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Aliases for SMARCA2 Gene

Aliases for SMARCA2 Gene

  • SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2 2 3 5
  • ATP-Dependent Helicase SMARCA2 3 4
  • BRG1-Associated Factor 190B 3 4
  • Protein Brahma Homolog 3 4
  • Brahma Homolog 2 3
  • SNF2-Alpha 3 4
  • BAF190B 3 4
  • SNF2L2 3 4
  • HBRM 3 4
  • BRM 3 4
  • SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily A Member 2 4
  • SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin A2 3
  • Global Transcription Activator Homologous Sequence 3
  • Probable Global Transcription Activator SNF2L2 3
  • Sucrose Nonfermenting 2-Like Protein 2 3
  • SNF2/SWI2-Like Protein 2 3
  • EC 3.6.4.- 4
  • EC 3.6.1 61
  • BAF190 3
  • SNF2LA 3
  • HSNF2a 3
  • NCBRS 3
  • Sth1p 3
  • SNF2A 4
  • SWI2 3
  • SNF2 3

External Ids for SMARCA2 Gene

Previous HGNC Symbols for SMARCA2 Gene

  • SNF2L2

Previous GeneCards Identifiers for SMARCA2 Gene

  • GC09P002169
  • GC09P001996

Summaries for SMARCA2 Gene

Entrez Gene Summary for SMARCA2 Gene

  • The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism. [provided by RefSeq, Jan 2014]

GeneCards Summary for SMARCA2 Gene

SMARCA2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2) is a Protein Coding gene. Diseases associated with SMARCA2 include Nicolaides-Baraitser Syndrome and Schimke Immunoosseous Dysplasia. Among its related pathways are PEDF Induced Signaling and C-MYB transcription factor network. GO annotations related to this gene include nucleic acid binding and transcription regulatory region DNA binding. An important paralog of this gene is SMARCA4.

UniProtKB/Swiss-Prot for SMARCA2 Gene

  • 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).

Tocris Summary for SMARCA2 Gene

  • Bromodomains (BRDs) are epigenetic reader domains that selectively recognize acetylated lysine residues on the tails of histone proteins, and are the only known protein modules that can target acetylated lysine residues.

Gene Wiki entry for SMARCA2 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMARCA2 Gene

Genomics for SMARCA2 Gene

Regulatory Elements for SMARCA2 Gene

Enhancers for SMARCA2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G002241 2.1 VISTA FANTOM5 Ensembl ENCODE 9.7 +261.9 261880 2.6 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CBX5 ZNF263 RNU2-25P SMARCA2 RN7SL592P LOC105375955
GH09G002052 1.1 Ensembl ENCODE 12.4 +74.2 74157 3.4 PKNOX1 TBL1XR1 BMI1 RFX5 CBX5 FOS RELB ETV6 IKZF2 CREM SMARCA2 ENSG00000236199 GC09M002082
GH09G002013 2 FANTOM5 Ensembl ENCODE dbSUPER 4.9 +36.7 36725 7.1 HDGF FOXA2 PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZBTB7B YY1 PUM3 ENSG00000236199 SMARCA2 GC09P002022
GH09G002155 2.1 ENCODE dbSUPER 4.6 +178.3 178269 5.6 WRNIP1 SIN3A ZBTB40 RELB ETV6 IKZF2 ZNF362 ZBTB11 CEBPB TBX21 SMARCA2 GC09M002162 RNU2-25P GC09P002100 GC09P002101 GC09P002102
GH09G002107 0.6 ENCODE 15.4 +128.9 128886 2.7 ZNF316 BHLHE40 MAFG REST EMSY MAFK SMARCA2 ENSG00000236199 GC09P002100 GC09P002101 GC09P002102 GC09M002162 RNU2-25P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SMARCA2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the SMARCA2 gene promoter:

Genomic Location for SMARCA2 Gene

Chromosome:
9
Start:
1,980,290 bp from pter
End:
2,193,624 bp from pter
Size:
213,335 bases
Orientation:
Plus strand

Genomic View for SMARCA2 Gene

Genes around SMARCA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMARCA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMARCA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMARCA2 Gene

Proteins for SMARCA2 Gene

  • Protein details for SMARCA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51531-SMCA2_HUMAN
    Recommended name:
    Probable global transcription activator SNF2L2
    Protein Accession:
    P51531
    Secondary Accessions:
    • B1ALG3
    • B1ALG4
    • D3DRH4
    • D3DRH5

    Protein attributes for SMARCA2 Gene

    Size:
    1590 amino acids
    Molecular mass:
    181279 Da
    Quaternary structure:
    • 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).

    Three dimensional structures from OCA and Proteopedia for SMARCA2 Gene

    Alternative splice isoforms for SMARCA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMARCA2 Gene

Selected DME Specific Peptides for SMARCA2 Gene

P51531:
  • IFDSDWNP
  • DEMGLGKT
  • TGTPLQN
  • ELWALLNF
  • MGLGKTIQ
  • GKFELLDRILPKL
  • FLLSTRA
  • NGILADE
  • RAHRIGQ
  • LHKVLRP
  • DSDWNPH
  • LSTRAGGLG

Post-translational modifications for SMARCA2 Gene

  • Ubiquitination at isoforms=2413 and isoforms=21323
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SMARCA2 (SMARCA2)

Domains & Families for SMARCA2 Gene

Graphical View of Domain Structure for InterPro Entry

P51531

UniProtKB/Swiss-Prot:

SMCA2_HUMAN :
  • Belongs to the SNF2/RAD54 helicase family.
Family:
  • Belongs to the SNF2/RAD54 helicase family.
genes like me logo Genes that share domains with SMARCA2: view

No data available for Gene Families for SMARCA2 Gene

Function for SMARCA2 Gene

Molecular function for SMARCA2 Gene

GENATLAS Biochemistry:
general transcriptional activator S cerevisiae SWI/SNF related protein,matrix associated,actin-dependent regulator of chromatin,subfamily A,member 2,component of the chromatin remodeling complex,Drosophila ISWI (initiator of SWI) homolog
UniProtKB/Swiss-Prot Function:
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).

Enzyme Numbers (IUBMB) for SMARCA2 Gene

Gene Ontology (GO) - Molecular Function for SMARCA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0001105 RNA polymerase II transcription coactivator activity IDA 17984088
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0003713 transcription coactivator activity TAS 8223438
genes like me logo Genes that share ontologies with SMARCA2: view
genes like me logo Genes that share phenotypes with SMARCA2: view

Human Phenotype Ontology for SMARCA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SMARCA2 Gene

MGI Knock Outs for SMARCA2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for SMARCA2 Gene

Localization for SMARCA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMARCA2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SMARCA2 gene
Compartment Confidence
cytoskeleton 5
nucleus 5

Gene Ontology (GO) - Cellular Components for SMARCA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 12065415
GO:0005634 nucleus IDA 17984088
GO:0005654 nucleoplasm TAS --
GO:0016514 SWI/SNF complex IEA,IDA 11078522
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with SMARCA2: view

Pathways & Interactions for SMARCA2 Gene

genes like me logo Genes that share pathways with SMARCA2: view

SIGNOR curated interactions for SMARCA2 Gene

Activates:

Gene Ontology (GO) - Biological Process for SMARCA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter TAS 17938176
GO:0006338 chromatin remodeling IEA,TAS 17938176
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated TAS 8670841
GO:0006357 regulation of transcription from RNA polymerase II promoter TAS 8223438
genes like me logo Genes that share ontologies with SMARCA2: view

Drugs & Compounds for SMARCA2 Gene

(1) Drugs for SMARCA2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SMARCA2: view

Transcripts for SMARCA2 Gene

Unigene Clusters for SMARCA2 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMARCA2 Gene

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: - - - - - - - - - - - - - - - -
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SP19:
SP20:
SP21: - - -
SP22: - -
SP23: -
SP24:
SP25:
SP26:
SP27:
SP28:
SP29: - -
SP30:
SP31:
SP32:
SP33: -

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:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: -
SP14:
SP15:
SP16: - - -
SP17: -
SP18: -
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SP27:
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SP30:
SP31:
SP32:
SP33:

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:
SP6: - - - - - - - - - -
SP7: - - - - - -
SP8: - - - - - -
SP9: - -
SP10: - - - -
SP11: - - -
SP12:
SP13:
SP14:
SP15:
SP16: - - - - - - - - - -
SP17: - - - - - - - - - - -
SP18: - - - - - - - - -
SP19: - - - - - -
SP20: - - - -
SP21:
SP22:
SP23:
SP24:
SP25:
SP26: -
SP27: - - - - - - - - - -
SP28: - -
SP29:
SP30:
SP31: - - -
SP32:
SP33:

Relevant External Links for SMARCA2 Gene

GeneLoc Exon Structure for
SMARCA2
ECgene alternative splicing isoforms for
SMARCA2

Expression for SMARCA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SMARCA2 Gene

Protein differential expression in normal tissues from HIPED for SMARCA2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (19.9), CD8 Tcells (8.7), and Ovary (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SMARCA2 Gene



Protein tissue co-expression partners for SMARCA2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SMARCA2 Gene:

SMARCA2

SOURCE GeneReport for Unigene cluster for SMARCA2 Gene:

Hs.298990

Evidence on tissue expression from TISSUES for SMARCA2 Gene

  • Nervous system(4.8)
  • Liver(4.3)
  • Blood(2.8)
  • Saliva(2.2)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SMARCA2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • scalp
  • skull
  • tooth
Thorax:
  • breast
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • hair
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with SMARCA2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SMARCA2 Gene

Orthologs for SMARCA2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SMARCA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMARCA2 34
  • 98.48 (n)
oppossum
(Monodelphis domestica)
Mammalia SMARCA2 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMARCA2 34 35
  • 91.93 (n)
cow
(Bos Taurus)
Mammalia SMARCA2 35 34
  • 91.44 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Smarca2 16 35 34
  • 89.59 (n)
rat
(Rattus norvegicus)
Mammalia Smarca2 34
  • 89.1 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SMARCA2 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves SMARCA2 34 35
  • 80.05 (n)
lizard
(Anolis carolinensis)
Reptilia SMARCA2 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smarca2 34
  • 76.6 (n)
Str.10429 34
zebrafish
(Danio rerio)
Actinopterygii smarca2 35 34
  • 73.58 (n)
OneToOne
wufi27f11 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010462 34
  • 62.52 (n)
fruit fly
(Drosophila melanogaster)
Insecta brm 36 34 35
  • 61.49 (n)
worm
(Caenorhabditis elegans)
Secernentea swsn-4 34 35
  • 57.37 (n)
C52B9.8 36 35
  • 47 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STH1 34 35 37
  • 53.75 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER375C 34
  • 53.69 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F04521g 34
  • 53.64 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ATCHR12 34
  • 51.75 (n)
rice
(Oryza sativa)
Liliopsida Os05g0144300 34
  • 51.74 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3531 35
  • 60 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes snf21 34
  • 54.24 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06488 34
  • 54.1 (n)
Species where no ortholog for SMARCA2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SMARCA2 Gene

ENSEMBL:
Gene Tree for SMARCA2 (if available)
TreeFam:
Gene Tree for SMARCA2 (if available)

Paralogs for SMARCA2 Gene

Paralogs for SMARCA2 Gene

genes like me logo Genes that share paralogs with SMARCA2: view

Variants for SMARCA2 Gene

Sequence variations from dbSNP and Humsavar for SMARCA2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs281875184 Pathogenic, Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] 2,115,840(+) AAGAC(C/G)GAGCT reference, missense
rs281875185 Pathogenic, Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] 2,086,944(+) GACTG(G/T)GACCC intron-variant, reference, missense
rs281875186 Pathogenic, Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] 2,115,850(+) TCACC(A/G)CATCG reference, missense
rs281875187 Pathogenic, Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358], Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] 2,115,841(+) AGACC(A/G/T)AGCTC reference, missense
rs281875188 Pathogenic, Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] 2,086,950(+) GACCC(C/T)GCTGC intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SMARCA2 Gene

Variant ID Type Subtype PubMed ID
dgv12467n54 CNV loss 21841781
dgv12468n54 CNV loss 21841781
dgv12469n54 CNV loss 21841781
dgv12470n54 CNV loss 21841781
dgv12471n54 CNV loss 21841781
dgv12472n54 CNV loss 21841781
dgv12473n54 CNV loss 21841781
dgv12474n54 CNV loss 21841781
dgv12475n54 CNV loss 21841781
dgv12476n54 CNV loss 21841781
dgv12477n54 CNV loss 21841781
dgv2123e212 CNV loss 25503493
dgv2124e212 CNV loss 25503493
dgv2125e212 CNV loss 25503493
dgv912n27 CNV loss 19166990
esv24291 CNV loss 19812545
esv2657759 CNV deletion 23128226
esv2672241 CNV deletion 23128226
esv2676342 CNV deletion 23128226
esv2678891 CNV deletion 23128226
esv275020 CNV gain+loss 21479260
esv2764173 CNV loss 21179565
esv3544434 CNV deletion 23714750
esv3573074 CNV loss 25503493
esv3619282 CNV loss 21293372
esv3619283 CNV loss 21293372
esv3619284 CNV loss 21293372
esv3619285 CNV loss 21293372
esv3619286 CNV loss 21293372
nsv1020530 CNV gain 25217958
nsv442128 CNV loss 18776908
nsv466070 CNV loss 19166990
nsv466076 CNV loss 19166990
nsv466077 CNV loss 19166990
nsv515132 CNV loss 21397061
nsv516236 CNV loss 19592680
nsv518473 CNV loss 19592680
nsv518986 CNV loss 19592680
nsv613081 CNV loss 21841781
nsv613089 CNV loss 21841781
nsv613090 CNV loss 21841781
nsv613093 CNV loss 21841781
nsv6456 CNV insertion 18451855
nsv824817 CNV gain 20364138
nsv824818 CNV loss 20364138
nsv831493 CNV gain 17160897

Variation tolerance for SMARCA2 Gene

Residual Variation Intolerance Score: 1.21% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.39; 85.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMARCA2 Gene

Human Gene Mutation Database (HGMD)
SMARCA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMARCA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMARCA2 Gene

Disorders for SMARCA2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for SMARCA2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nicolaides-baraitser syndrome
  • ncbrs
schimke immunoosseous dysplasia
  • immunoosseous dysplasia, schimke type
enamel erosion
gingival disease
  • gingival diseases
coffin-siris syndrome
  • dwarfism-onychodysplasia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SMCA2_HUMAN
  • Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]: A 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. {ECO:0000269 PubMed:22366787, ECO:0000269 PubMed:22426308, ECO:0000269 PubMed:23906836}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Schizophrenia (SCZD) [MIM:181500]: A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. {ECO:0000269 PubMed:19363039}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.

Relevant External Links for SMARCA2

Genetic Association Database (GAD)
SMARCA2
Human Genome Epidemiology (HuGE) Navigator
SMARCA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMARCA2
genes like me logo Genes that share disorders with SMARCA2: view

No data available for Genatlas for SMARCA2 Gene

Publications for SMARCA2 Gene

  1. Involvement of SMARCA2/BRM in the SWI/SNF chromatin-remodeling complex in schizophrenia. (PMID: 19363039) Koga M. … Arinami T. (Hum. Mol. Genet. 2009) 3 4 22 64
  2. Association study of the trinucleotide repeat polymorphism within SMARCA2 and schizophrenia. (PMID: 16749937) Sengupta S. … Joober R. (BMC Genet. 2006) 3 22 46 64
  3. A human homologue of Saccharomyces cerevisiae SNF2/SWI2 and Drosophila brm genes potentiates transcriptional activation by the glucocorticoid receptor. (PMID: 8223438) Muchardt C. … Yaniv M. (EMBO J. 1993) 3 4 22 64
  4. Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. (PMID: 22366787) Van Houdt J.K. … Vermeesch J.R. (Nat. Genet. 2012) 3 4 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for SMARCA2 Gene

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