UniProtKB - P51531 (SMCA2_HUMAN)
Probable global transcription activator SNF2L2
SMARCA2
Functioni
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 749 – 756 | ATPPROSITE-ProRule annotation | 8 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- chromatin binding Source: Ensembl
- DNA binding Source: GO_Central
- DNA-dependent ATPase activity Source: GO_Central
- helicase activity Source: ProtInc
- histone binding Source: InterPro
- nucleosome-dependent ATPase activity Source: InterPro
- transcription coactivator activity Source: UniProtKB
- transcription regulatory region sequence-specific DNA binding Source: UniProtKB
GO - Biological processi
- ATP-dependent chromatin remodeling Source: GO_Central
- chromatin remodeling Source: BHF-UCL
- negative regulation of cell growth Source: BHF-UCL
- negative regulation of cell population proliferation Source: UniProtKB
- negative regulation of transcription, DNA-templated Source: BHF-UCL
- negative regulation of transcription by RNA polymerase II Source: BHF-UCL
- nervous system development Source: UniProtKB-KW
- positive regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: BHF-UCL
- regulation of transcription, DNA-templated Source: ProtInc
- regulation of transcription by RNA polymerase II Source: ProtInc
- spermatid development Source: Ensembl
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 | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:11098, SMARCA2 |
MIMi | 600014, gene |
neXtProti | NX_P51531 |
VEuPathDBi | HostDB:ENSG00000080503.20 |
Subcellular locationi
Nucleus
Cytoskeleton
- intermediate filament cytoskeleton Source: HPA
Nucleus
- nBAF complex Source: UniProtKB
- npBAF complex Source: UniProtKB
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
- SWI/SNF complex Source: UniProtKB
Other locations
- chromatin Source: BHF-UCL
- intracellular membrane-bounded organelle Source: HPA
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Nicolaides-Baraitser syndrome (NCBRS)4 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | 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
Keywords - Diseasei
Disease variant, Hypotrichosis, Mental retardation, SchizophreniaOrganism-specific databases
DisGeNETi | 6595 |
GeneReviewsi | SMARCA2 |
MalaCardsi | SMARCA2 |
MIMi | 181500, phenotype 601358, phenotype |
OpenTargetsi | ENSG00000080503 |
Orphaneti | 3051, Intellectual disability-sparse hair-brachydactyly syndrome |
PharmGKBi | PA35948 |
Miscellaneous databases
Pharosi | P51531, Tchem |
Chemistry databases
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 | Graphical view | 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 conjugationProteomic databases
EPDi | P51531 |
jPOSTi | P51531 |
MassIVEi | P51531 |
MaxQBi | P51531 |
PaxDbi | P51531 |
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
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 PublicationsBinary interactionsi
Hide detailsP51531
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
Protein-protein interaction databases
BioGRIDi | 112479, 204 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, 89 interactors |
MINTi | P51531 |
STRINGi | 9606.ENSP00000265773 |
Chemistry databases
BindingDBi | P51531 |
Miscellaneous databases
RNActi | P51531, protein |
Structurei
Secondary structure
3D structure databases
SMRi | P51531 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P51531 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | 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 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 851 – 854 | DEGH box | 4 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 216 – 238 | Poly-GlnAdd BLAST | 23 | |
Compositional biasi | 245 – 253 | Poly-Gln | 9 | |
Compositional biasi | 559 – 562 | Poly-Arg | 4 | |
Compositional biasi | 643 – 650 | Poly-Glu | 8 | |
Compositional biasi | 1297 – 1301 | Poly-Glu | 5 | |
Compositional biasi | 1518 – 1529 | Poly-GluAdd BLAST | 12 |
Sequence similaritiesi
Keywords - Domaini
BromodomainPhylogenomic databases
eggNOGi | KOG0386, Eukaryota |
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_dom |
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 |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 34 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
The sequence of this isoform differs from the canonical sequence as follows:
1400-1417: Missing.
Computationally mapped potential isoform sequencesi
There are 34 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF6VDE0 | F6VDE0_HUMAN | Probable global transcription activ... | SMARCA2 | 1,514 | Annotation score: | ||
A0A1B0GU54 | A0A1B0GU54_HUMAN | Probable global transcription activ... | SMARCA2 | 288 | Annotation score: | ||
A0A1B0GWA8 | A0A1B0GWA8_HUMAN | Probable global transcription activ... | SMARCA2 | 279 | Annotation score: | ||
A0A0U1RQZ9 | A0A0U1RQZ9_HUMAN | Probable global transcription activ... | SMARCA2 | 1,428 | Annotation score: | ||
B1ALF6 | B1ALF6_HUMAN | Probable global transcription activ... | SMARCA2 | 278 | Annotation score: | ||
A0A0A0MT03 | A0A0A0MT03_HUMAN | Probable global transcription activ... | SMARCA2 | 215 | Annotation score: | ||
B4DNT1 | B4DNT1_HUMAN | Probable global transcription activ... | SMARCA2 | 276 | Annotation score: | ||
F6RS74 | F6RS74_HUMAN | Probable global transcription activ... | SMARCA2 | 193 | Annotation score: | ||
F6XE55 | F6XE55_HUMAN | Probable global transcription activ... | SMARCA2 | 228 | Annotation score: | ||
A0A0U1RQU0 | A0A0U1RQU0_HUMAN | Probable global transcription activ... | SMARCA2 | 200 | Annotation score: | ||
There are more potential isoformsShow all |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | 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 | Graphical view | 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 |
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] |
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] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
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 |
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: PDBei RCSB PDBi 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, 204 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, 89 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, 212 antibodies |
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 |
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 |
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_dom |
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 |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SMCA2_HUMAN | |
Accessioni | P51531Primary (citable) accession number: P51531 Secondary accession number(s): B1ALG3 D3DRH5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | November 4, 2008 | |
Last modified: | April 7, 2021 | |
This is version 218 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 proteomeDocuments
- 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