKAEENAEGGESALGPDGEPIDESSQMSDLPVKVTHTETGKVLFGPEAPKASQLDAWLEMNPGYEVAPRSDSEESDSDYEEEDEEEESSRQETEEKILLDPNSEEVSEKDAKQIIETAKQDVDDEYSMQYSARGSQSYYTVAHAISERVEKQSALLINGTLKHYQLQGLEWMVSLYNNNLNGILADEMGLGKTIQTIALITYLMEHKRLNGPYLIIVPLSTLSNWTYEFDKWAPSVVKISYKGTPAMRRSLVPQLRSGKFNVLLTTYEYIIKDKHILAKIRWKYMIVDEGHRMKNHHCKLTQVLNTHYVAPRRILLTGTPLQNKLPELWALLNFLLPTIFKSCSTFEQWFNAPFAMTGERVDLNEEETILIIRRLHKVLRPFLLRRLKKEVESQLPEKVEYVIKCDMSALQKILYRHMQAKGILLTDGSEKDKKGKGGAKTLMNTIMQLRKICNHPYMFQHIEESFAEHLGYSNGVINGAELYRASGKFELLDRILPKLRATNHRVLLFCQMTSLMTIMEDYFAFRNFLYLRLDGTTKSEDRAALLKKFNEPGSQYFIFLLSTRAGGLGLNLQAADTVVIFDSDWNPHQDLQAQDRAHRIGQQNEVRVLRLCTVNSVEEKILAAAKYKLNVDQKVIQAGMFDQKSSSHERRAFLQAILEHEEENEEEDEVPDDETLNQMIARREEEFDLFMRMDMDRRREDARNPKRKPRLMEEDELPSWIIKDDAEVERLTCEEEEEKIFGRGSRQRRDVDYSDALTEKQWLRAIEDGNLEEMEEEVRLKKRKRRRNVDKDPAKEDVEKAKKRRGRPPAEKLSPNPPKLTKQMNAIIDTVINYKDRCNVEKVPSNSQLEIEGNSSGRQLSEVFIQLPSRKELPEYYELIRKPVDFKKIKERIRNHKYRSLGDLEKDVMLLCHNAQTFNLEGSQIYEDSIVLQSVFKSARQKIAKEEESEDESNEEEEEEDEEESESEAKSVKVKIKLNKKDDKGRDKGKGKKRPNRGKAKPVVSDFDSDEEQDEREQSEGSGTDDE
uniprot
proteins
disease_involvement
DISEASE: Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]: 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. {ECO:0000269|PubMed:22366787, ECO:0000269|PubMed:22426308, ECO:0000269|PubMed:23906836, ECO:0000269|PubMed:27665729}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Blepharophimosis-impaired intellectual development syndrome (BIS) [MIM:619293]: 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. {ECO:0000269|PubMed:32694869}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Schizophrenia (SCZD) [MIM:181500]: 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. {ECO:0000269|PubMed:19363039}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.4.-
uniprot
proteins
function
FUNCTION: 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). {ECO:0000250|UniProtKB:Q6DIC0, ECO:0000269|PubMed:15075294, ECO:0000303|PubMed:22952240, ECO:0000303|PubMed:26601204}.
uniprot
proteins
mass_dalton
181279
uniprot
proteins
post_translational_modification
PTM: During apoptosis, cleaved by cathepsin CTSG to produce a 160 kDa cleavage product which localizes to the cytosol. {ECO:0000269|PubMed:11259672}.; PTM: Ubiquitinated. {ECO:0000269|PubMed:11259672}.
uniprot
proteins
protein_family
SNF2/RAD54 helicase family
uniprot
proteins
pubmed
11259672
uniprot
proteins
pubmed
15075294
uniprot
proteins
pubmed
15107404
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
18318008
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18765789
uniprot
proteins
pubmed
19363039
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20111005
uniprot
proteins
pubmed
20460684
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22366787
uniprot
proteins
pubmed
22426308
uniprot
proteins
pubmed
22952240
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23906836
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25593309
uniprot
proteins
pubmed
26030138
uniprot
proteins
pubmed
26601204
uniprot
proteins
pubmed
27665729
uniprot
proteins
pubmed
30339381
uniprot
proteins
pubmed
32694869
uniprot
proteins
pubmed
39570797
uniprot
proteins
pubmed
8208605
uniprot
proteins
pubmed
8223438
uniprot
proteins
sequence_length
1590
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11259672, ECO:0000269|PubMed:25593309}. Note=Localizes to sites of DNA damage. {ECO:0000269|PubMed:25593309}.
uniprot
proteins