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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
  • ATP-Dependent Helicase SMARCA2 3 4
  • BRG1-Associated Factor 190B 3 4
  • Protein Brahma Homolog 3 4
  • 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
  • Sucrose Nonfermenting 2-Like Protein 2 3
  • SNF2/SWI2-Like Protein 2 3
  • EC 3.6.4.- 4
  • EC 3.6.1 63
  • BAF190 3
  • SNF2LA 3
  • HSNF2a 3
  • NCBRS 3
  • Sth1p 3
  • SNF2A 4
  • SNF2 3
  • SWI2 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 intellectual disability - sparse hair - brachydactyly and nicolaides-baraitser syndrome. Among its related pathways are Transcription Ligand-dependent activation of the ESR1/SP pathway and Chromatin organization. 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).

Gene Wiki entry for SMARCA2 Gene

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

Genomics for SMARCA2 Gene

Regulatory Elements for SMARCA2 Gene

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SMARCA2 Gene

Chromosome:
9
Start:
2,015,219 bp from pter
End:
2,193,624 bp from pter
Size:
178,406 bases
Orientation:
Plus strand

Genomic View for SMARCA2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for SMARCA2 Gene at MOPED

Post-translational modifications for SMARCA2 Gene

  • Ubiquitination at Lys 413 and Lys 1323
  • 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 :
  • Contains 1 bromo domain.
  • Belongs to the SNF2/RAD54 helicase family.
Domain:
  • Contains 1 bromo domain.
  • Contains 1 helicase ATP-binding domain.
  • Contains 1 helicase C-terminal domain.
  • Contains 1 HSA domain.
  • Contains 1 QLQ domain.
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:0001105 RNA polymerase II transcription coactivator activity IDA 17984088
GO:0003682 chromatin binding IEA --
GO:0003713 transcription coactivator activity TAS 8223438
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IPI 12065415
genes like me logo Genes that share ontologies with SMARCA2: view
genes like me logo Genes that share phenotypes with SMARCA2: view

Animal Models for SMARCA2 Gene

MGI Knock Outs for SMARCA2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SMARCA2

In Situ Assay 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
Jensen Localization Image for SMARCA2 Gene COMPARTMENTS Subcellular localization image for SMARCA2 gene
Compartment Confidence
nucleus 5
cytoskeleton 4

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 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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Epigenetic Chromatin Remodeling Factors in human,mouse,rat
    • Polycomb & Trithorax Complexes in human,mouse,rat

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:0006325 chromatin organization TAS --
GO:0006338 chromatin remodeling TAS 17938176
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated TAS 8670841
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
estrogen Pharma 0
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

  • Predesigned siRNA for gene silencing in human,mouse,rat for SMARCA2

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: - - - - - - - - - - - - - - - -
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: -

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: -
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:
SP28:
SP29:
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 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, MOPED, and MaxQB for SMARCA2 Gene



SOURCE GeneReport for Unigene cluster for SMARCA2 Gene Hs.298990

genes like me logo Genes that share expression patterns with SMARCA2: view

Protein tissue co-expression partners for SMARCA2 Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia SMARCA2 35
  • 91.44 (n)
  • 98.2 (a)
SMARCA2 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMARCA2 35
  • 91.93 (n)
  • 98.67 (a)
SMARCA2 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smarca2 35
  • 89.59 (n)
  • 97.26 (a)
Smarca2 16
Smarca2 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SMARCA2 35
  • 98.48 (n)
  • 98.86 (a)
rat
(Rattus norvegicus)
Mammalia Smarca2 35
  • 89.1 (n)
  • 96.1 (a)
oppossum
(Monodelphis domestica)
Mammalia SMARCA2 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMARCA2 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves SMARCA2 35
  • 80.05 (n)
  • 92.15 (a)
SMARCA2 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMARCA2 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smarca2 35
  • 76.6 (n)
  • 88.14 (a)
Str.10429 35
zebrafish
(Danio rerio)
Actinopterygii smarca2 35
  • 73.58 (n)
  • 83.49 (a)
wufi27f11 35
smarca2 36
  • 82 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta brm 37
  • 60 (a)
brm 35
  • 61.49 (n)
  • 64.54 (a)
brm 36
  • 51 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010462 35
  • 62.52 (n)
  • 66.2 (a)
worm
(Caenorhabditis elegans)
Secernentea C52B9.8 37
  • 47 (a)
swsn-4 35
  • 57.37 (n)
  • 58 (a)
C52B9.8 36
  • 37 (a)
ManyToMany
swsn-4 36
  • 45 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER375C 35
  • 53.69 (n)
  • 51.27 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F04521g 35
  • 53.64 (n)
  • 52.16 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STH1 35
  • 53.75 (n)
  • 51.58 (a)
STH1 36
  • 34 (a)
OneToMany
SNF2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons ATCHR12 35
  • 51.75 (n)
  • 47.94 (a)
rice
(Oryza sativa)
Liliopsida Os05g0144300 35
  • 51.74 (n)
  • 47.71 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06488 35
  • 54.1 (n)
  • 52.34 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes snf21 35
  • 54.24 (n)
  • 51.88 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3531 36
  • 60 (a)
OneToMany
Species with no ortholog for SMARCA2:
  • 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 MAF
rs6601 Likely benign, Likely benign 2,116,037(+) CATGA(A/G/T)GAGGA synonymous-codon, reference
rs10137 -- 2,116,029(+) TCTTG(G/T)AGCAT reference, stop-gained
rs734031 -- 2,169,898(+) CTTGG(A/G)AGCAG intron-variant
rs1061478 -- 2,193,455(+) CTCCT(A/G)TGTTA utr-variant-3-prime
rs1109952 -- 2,109,522(+) GCAAA(C/G)CACCC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv831493 CNV Gain 17160897
nsv892047 CNV Gain 21882294
nsv892048 CNV Gain 21882294
nsv892052 CNV Gain 21882294
dgv912n27 CNV Loss 19166990
nsv466070 CNV Loss 19166990
nsv892053 CNV Loss 21882294
nsv892054 CNV Loss 21882294
nsv466076 CNV Loss 19166990
nsv518473 CNV Loss 19592680
nsv892055 CNV Gain 21882294
nsv824817 CNV Gain 20364138
nsv516236 CNV Loss 19592680
dgv8009n71 CNV Gain 21882294
nsv466077 CNV Loss 19166990
esv2676342 CNV Deletion 23128226
nsv824818 CNV Loss 20364138
esv2678891 CNV Deletion 23128226
esv24291 CNV Loss 19812545
nsv515132 CNV Loss 21397061
nsv442128 CNV CNV 18776908
esv2657759 CNV Deletion 23128226
nsv6456 CNV Insertion 18451855
nsv892058 CNV Gain 21882294
esv275020 CNV Gain+Loss 21479260
nsv518986 CNV Loss 19592680
esv2672241 CNV Deletion 23128226

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

HapMap Linkage Disequilibrium report
SMARCA2
Human Gene Mutation Database (HGMD)
SMARCA2

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

Disorders for SMARCA2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
intellectual disability - sparse hair - brachydactyly
  • nicolaides-baraitser syndrome
nicolaides-baraitser syndrome
  • ncbrs
gingival disease
  • gingiva disorder
enamel erosion
tooth erosion
  • localized erosion
- elite association

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}. 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. Osa, a subunit of the BAP chromatin-remodelling complex, participates in the regulation of gene expression in response to EGFR signalling in the Drosophila wing. (PMID: 19306864) Terriente-FAclix A. … de Celis J.F. (Dev. Biol. 2009) 23 67
  2. The SWI/SNF chromatin remodeling complex regulates myocardin-induced smooth muscle-specific gene expression. (PMID: 19342595) Zhou J. … Herring B.P. (Arterioscler. Thromb. Vasc. Biol. 2009) 23 67
  3. Involvement of SMARCA2/BRM in the SWI/SNF chromatin-remodeling complex in schizophrenia. (PMID: 19363039) Koga M. … Arinami T. (Hum. Mol. Genet. 2009) 23 67
  4. HIC1 interacts with a specific subunit of SWI/SNF complexes, ARID1A/BAF250A. (PMID: 19486893) Van Rechem C. … Leprince D. (Biochem. Biophys. Res. Commun. 2009) 23 67
  5. Opposing effects of SWI/SNF and Mi-2/NuRD chromatin remodeling complexes on epigenetic reprogramming by EBF and Pax5. (PMID: 19549820) Gao H. … Hagman J. (Proc. Natl. Acad. Sci. U.S.A. 2009) 23 67

Products for SMARCA2 Gene

Sources for SMARCA2 Gene

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