SMARCA2 Gene
protein-coding GIFtS: 65
GCID: GC09P002005
|
|
SWI/SNF related, matrix associated, actin dependent regulator...
(Previous symbol: SNF2L2)
| |
Aliases
for SMARCA2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin,Subfamily A, Member 21 2 | | ATP-Dependent Helicase SMARCA22 3 | | SNF2L21 2 3 5 | | BRG1-Associated Factor 190B2 3 | | BRM1 2 3 | | NCBRS2 | | HBRM1 | | Global Transcription Activator Homologous Sequence2 | | BAF1901 2 | | Probable Global Transcription Activator SNF2L22 | | SNF21 2 | | SNF2/SWI2-Like Protein 22 | | SNF2LA1 2 | | Sucrose Nonfermenting 2-Like Protein 22 | | SWI21 2 | | SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin A22 | | Sth1p1 2 | | EC 3.6.4.-3 | | HSNF2a1 | | SNF2A3 | | Protein Brahma Homolog2 3 | | SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of ChromatinSubfamily A Member 23 | | BAF190B2 3 | | EC 3.6.18 | | SNF2-Alpha1 | | |
Export aliases for SMARCA2 gene to outside databasesPrevious GC identifers: GC09P002169 GC09P001996 |
Summaries
for SMARCA2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for SMARCA2:
The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahmaprotein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulatetranscription of certain genes by altering the chromatin structure around those genes. The encoded protein is part ofthe large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation ofgenes normally repressed by chromatin. Two transcript variants encoding different isoforms have been found for thisgene, which contains a trinucleotide repeat (CAG) length polymorphism. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: SMCA2_HUMAN, P51531Function: Transcriptional coactivator cooperating with nuclear hormone receptors to potentiate transcriptionalactivation. Also involved in vitamin D-coupled transcription regulation via its association with the WINAC complex, achromatin-remodeling complex recruited by vitamin D receptor (VDR), which is required for the ligand-boundVDR-mediated transrepression of the CYP27B1 gene. Belongs to the neural progenitors-specific chromatin remodelingcomplex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural developmenta switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycleand become committed to their adult state. The transition from proliferating neural stem/progenitor cells topost-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitorsexit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, areexchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specificcomplexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neuralstem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendritegrowth (By similarity)
Gene Wiki entry for SMARCA2
|
Genomic Views
for SMARCA2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000009.11 NC_018920.1 NT_008413.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the SMARCA2 gene promoter:
c-Fos AP-1 c-Jun
Other transcription factors
Search SABiosciences Chromatin IP Primers for SMARCA2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMARCA2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 9p22.3 Ensembl cytogenetic band: 9p24.3 HGNC cytogenetic band: 9p24.3SMARCA2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 9 GeneLoc Exon Structure GeneLoc location for GC09P002005: view genomic region
(about GC identifiers)
Start:
|
2,015,342 bp from pter |
End:
|
2,193,624 bp from pter |
Size:
|
178,283 bases |
Orientation:
|
plus strand |
|
Proteins
for SMARCA2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: SMCA2_HUMAN, P51531 (See
protein sequence)Recommended Name: Probable global transcription activator SNF2L2 Size: 1590 amino acids; 181279 Da
Subunit: 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 containsDPF3. Component of the WINAC complex, at least composed of SMARCA2, SMARCA4, SMARCB1, SMARCC1, SMARCC2, SMARCD1,SMARCE1, ACTL6A, BAZ1B/WSTF, ARID1A, SUPT16H, CHAF1A and TOP2B. Binds TOPBP1. Component of neural progenitors-specificchromatin 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 (nBAFcomplex) 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)
Subcellular location: Nucleus
1 PDB 3D structure from  and Proteopedia  for SMARCA2:2DAT (3D)
Secondary accessions: B1ALG3 B1ALG4 D3DRH4 D3DRH5Alternative splicing: 2 isoforms: P51531-1 P51531-2 Explore the universe of human proteins at neXtProt for SMARCA2: NX_P51531
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P51531
4/12 DME Specific Peptides for SMARCA2 (P51531) (see all 12)
SMARCA2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_003061.3 NP_620614.2
ENSEMBL proteins: ENSP00000392081 ENSP00000415218 ENSP00000409398 ENSP00000371638 ENSP00000371629 ENSP00000401096 ENSP00000305411 ENSP00000413057 ENSP00000371621 ENSP00000387486 ENSP00000371620 ENSP00000371618 ENSP00000412242 ENSP00000371617 ENSP00000265773 ENSP00000349788 ENSP00000324770
Human Recombinant Protein Products for SMARCA2:
Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table
SMARCA2 for ontologies About GeneDecksing
SMARCA2 Antibody Products:
Assay Products for SMARCA2: |
Protein
Domains /
Families
for SMARCA2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SMARCA2 for domains About GeneDecksing
5/10 InterPro domains/families (see all 10):Graphical View of Domain Structure for InterPro Entry P51531ProtoNet protein and cluster: P51531 4 Blocks protein families: IPB000330 SNF2 related domain IPB001487 Bromodomain signature IPB006562 HSA IPB006576 Domain in transcription and CHROMO domain helicase
UniProtKB/Swiss-Prot: SMCA2_HUMAN, P51531Similarity: Belongs to the SNF2/RAD54 helicase familySimilarity: Contains 1 bromo domainSimilarity: Contains 1 helicase ATP-binding domainSimilarity: Contains 1 helicase C-terminal domainSimilarity: Contains 1 HSA domainSimilarity: Contains 1 QLQ domain |
Function
for SMARCA2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: SMCA2_HUMAN, P51531Function: Transcriptional coactivator cooperating with nuclear hormone receptors to potentiate transcriptionalactivation. Also involved in vitamin D-coupled transcription regulation via its association with the WINAC complex, achromatin-remodeling complex recruited by vitamin D receptor (VDR), which is required for the ligand-boundVDR-mediated transrepression of the CYP27B1 gene. Belongs to the neural progenitors-specific chromatin remodelingcomplex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural developmenta switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycleand become committed to their adult state. The transition from proliferating neural stem/progenitor cells topost-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitorsexit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, areexchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specificcomplexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neuralstem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendritegrowth (By similarity) Genatlas biochemistry entry for SMARCA2:general transcriptional activator S cerevisiae SWI/SNF related protein,matrix associated,actin-dependent regulator ofchromatin,subfamily A,member 2,component of the chromatin remodeling complex,Drosophila ISWI (initiator of SWI)homolog
Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.-1
Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table
SMARCA2 for ontologies About GeneDecksing
Phenotypes:
3 GenomeRNAi human phenotypes for SMARCA2:
10 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Smarca2):
SMARCA2 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-out Smarca2tm1Mya for SMARCA2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SMARCA2 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SMARCA2 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): SMARCA2 (NM_139045) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SMARCA2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMARCA2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMARCA2 |
|
Pathways & Interactions
for SMARCA2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Development_Ligand-dependent activation of the ESR1/AP-1 pathway | | | 2 | BRCA1 Pathway | | | 3 | AMPK Enzyme Complex Pathway | | | 4 | C-MYB transcription factor network | | | 5 | Regulation of Androgen receptor activity | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 EMD Millipore Pathways for SMARCA2
4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SMARCA2
1 
Cell Signaling Technology (CST) Pathway for SMARCA2
2  GeneGo (Thomson Reuters) Pathways for SMARCA2
3  BioSystems Pathways for SMARCA2
SMARCA2 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SMARCA2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/692 Interacting proteins for SMARCA2 (P515311, 2, 3 ENSP000002657734) via UniProtKB, MINT, STRING, and/or I2D (see all 692)About this table
Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table
SMARCA2 for ontologies About GeneDecksing
|
Drugs & Compounds
for SMARCA2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
SMARCA2 for compounds About GeneDecksing
 Browse Tocris compounds for SMARCA2
1 Novoseek chemical compound relationship for SMARCA2 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| estrogen |
0 |
1 |
12775722 (1) |
Search CenterWatch for drugs/clinical trials and news about SMARCA2 / SMCA2
|
Transcripts
for SMARCA2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for SMARCA2 gene (2 alternative transcripts): NM_003070.3 NM_139045.2 Unigene Cluster for SMARCA2: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 Hs.298990 [show with all ESTs]Unigene Representative Sequence: X7288918 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000450198 ENST00000457226 ENST00000439732 ENST00000382203 ENST00000382194
ENST00000491574 ENST00000452193 ENST00000302401(uc011llw.2 uc011llx.2 uc003zhe.3)
ENST00000423555 ENST00000382186 ENST00000417599 ENST00000382185 ENST00000382183
ENST00000416751 ENST00000382182 ENST00000349721(uc003zhc.3) ENST00000357248(uc003zhd.3 uc010mha.3 uc010mhb.3)
ENST00000324954
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SMARCA2 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SMARCA2 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): SMARCA2 (NM_139045) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SMARCA2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMARCA2 |
Additional cDNA sequence: AK094076.1 AK296373.1 AK298045.1 AK299683.1 AK300093.1 AK308941.1 AY293824.1 AY295762.1 BC040029.1 BC068252.1 X72889.1 24/32 DOTS entries (see all 32): DT.75153042 DT.97778663 DT.95179426 DT.95111018 DT.100798672 DT.97813912 DT.121144832 DT.91647776 DT.97764661 DT.95111023 DT.100038591 DT.121144798 DT.70101659 DT.95139202 DT.91768471 DT.91768472 DT.95111028 DT.97823952 DT.100798671 DT.121144768 DT.121144770 DT.121144816 DT.121144908 DT.121144909 24/395 AceView cDNA sequences (see all 395): AI927960 BX509741 BU146104 N90602 AI952833 H41640 CD675252 BF435093 BU935015 W00577 AI833197 BQ006819 BU726100 BU782840 BM477198 NM_139045 AA875986 AI743434 AA922187 BF116076 BC040029 BX480137 AA897654 AA243388
GeneLoc Exon Structure
5/33 Alternative Splicing Database (ASD) splice patterns (SP) for SMARCA2 (see all 33) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17a | · |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | - | | - | | | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | | | | | | | - | | | | | | | |
| ExUns: | 17b | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | ^ | 21 | ^ | 22a | · | 22b | · | 22c | ^ | 23 | ^ | 24a | · | 24b | · | 24c | ^ | 25 | ^ | 26 | ^ | 27a | · | 27b | ^ | 28 | ^ | 29 | ^ | 30a | · | 30b | ^ | 31 | ^ | 32a | · | 32b | · | 32c | ^ | 33 | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 34a | · | 34b | · | 34c | · | 34d | · | 34e | ^ | 35 | ^ | 36a | · | 36b | ^ | 37 | ^ | 38a | · | 38b | · | 38c | ^ | 39 | ^ | 40a | · | 40b | · | 40c | · | 40d | · | 40e | ^ | 41 | ^ | 42a | · | 42b | ^ | 43 | ^ | 44a | · | 44b | · | 44c |
|---|
|
| SP1: | | | | | | | | | | | | | - | | | | - | | | | | | | | - | | | | | | | | | | - | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for SMARCA2
|
Expression
for SMARCA2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| SMARCA2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGTAAAAAA
About this image
See SMARCA2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SMARCA2
SOURCE GeneReport for Unigene cluster: Hs.298990
SABiosciences Expression via Pathway-Focused PCR Arrays including SMARCA2: | Polycomb & Trithorax Complexes in human mouse rat | | Epigenetic Chromatin Remodeling Factors in human mouse rat |
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SMARCA2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SMARCA2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SMARCA2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SMARCA2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMARCA2 |
Orthologs
for SMARCA2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for SMARCA2 gene from 9/31 species (see all 31) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
SMARCA21 |
SWI/SNF related, matrix associated, actin dependent more |
80.56(n)
93.04(a) |
|
396040 NM_205139.1 NP_990470.1 |
lizard
(Anolis carolinensis) |
Reptilia |
SMARCA26 |
-- |
88(a) |
1 ↔ 1 |
2(50844313-50902259) |
tropical clawed frog
(Xenopus tropicalis) |
Amphibia |
Str.104292 |
Transcribed sequence with moderate similarity to protein more |
78.83(n) |
|
BX685877.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
wufi27f112 |
Danio rerio, Similar to SWI/SNF related, matrix associated, more |
75.54(n) |
|
BC060676.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
brm3 |
positive regulation of transcription by
homeotic more |
60(a) |
|
3 72C1 -- |
worm
(Caenorhabditis elegans) |
Secernentea |
C52B9.83 |
helicase |
47(a) |
|
X(4333379-4338468) -- |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
SNF2(YOR290C)4
STH11 |
Catalytic subunit of the SWI/SNF chromatin remodeling more4
Sth1p1 |
52.72(n)1
48.83(a)1 |
|
15(860258-855147)4
8546801 NP_012140.11 8544654
NP_014933.14 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT5G193106ATCHR126(see all 4) |
Homeotic gene regulator(see all 4) |
39(a)38(a)(see all 4) |
many ↔ manymany ↔ many(see all 4) |
5(6498779-6503432) 3(1802228-1807478) |
rice
(Oryza sativa) |
Liliopsida |
---- |
expressed proteinSNF2 family N-terminal domain containing protein, ... |
36(a)14(a) |
many ↔ manymany ↔ many |
5(2548568-2559147) 2(748704-759273) |
ENSEMBL Gene Tree for SMARCA2 (if available)
TreeFam Gene Tree for SMARCA2 (if available) |
Paralogs
for SMARCA2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for SMARCA2 gene
- SMARCA42
5 SIMAP similar genes for SMARCA2 using alignment to 13 protein entries: SMCA2_HUMAN (see all proteins):SMARCA4 PBRM1 BTAF1 HELLS SMARCA1
SMARCA2 for paralogs About GeneDecksing
|
Genomic Variants
for SMARCA2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 9 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for SMARCA2 (2015342 - 2193624 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 6 variations for SMARCA2
6 CNVs: 38738 82867 95804 53551 65307 52769
Human Gene Mutation Database (HGMD): SMARCA2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SMARCA2 |
|
Disorders
/ Diseases
for SMARCA2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SMARCA2 for disorders About GeneDecksing
OMIM gene information: 600014
OMIM disorders: --
UniProtKB/Swiss-Prot: SMCA2_HUMAN, P51531
Defects in SMARCA2 are the cause of Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]. A rare disordercharacterized 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 thefeatures are progressive with time
20/32  diseases for SMARCA2 (see all 32): About MalaCardsage related macular degeneration enamel erosion dental caries alpha thalassemia
cylindromatosis intellectual disability synovial sarcoma macular degeneration
cockayne syndrome williams syndrome microphthalmia retinoblastoma
thalassemia skin cancer prostate cancer sarcoma
gingivitis gastric cancer lung carcinoma lung cancer
5 diseases from the University of Copenhagen DISEASES database for SMARCA2:Dental caries Gingivitis Alpha thalassemia Intellectual disability
Cockayne syndrome 6 Novoseek disease relationships for SMARCA2 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| retinoblastoma |
57.5 |
9 |
11279017 (4), 10441072 (1), 11719516 (1), 15240517 (1) (see all 5) |
| tumors |
14.7 |
15 |
17075831 (2), 11719516 (2), 15887247 (2), 16007216 (2) (see all 8) |
| adenocarcinoma |
13.5 |
6 |
15887247 (2), 18006815 (1), 8657132 (1) |
| prostate cancer |
3.04 |
8 |
17075831 (3), 19074882 (2) |
| leukemia |
0 |
2 |
16007216 (1), 11850427 (1) |
| cancer |
0 |
4 |
17075831 (1), 18923443 (1), 14603256 (1) |
Human Genome Epidemiology (HuGE) Navigator: SMARCA2 (5 documents)
Export disorders for SMARCA2 gene to outside databases
|
Publications
for SMARCA2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for SMARCA2 gene, integrated from 9 sources (see all 166):
(articles sorted by number of sources associating them with SMARCA2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- A human homologue of Saccharomyces cerevisiae SNF2/SWI2 and Drosophila brm genes potentiates transcriptional activation by the glucocorticoid receptor. (PubMed id 8223438)1, 2, 9 Muchardt C. and Yaniv M. (1993)
- Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. (PubMed id 22366787)1, 2 Van Houdt J.K.... Vermeesch J.R. (2012)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
- TopBP1 recruits Brg1/Brm to repress E2F1-induced apoptosis, a novel pRb-independent and E2F1-specific control for cell survival. (PubMed id 15075294)1, 2 Liu K.... Lin W.-C. (2004)
- Two human homologues of Saccharomyces cerevisiae SWI2/SNF2 and Drosophila brahma are transcriptional coactivators cooperating with the estrogen receptor and the retinoic acid receptor. (PubMed id 8208605)1, 2 Chiba H.... Kato H. (1994)
- Assignment of HBRM, the human homolog of S. cerevisiae SNF2/SWI2 and Drosophila brm genes, to chromosome region 9p23-p24, by in situ hybridization. (PubMed id 8012116)1, 3 Muchardt C....Mattei M.G. (1994)
- Frequent loss of Brm expression in gastric cancer correlates with histologic features and differentiation state. (PubMed id 18006815)1, 9 Yamamichi N....Iba H. (2007)
- Aberrant expression of SWI/SNF catalytic subunits BRG1/BRM is associated with tumor development and increased invasiveness in prostate cancers. (PubMed id 17075831)1, 9 Sun A....Li B. (2007)
- Roles of Brahma and Brahma/SWI2-related gene 1 in hypoxic induction of the erythropoietin gene. (PubMed id 15347669)1, 9 Wang F....Hankinson O. (2004)
- SW13 cells can transition between two distinct subtypes by switching expression of BRG1 and Brm genes at the post-transcriptional level. (PubMed id 12493776)1, 9 Yamamichi-Nishina M....Iba H. (2003)
|
External Searches for SMARCA2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing SMARCA2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SMARCA2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SMARCA2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| Patent Information for SMARCA2 gene:
Search GeneIP for patents involving SMARCA2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for SMARCA2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for SMARCA2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SMARCA2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SMARCA2 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for SMARCA2 | | OriGene 3'-UTR Clone for SMARCA2 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SMARCA2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SMARCA2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMARCA2 |
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