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Protein

Probable global transcription activator SNF2L2

Gene

SMARCA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transcriptional coactivator cooperating with nuclear hormone receptors to potentiate transcriptional activation. 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).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi749 – 756ATPPROSITE-ProRule annotation8

GO - Molecular functioni

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

GO - Biological processi

  • chromatin remodeling Source: BHF-UCL
  • negative regulation of cell growth Source: BHF-UCL
  • negative regulation of cell proliferation Source: UniProtKB
  • negative regulation of transcription, DNA-templated Source: BHF-UCL
  • negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  • nervous system development Source: UniProtKB-KW
  • positive regulation of transcription, DNA-templated Source: UniProtKB
  • positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  • regulation of transcription, DNA-templated Source: ProtInc
  • regulation of transcription from RNA polymerase II promoter Source: ProtInc
  • spermatid development Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Activator, Helicase, Hydrolase

Keywords - Biological processi

Neurogenesis, Transcription, Transcription regulation

Keywords - Ligandi

ATP-binding, DNA-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000080503-MONOMER.
ReactomeiR-HSA-3214858. RMTs methylate histone arginines.
SIGNORiP51531.

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:11098. SMARCA2.

Subcellular locationi

GO - Cellular componenti

  • intermediate filament cytoskeleton Source: HPA
  • intracellular membrane-bounded organelle Source: HPA
  • nBAF complex Source: UniProtKB
  • npBAF complex Source: UniProtKB
  • nuclear chromatin Source: BHF-UCL
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
  • SWI/SNF complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Nicolaides-Baraitser syndrome (NCBRS)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare disorder characterized by severe mental retardation with absent or limited speech, seizures, short stature, sparse hair, typical facial characteristics, brachydactyly, prominent finger joints and broad distal phalanges. Some of the features are progressive with time.
See also OMIM:601358
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068180752G → A in NCBRS. 1 PublicationCorresponds to variant rs281875198dbSNPEnsembl.1
Natural variantiVAR_068181755K → R in NCBRS. 1 PublicationCorresponds to variant rs281875203dbSNPEnsembl.1
Natural variantiVAR_068182756T → I in NCBRS. 1 PublicationCorresponds to variant rs281875191dbSNPEnsembl.1
Natural variantiVAR_068183851D → H in NCBRS. 1 PublicationCorresponds to variant rs281875206dbSNPEnsembl.1
Natural variantiVAR_068184852E → D in NCBRS. 1 PublicationCorresponds to variant rs281875193dbSNPEnsembl.1
Natural variantiVAR_068185852E → K in NCBRS. 2 PublicationsCorresponds to variant rs281875199dbSNPEnsembl.1
Natural variantiVAR_068186854H → N in NCBRS. 1 Publication1
Natural variantiVAR_068187854H → R in NCBRS. 1 PublicationCorresponds to variant rs281875202dbSNPEnsembl.1
Natural variantiVAR_068188855R → G in NCBRS. 1 PublicationCorresponds to variant rs281875207dbSNPEnsembl.1
Natural variantiVAR_076936855R → Q in NCBRS. 1 Publication1
Natural variantiVAR_076937880T → I in NCBRS. 1 Publication1
Natural variantiVAR_068189881G → R in NCBRS. 1 PublicationCorresponds to variant rs281875194dbSNPEnsembl.1
Natural variantiVAR_068190881G → V in NCBRS. 1 PublicationCorresponds to variant rs281875185dbSNPEnsembl.1
Natural variantiVAR_068191883P → L in NCBRS. 1 PublicationCorresponds to variant rs281875188dbSNPEnsembl.1
Natural variantiVAR_068192939H → Y in NCBRS. 1 PublicationCorresponds to variant rs281875190dbSNPEnsembl.1
Natural variantiVAR_068193946L → F in NCBRS. 1 PublicationCorresponds to variant rs281875205dbSNPEnsembl.1
Natural variantiVAR_068194946L → S in NCBRS. 1 PublicationCorresponds to variant rs281875200dbSNPEnsembl.1
Natural variantiVAR_0681951105R → C in NCBRS. 1 PublicationCorresponds to variant rs281875192dbSNPEnsembl.1
Natural variantiVAR_0681961105R → P in NCBRS. 1 PublicationCorresponds to variant rs281875197dbSNPEnsembl.1
Natural variantiVAR_0681971135L → P in NCBRS. 1 PublicationCorresponds to variant rs281875195dbSNPEnsembl.1
Natural variantiVAR_0681981146S → R in NCBRS. 1 PublicationCorresponds to variant rs281875204dbSNPEnsembl.1
Natural variantiVAR_0681991158D → V in NCBRS. 1 PublicationCorresponds to variant rs281875240dbSNPEnsembl.1
Natural variantiVAR_0682001159R → G in NCBRS. 1 PublicationCorresponds to variant rs281875184dbSNPEnsembl.1
Natural variantiVAR_0682011159R → L in NCBRS. 1 PublicationCorresponds to variant rs281875187dbSNPEnsembl.1
Natural variantiVAR_0682021159R → Q in NCBRS. 1 PublicationCorresponds to variant rs281875187dbSNPEnsembl.1
Natural variantiVAR_0682031162R → H in NCBRS. 1 PublicationCorresponds to variant rs281875186dbSNPEnsembl.1
Natural variantiVAR_0682041188A → P in NCBRS. 1 PublicationCorresponds to variant rs281875196dbSNPEnsembl.1
Natural variantiVAR_0682051201A → V in NCBRS. 1 PublicationCorresponds to variant rs281875189dbSNPEnsembl.1
Natural variantiVAR_0682061202G → C in NCBRS. 1 PublicationCorresponds to variant rs281875239dbSNPEnsembl.1
Natural variantiVAR_0682071205D → G in NCBRS. 1 PublicationCorresponds to variant rs281875201dbSNPEnsembl.1
Natural variantiVAR_0682081213R → W in NCBRS. 1 PublicationCorresponds to variant rs281875238dbSNPEnsembl.1
Schizophrenia (SCZD)1 Publication
Disease susceptibility may be associated with variations affecting the gene represented in this entry.
Disease descriptionA complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder.
See also OMIM:181500

Keywords - Diseasei

Disease mutation, Hypotrichosis, Mental retardation, Schizophrenia

Organism-specific databases

DisGeNETi6595.
MalaCardsiSMARCA2.
MIMi181500. phenotype.
601358. phenotype.
OpenTargetsiENSG00000080503.
Orphaneti3051. intellectual disability - sparse hair - brachydactyly.
PharmGKBiPA35948.

Chemistry databases

ChEMBLiCHEMBL2362979.

Polymorphism and mutation databases

BioMutaiSMARCA2.
DMDMi212276472.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000743521 – 1590Probable global transcription activator SNF2L2Add BLAST1590

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei172PhosphoserineCombined sources1
Modified residuei175PhosphoserineCombined sources1
Modified residuei316PhosphoserineBy similarity1
Modified residuei329PhosphoserineCombined sources1
Modified residuei591PhosphoserineCombined sources1
Modified residuei604N6-acetyllysineBy similarity1
Modified residuei666PhosphoserineCombined sources1
Modified residuei997N6-acetyllysineCombined sources1
Modified residuei999N6-acetyllysineCombined sources1
Modified residuei1377PhosphoserineCombined sources1
Modified residuei1512PhosphoserineCombined sources1
Modified residuei1516PhosphoserineCombined sources1
Modified residuei1528PhosphoserineCombined sources1
Modified residuei1568PhosphoserineCombined sources1
Modified residuei1572PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP51531.
MaxQBiP51531.
PaxDbiP51531.
PeptideAtlasiP51531.
PRIDEiP51531.

PTM databases

iPTMnetiP51531.
PhosphoSitePlusiP51531.

Miscellaneous databases

PMAP-CutDBP51531.

Expressioni

Gene expression databases

BgeeiENSG00000080503.
CleanExiHS_SMARCA2.
ExpressionAtlasiP51531. baseline and differential.
GenevisibleiP51531. HS.

Organism-specific databases

HPAiCAB037276.
HPA029981.

Interactioni

Subunit structurei

Component of the BAF complex, which includes at least actin (ACTB), ARID1A, ARID1B/BAF250, SMARCA2, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. 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 CEBPA (when phosphorylated)(PubMed:15107404). Interacts with CEBPB (when not methylated)(PubMed:20111005).By similarity2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
P043268EBI-679562,EBI-7333987From a different organism.
ARID1AO144973EBI-679562,EBI-637887
ARID1BQ8NFD53EBI-679562,EBI-679921
BEND7Q8N7W2-23EBI-10212306,EBI-10181188
KHDRBS1Q076662EBI-679562,EBI-1364
MECP2P516084EBI-679562,EBI-1189067
SDCBPO005603EBI-10212306,EBI-727004

Protein-protein interaction databases

BioGridi112479. 114 interactors.
DIPiDIP-29005N.
IntActiP51531. 33 interactors.
MINTiMINT-1898892.
STRINGi9606.ENSP00000265773.

Chemistry databases

BindingDBiP51531.

Structurei

Secondary structure

11590
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi1382 – 1396Combined sources15
Beta strandi1418 – 1420Combined sources3
Helixi1425 – 1427Combined sources3
Turni1433 – 1435Combined sources3
Helixi1437 – 1442Combined sources6
Helixi1449 – 1457Combined sources9
Helixi1464 – 1481Combined sources18
Helixi1487 – 1507Combined sources21

3D structure databases

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

Miscellaneous databases

EvolutionaryTraceiP51531.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini173 – 208QLQPROSITE-ProRule annotationAdd BLAST36
Domaini436 – 508HSAPROSITE-ProRule annotationAdd BLAST73
Domaini736 – 901Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST166
Domaini1054 – 1216Helicase C-terminalPROSITE-ProRule annotationAdd BLAST163
Domaini1419 – 1489BromoPROSITE-ProRule annotationAdd BLAST71

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi851 – 854DEGH box4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi216 – 238Poly-GlnAdd BLAST23
Compositional biasi245 – 253Poly-Gln9
Compositional biasi559 – 562Poly-Arg4
Compositional biasi643 – 650Poly-Glu8
Compositional biasi1297 – 1301Poly-Glu5
Compositional biasi1518 – 1529Poly-GluAdd BLAST12

Sequence similaritiesi

Belongs to the SNF2/RAD54 helicase family.Curated
Contains 1 bromo domain.PROSITE-ProRule annotation
Contains 1 helicase ATP-binding domain.PROSITE-ProRule annotation
Contains 1 helicase C-terminal domain.PROSITE-ProRule annotation
Contains 1 HSA domain.PROSITE-ProRule annotation
Contains 1 QLQ domain.PROSITE-ProRule annotation

Keywords - Domaini

Bromodomain

Phylogenomic databases

eggNOGiKOG0386. Eukaryota.
COG0553. LUCA.
COG5076. LUCA.
GeneTreeiENSGT00550000074659.
HOGENOMiHOG000172363.
HOVERGENiHBG056636.
InParanoidiP51531.
KOiK11647.
OMAiEYHRSIS.
OrthoDBiEOG091G01R9.
PhylomeDBiP51531.
TreeFamiTF300785.

Family and domain databases

Gene3Di1.20.920.10. 1 hit.
3.40.50.300. 2 hits.
InterProiIPR006576. BRK_domain.
IPR001487. Bromodomain.
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.
IPR000330. SNF2_N.
[Graphical view]
PANTHERiPTHR10799:SF541. PTHR10799:SF541. 3 hits.
PfamiPF07533. 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.
[Graphical view]
PRINTSiPR00503. BROMODOMAIN.
SMARTiSM00592. 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.
[Graphical view]
SUPFAMiSSF47370. SSF47370. 1 hit.
SSF52540. SSF52540. 2 hits.
PROSITEiPS00633. 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.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

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

« Hide

        10         20         30         40         50
MSTPTDPGAM PHPGPSPGPG PSPGPILGPS PGPGPSPGSV HSMMGPSPGP
60 70 80 90 100
PSVSHPMPTM GSTDFPQEGM HQMHKPIDGI HDKGIVEDIH CGSMKGTGMR
110 120 130 140 150
PPHPGMGPPQ SPMDQHSQGY MSPHPSPLGA PEHVSSPMSG GGPTPPQMPP
160 170 180 190 200
SQPGALIPGD PQAMSQPNRG PSPFSPVQLH QLRAQILAYK MLARGQPLPE
210 220 230 240 250
TLQLAVQGKR TLPGLQQQQQ QQQQQQQQQQ QQQQQQQQPQ QQPPQPQTQQ
260 270 280 290 300
QQQPALVNYN RPSGPGPELS GPSTPQKLPV PAPGGRPSPA PPAAAQPPAA
310 320 330 340 350
AVPGPSVPQP APGQPSPVLQ LQQKQSRISP IQKPQGLDPV EILQEREYRL
360 370 380 390 400
QARIAHRIQE LENLPGSLPP DLRTKATVEL KALRLLNFQR QLRQEVVACM
410 420 430 440 450
RRDTTLETAL NSKAYKRSKR QTLREARMTE KLEKQQKIEQ ERKRRQKHQE
460 470 480 490 500
YLNSILQHAK DFKEYHRSVA GKIQKLSKAV ATWHANTERE QKKETERIEK
510 520 530 540 550
ERMRRLMAED EEGYRKLIDQ KKDRRLAYLL QQTDEYVANL TNLVWEHKQA
560 570 580 590 600
QAAKEKKKRR RRKKKAEENA EGGESALGPD GEPIDESSQM SDLPVKVTHT
610 620 630 640 650
ETGKVLFGPE APKASQLDAW LEMNPGYEVA PRSDSEESDS DYEEEDEEEE
660 670 680 690 700
SSRQETEEKI LLDPNSEEVS EKDAKQIIET AKQDVDDEYS MQYSARGSQS
710 720 730 740 750
YYTVAHAISE RVEKQSALLI NGTLKHYQLQ GLEWMVSLYN NNLNGILADE
760 770 780 790 800
MGLGKTIQTI ALITYLMEHK RLNGPYLIIV PLSTLSNWTY EFDKWAPSVV
810 820 830 840 850
KISYKGTPAM RRSLVPQLRS GKFNVLLTTY EYIIKDKHIL AKIRWKYMIV
860 870 880 890 900
DEGHRMKNHH CKLTQVLNTH YVAPRRILLT GTPLQNKLPE LWALLNFLLP
910 920 930 940 950
TIFKSCSTFE QWFNAPFAMT GERVDLNEEE TILIIRRLHK VLRPFLLRRL
960 970 980 990 1000
KKEVESQLPE KVEYVIKCDM SALQKILYRH MQAKGILLTD GSEKDKKGKG
1010 1020 1030 1040 1050
GAKTLMNTIM QLRKICNHPY MFQHIEESFA EHLGYSNGVI NGAELYRASG
1060 1070 1080 1090 1100
KFELLDRILP KLRATNHRVL LFCQMTSLMT IMEDYFAFRN FLYLRLDGTT
1110 1120 1130 1140 1150
KSEDRAALLK KFNEPGSQYF IFLLSTRAGG LGLNLQAADT VVIFDSDWNP
1160 1170 1180 1190 1200
HQDLQAQDRA HRIGQQNEVR VLRLCTVNSV EEKILAAAKY KLNVDQKVIQ
1210 1220 1230 1240 1250
AGMFDQKSSS HERRAFLQAI LEHEEENEEE DEVPDDETLN QMIARREEEF
1260 1270 1280 1290 1300
DLFMRMDMDR RREDARNPKR KPRLMEEDEL PSWIIKDDAE VERLTCEEEE
1310 1320 1330 1340 1350
EKIFGRGSRQ RRDVDYSDAL TEKQWLRAIE DGNLEEMEEE VRLKKRKRRR
1360 1370 1380 1390 1400
NVDKDPAKED VEKAKKRRGR PPAEKLSPNP PKLTKQMNAI IDTVINYKDR
1410 1420 1430 1440 1450
CNVEKVPSNS QLEIEGNSSG RQLSEVFIQL PSRKELPEYY ELIRKPVDFK
1460 1470 1480 1490 1500
KIKERIRNHK YRSLGDLEKD VMLLCHNAQT FNLEGSQIYE DSIVLQSVFK
1510 1520 1530 1540 1550
SARQKIAKEE ESEDESNEEE EEEDEEESES EAKSVKVKIK LNKKDDKGRD
1560 1570 1580 1590
KGKGKKRPNR GKAKPVVSDF DSDEEQDERE QSEGSGTDDE
Length:1,590
Mass (Da):181,279
Last modified:November 4, 2008 - v2
Checksum:iCE69BBB287D35AB5
GO
Isoform Short (identifier: P51531-2) [UniParc]FASTAAdd to basket

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

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti237 – 240Missing in CAA51407 (PubMed:8223438).Curated4
Sequence conflicti394Q → E in BAA05142 (PubMed:8208605).Curated1
Sequence conflicti513G → S in BAA05142 (PubMed:8208605).Curated1
Sequence conflicti711R → W in CAA51407 (PubMed:8223438).Curated1
Sequence conflicti1139D → H in BAA05142 (PubMed:8208605).Curated1
Sequence conflicti1394V → C in CAA51407 (PubMed:8223438).Curated1
Sequence conflicti1400R → S in CAA51407 (PubMed:8223438).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068180752G → A in NCBRS. 1 PublicationCorresponds to variant rs281875198dbSNPEnsembl.1
Natural variantiVAR_068181755K → R in NCBRS. 1 PublicationCorresponds to variant rs281875203dbSNPEnsembl.1
Natural variantiVAR_068182756T → I in NCBRS. 1 PublicationCorresponds to variant rs281875191dbSNPEnsembl.1
Natural variantiVAR_068183851D → H in NCBRS. 1 PublicationCorresponds to variant rs281875206dbSNPEnsembl.1
Natural variantiVAR_068184852E → D in NCBRS. 1 PublicationCorresponds to variant rs281875193dbSNPEnsembl.1
Natural variantiVAR_068185852E → K in NCBRS. 2 PublicationsCorresponds to variant rs281875199dbSNPEnsembl.1
Natural variantiVAR_068186854H → N in NCBRS. 1 Publication1
Natural variantiVAR_068187854H → R in NCBRS. 1 PublicationCorresponds to variant rs281875202dbSNPEnsembl.1
Natural variantiVAR_068188855R → G in NCBRS. 1 PublicationCorresponds to variant rs281875207dbSNPEnsembl.1
Natural variantiVAR_076936855R → Q in NCBRS. 1 Publication1
Natural variantiVAR_076937880T → I in NCBRS. 1 Publication1
Natural variantiVAR_068189881G → R in NCBRS. 1 PublicationCorresponds to variant rs281875194dbSNPEnsembl.1
Natural variantiVAR_068190881G → V in NCBRS. 1 PublicationCorresponds to variant rs281875185dbSNPEnsembl.1
Natural variantiVAR_068191883P → L in NCBRS. 1 PublicationCorresponds to variant rs281875188dbSNPEnsembl.1
Natural variantiVAR_068192939H → Y in NCBRS. 1 PublicationCorresponds to variant rs281875190dbSNPEnsembl.1
Natural variantiVAR_068193946L → F in NCBRS. 1 PublicationCorresponds to variant rs281875205dbSNPEnsembl.1
Natural variantiVAR_068194946L → S in NCBRS. 1 PublicationCorresponds to variant rs281875200dbSNPEnsembl.1
Natural variantiVAR_0681951105R → C in NCBRS. 1 PublicationCorresponds to variant rs281875192dbSNPEnsembl.1
Natural variantiVAR_0681961105R → P in NCBRS. 1 PublicationCorresponds to variant rs281875197dbSNPEnsembl.1
Natural variantiVAR_0681971135L → P in NCBRS. 1 PublicationCorresponds to variant rs281875195dbSNPEnsembl.1
Natural variantiVAR_0681981146S → R in NCBRS. 1 PublicationCorresponds to variant rs281875204dbSNPEnsembl.1
Natural variantiVAR_0681991158D → V in NCBRS. 1 PublicationCorresponds to variant rs281875240dbSNPEnsembl.1
Natural variantiVAR_0682001159R → G in NCBRS. 1 PublicationCorresponds to variant rs281875184dbSNPEnsembl.1
Natural variantiVAR_0682011159R → L in NCBRS. 1 PublicationCorresponds to variant rs281875187dbSNPEnsembl.1
Natural variantiVAR_0682021159R → Q in NCBRS. 1 PublicationCorresponds to variant rs281875187dbSNPEnsembl.1
Natural variantiVAR_0682031162R → H in NCBRS. 1 PublicationCorresponds to variant rs281875186dbSNPEnsembl.1
Natural variantiVAR_0682041188A → P in NCBRS. 1 PublicationCorresponds to variant rs281875196dbSNPEnsembl.1
Natural variantiVAR_0682051201A → V in NCBRS. 1 PublicationCorresponds to variant rs281875189dbSNPEnsembl.1
Natural variantiVAR_0682061202G → C in NCBRS. 1 PublicationCorresponds to variant rs281875239dbSNPEnsembl.1
Natural variantiVAR_0682071205D → G in NCBRS. 1 PublicationCorresponds to variant rs281875201dbSNPEnsembl.1
Natural variantiVAR_0682081213R → W in NCBRS. 1 PublicationCorresponds to variant rs281875238dbSNPEnsembl.1
Natural variantiVAR_0495011416G → A.Corresponds to variant rs3793510dbSNPEnsembl.1
Natural variantiVAR_0495021546D → E Polymorphism; associated with schizophrenia in some populations; results in reduced localization to the nucleus; decreased interaction with chromatin. 1 PublicationCorresponds to variant rs2296212dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0005771400 – 1417Missing in isoform Short. 1 PublicationAdd BLAST18

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X72889 mRNA. Translation: CAA51407.1.
D26155 mRNA. Translation: BAA05142.1.
AL359076, AL138755 Genomic DNA. Translation: CAI12967.1.
AL359076, AL138755 Genomic DNA. Translation: CAI12968.1.
AL138755, AL359076 Genomic DNA. Translation: CAI14599.1.
AL138755, AL359076 Genomic DNA. Translation: CAI14600.1.
CH471071 Genomic DNA. Translation: EAW58811.1.
CH471071 Genomic DNA. Translation: EAW58813.1.
CH471071 Genomic DNA. Translation: EAW58814.1.
CH471071 Genomic DNA. Translation: EAW58815.1.
CCDSiCCDS34977.1. [P51531-1]
CCDS34978.1. [P51531-2]
PIRiS39580.
S45251.
RefSeqiNP_001276325.1. NM_001289396.1. [P51531-1]
NP_001276326.1. NM_001289397.1.
NP_003061.3. NM_003070.4. [P51531-1]
NP_620614.2. NM_139045.3. [P51531-2]
UniGeneiHs.298990.
Hs.644901.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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, AL138755 Genomic DNA. Translation: CAI12967.1.
AL359076, AL138755 Genomic DNA. Translation: CAI12968.1.
AL138755, AL359076 Genomic DNA. Translation: CAI14599.1.
AL138755, AL359076 Genomic DNA. Translation: CAI14600.1.
CH471071 Genomic DNA. Translation: EAW58811.1.
CH471071 Genomic DNA. Translation: EAW58813.1.
CH471071 Genomic DNA. Translation: EAW58814.1.
CH471071 Genomic DNA. Translation: EAW58815.1.
CCDSiCCDS34977.1. [P51531-1]
CCDS34978.1. [P51531-2]
PIRiS39580.
S45251.
RefSeqiNP_001276325.1. NM_001289396.1. [P51531-1]
NP_001276326.1. NM_001289397.1.
NP_003061.3. NM_003070.4. [P51531-1]
NP_620614.2. NM_139045.3. [P51531-2]
UniGeneiHs.298990.
Hs.644901.

3D structure databases

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

Protein-protein interaction databases

BioGridi112479. 114 interactors.
DIPiDIP-29005N.
IntActiP51531. 33 interactors.
MINTiMINT-1898892.
STRINGi9606.ENSP00000265773.

Chemistry databases

BindingDBiP51531.
ChEMBLiCHEMBL2362979.

PTM databases

iPTMnetiP51531.
PhosphoSitePlusiP51531.

Polymorphism and mutation databases

BioMutaiSMARCA2.
DMDMi212276472.

Proteomic databases

EPDiP51531.
MaxQBiP51531.
PaxDbiP51531.
PeptideAtlasiP51531.
PRIDEiP51531.

Protocols and materials databases

DNASUi6595.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi6595.
DisGeNETi6595.
GeneCardsiSMARCA2.
HGNCiHGNC:11098. SMARCA2.
HPAiCAB037276.
HPA029981.
MalaCardsiSMARCA2.
MIMi181500. phenotype.
600014. gene.
601358. phenotype.
neXtProtiNX_P51531.
OpenTargetsiENSG00000080503.
Orphaneti3051. intellectual disability - sparse hair - brachydactyly.
PharmGKBiPA35948.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0386. Eukaryota.
COG0553. LUCA.
COG5076. LUCA.
GeneTreeiENSGT00550000074659.
HOGENOMiHOG000172363.
HOVERGENiHBG056636.
InParanoidiP51531.
KOiK11647.
OMAiEYHRSIS.
OrthoDBiEOG091G01R9.
PhylomeDBiP51531.
TreeFamiTF300785.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000080503-MONOMER.
ReactomeiR-HSA-3214858. RMTs methylate histone arginines.
SIGNORiP51531.

Miscellaneous databases

ChiTaRSiSMARCA2. human.
EvolutionaryTraceiP51531.
GeneWikiiSMARCA2.
GenomeRNAii6595.
PMAP-CutDBP51531.
PROiP51531.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000080503.
CleanExiHS_SMARCA2.
ExpressionAtlasiP51531. baseline and differential.
GenevisibleiP51531. HS.

Family and domain databases

Gene3Di1.20.920.10. 1 hit.
3.40.50.300. 2 hits.
InterProiIPR006576. BRK_domain.
IPR001487. Bromodomain.
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.
IPR000330. SNF2_N.
[Graphical view]
PANTHERiPTHR10799:SF541. PTHR10799:SF541. 3 hits.
PfamiPF07533. 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.
[Graphical view]
PRINTSiPR00503. BROMODOMAIN.
SMARTiSM00592. 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.
[Graphical view]
SUPFAMiSSF47370. SSF47370. 1 hit.
SSF52540. SSF52540. 2 hits.
PROSITEiPS00633. 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.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSMCA2_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 181 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.