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Aliases for SMARCA4 Gene

Aliases for SMARCA4 Gene

  • SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4 2 3 5
  • Mitotic Growth And Transcription Activator 2 3 4
  • ATP-Dependent Helicase SMARCA4 2 3 4
  • Global Transcription Activator Homologous Sequence 2 3
  • Sucrose Nonfermenting-Like 4 2 3
  • BRG1-Associated Factor 190A 3 4
  • Protein Brahma Homolog 1 3 4
  • BRM/SWI2-Related Gene 1 2 3
  • Homeotic Gene Regulator 2 3
  • Brahma Protein-Like 1 2 3
  • Nuclear Protein GRB1 2 3
  • Protein BRG-1 3 4
  • SNF2-Like 4 2 3
  • SNF2-Beta 3 4
  • BAF190A 3 4
  • SNF2L4 3 4
  • BRG1 3 4
  • SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily A Member 4 4
  • EC 3.6.4.- 4
  • EC 3.6.1 63
  • SNF2LB 3
  • BAF190 3
  • HSNF2b 3
  • MRD16 3
  • RTPS2 3
  • SNF2B 4
  • SWI2 3
  • SNF2 3

External Ids for SMARCA4 Gene

Previous HGNC Symbols for SMARCA4 Gene

  • SNF2L4

Previous GeneCards Identifiers for SMARCA4 Gene

  • GC19P011203
  • GC19P010916
  • GC19P011071
  • GC19P010649

Summaries for SMARCA4 Gene

Entrez Gene Summary for SMARCA4 Gene

  • The protein encoded by this gene is a member of the SWI/SNF family of proteins and is 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. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

GeneCards Summary for SMARCA4 Gene

SMARCA4 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4) is a Protein Coding gene. Diseases associated with SMARCA4 include mental retardation, autosomal dominant 16 and rhabdoid tumor predisposition syndrome 2. Among its related pathways are Signaling by GPCR and Regulation of retinoblastoma protein. GO annotations related to this gene include chromatin binding and transcription coactivator activity. An important paralog of this gene is SMARCA2.

UniProtKB/Swiss-Prot for SMARCA4 Gene

  • Transcriptional coactivator cooperating with nuclear hormone receptors to potentiate transcriptional activation. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP. 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 post-mitotic 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 post-mitotic 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. SMARCA4/BAF190A may promote neural stem cell self-renewal/proliferation by enhancing Notch-dependent proliferative signals, while concurrently making the neural stem cell insensitive to SHH-dependent differentiating cues (By similarity). Acts as a corepressor of ZEB1 to regulate E-cadherin transcription and is required for induction of epithelial-mesenchymal transition (EMT) by ZEB1.

Tocris Summary for SMARCA4 Gene

Gene Wiki entry for SMARCA4 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMARCA4 Gene

Genomics for SMARCA4 Gene

Regulatory Elements for SMARCA4 Gene

Promoters for SMARCA4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SMARCA4 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the SMARCA4 gene promoter:

Genomic Location for SMARCA4 Gene

Chromosome:
19
Start:
10,960,922 bp from pter
End:
11,065,395 bp from pter
Size:
104,474 bases
Orientation:
Plus strand

Genomic View for SMARCA4 Gene

Genes around SMARCA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMARCA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMARCA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMARCA4 Gene

Proteins for SMARCA4 Gene

  • Protein details for SMARCA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51532-SMCA4_HUMAN
    Recommended name:
    Transcription activator BRG1
    Protein Accession:
    P51532
    Secondary Accessions:
    • B1A8Z4
    • B1A8Z5
    • B1A8Z6
    • B1A8Z7
    • E9PBR8
    • O95052
    • Q9HBD3

    Protein attributes for SMARCA4 Gene

    Size:
    1647 amino acids
    Molecular mass:
    184646 Da
    Quaternary structure:
    • Component of the CREST-BRG1 complex, at least composed of SMARCA4/BRG1/BAF190A, SS18L1/CREST, HDAC1, RB1 and SP1 (By similarity). Interacts with NR3C1, PGR, SMARD1, TOPBP1 and ZMIM2/ZIMP7. 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, IKFZ1, and one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. Interacts directly with IKFZ1 in the BAF complex. In muscle cells, the BAF complex also contains DPF3. Component of the BAF53 complex, at least composed of BAF53A, RUVBL1, SMARCA4/BRG1/BAF190A, and TRRAP, which preferentially acetylates histone H4 (and H2A) within nucleosomes. Interacts with (via the bromodomain) with TERT; the interaction regulates Wnt-mediated signaling. 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 MYOG (By similarity). Interacts with ZEB1 (via N-terminus).

    Three dimensional structures from OCA and Proteopedia for SMARCA4 Gene

    Alternative splice isoforms for SMARCA4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMARCA4 Gene

Proteomics data for SMARCA4 Gene at MOPED

Post-translational modifications for SMARCA4 Gene

  • Ubiquitination at Lys 399, Lys 405, Lys 437, Lys 626, Lys 997, and Lys 1386
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SMARCA4 (SMARCA4)

Domains & Families for SMARCA4 Gene

Graphical View of Domain Structure for InterPro Entry

P51532

UniProtKB/Swiss-Prot:

SMCA4_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 SMARCA4: view

No data available for Gene Families for SMARCA4 Gene

Function for SMARCA4 Gene

Molecular function for SMARCA4 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional coactivator cooperating with nuclear hormone receptors to potentiate transcriptional activation. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP. 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 post-mitotic 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 post-mitotic 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. SMARCA4/BAF190A may promote neural stem cell self-renewal/proliferation by enhancing Notch-dependent proliferative signals, while concurrently making the neural stem cell insensitive to SHH-dependent differentiating cues (By similarity). Acts as a corepressor of ZEB1 to regulate E-cadherin transcription and is required for induction of epithelial-mesenchymal transition (EMT) by ZEB1.

Enzyme Numbers (IUBMB) for SMARCA4 Gene

Gene Ontology (GO) - Molecular Function for SMARCA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000980 contributes_to RNA polymerase II distal enhancer sequence-specific DNA binding IDA 16217013
GO:0001164 RNA polymerase I CORE element sequence-specific DNA binding IDA 22368283
GO:0002039 p53 binding IPI 11950834
GO:0003714 transcription corepressor activity IDA 18487222
GO:0008134 transcription factor binding IPI 22368283
genes like me logo Genes that share ontologies with SMARCA4: view
genes like me logo Genes that share phenotypes with SMARCA4: view

Human Phenotype Ontology for SMARCA4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SMARCA4 Gene

MGI Knock Outs for SMARCA4:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for SMARCA4 Gene

Localization for SMARCA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMARCA4 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMARCA4 Gene COMPARTMENTS Subcellular localization image for SMARCA4 gene
Compartment Confidence
extracellular 5
nucleus 5

Gene Ontology (GO) - Cellular Components for SMARCA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043234 protein complex IDA 16217013
genes like me logo Genes that share ontologies with SMARCA4: view

Pathways & Interactions for SMARCA4 Gene

genes like me logo Genes that share pathways with SMARCA4: view

SIGNOR curated interactions for SMARCA4 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for SMARCA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003407 neural retina development IEP 18816825
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007286 spermatid development IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with SMARCA4: view

Drugs & Compounds for SMARCA4 Gene

(13) Drugs for SMARCA4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(11) Additional Compounds for SMARCA4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SMARCA4: view

Transcripts for SMARCA4 Gene

Unigene Clusters for SMARCA4 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMARCA4 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c · 8d · 8e ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^
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: - - -

ExUns: 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b · 17c ^ 18a · 18b · 18c ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22a · 22b · 22c ^ 23a · 23b · 23c ^ 24a · 24b ^ 25 ^ 26 ^
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:

ExUns: 27 ^ 28 ^ 29a · 29b · 29c ^ 30 ^ 31 ^ 32a · 32b ^ 33 ^ 34
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:

Relevant External Links for SMARCA4 Gene

GeneLoc Exon Structure for
SMARCA4
ECgene alternative splicing isoforms for
SMARCA4

Expression for SMARCA4 Gene

mRNA expression in normal human tissues for SMARCA4 Gene

Protein differential expression in normal tissues from HIPED for SMARCA4 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (28.7), Fetal Brain (6.8), and CD8 Tcells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for SMARCA4 Gene



SOURCE GeneReport for Unigene cluster for SMARCA4 Gene Hs.327527

mRNA Expression by UniProt/SwissProt for SMARCA4 Gene

P51532-SMCA4_HUMAN
Tissue specificity: Colocalizes with ZEB1 in E-cadherin-negative cells from established lines, and stroma of normal colon as well as in de-differentiated epithelial cells at the invasion front of colorectal carcinomas (at protein level).
genes like me logo Genes that share expression patterns with SMARCA4: view

Protein tissue co-expression partners for SMARCA4 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SMARCA4 Gene

Orthologs for SMARCA4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SMARCA4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SMARCA4 35
  • 92.2 (n)
  • 99 (a)
bta-mir-2882 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMARCA4 35
  • 91.47 (n)
  • 99.13 (a)
SMARCA4 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smarca4 35
  • 89.24 (n)
  • 99.13 (a)
Smarca4 16
Smarca4 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SMARCA4 35
  • 98.96 (n)
  • 99.13 (a)
SMARCA4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smarca4 35
  • 88.78 (n)
  • 99.26 (a)
oppossum
(Monodelphis domestica)
Mammalia SMARCA4 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMARCA4 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves SMARCA4 35
  • 86.03 (n)
  • 95.95 (a)
SMARCA4 36
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.605 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.3445 35
zebrafish
(Danio rerio)
Actinopterygii smarca4 35
smarca4a 35
  • 78.79 (n)
  • 89.92 (a)
smarca4 36
  • 89 (a)
OneToMany
SMARCA4 (1 of 3) 36
  • 89 (a)
OneToMany
SMARCA4 (2 of 3) 36
  • 53 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10019 35
fruit fly
(Drosophila melanogaster)
Insecta brm 37
  • 61 (a)
brm 36
  • 53 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C52B9.8 37
  • 53 (a)
C52B9.8 36
  • 38 (a)
ManyToMany
swsn-4 36
  • 46 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STH1 36
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3531 36
  • 61 (a)
OneToMany
Species with no ortholog for SMARCA4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SMARCA4 Gene

ENSEMBL:
Gene Tree for SMARCA4 (if available)
TreeFam:
Gene Tree for SMARCA4 (if available)

Paralogs for SMARCA4 Gene

Paralogs for SMARCA4 Gene

(8) SIMAP similar genes for SMARCA4 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with SMARCA4: view

Variants for SMARCA4 Gene

Sequence variations from dbSNP and Humsavar for SMARCA4 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1804579 - 10,996,301(+) GTACG(A/T)GGCTA reference, missense
rs1801514 - 11,025,448(-) GTGTT(A/C)ATCAG reference, missense
rs281875226 Mental retardation, autosomal dominant 16 (MRD16) 11,019,661(+) GACGA(C/T)GTACG reference, missense
rs281875227 Mental retardation, autosomal dominant 16 (MRD16) 11,021,761(+) GTCAC(C/T)GCATG reference, missense
rs281875228 Mental retardation, autosomal dominant 16 (MRD16) 11,021,869(+) CCGAG(C/T)TCTGG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SMARCA4 Gene

Variant ID Type Subtype PubMed ID
nsv911050 CNV Loss 21882294
nsv833749 CNV Loss 17160897
nsv7305 OTHER Inversion 18451855
nsv833750 CNV Loss 17160897
nsv470126 CNV Loss 18288195
dgv3728n71 CNV Loss 21882294
nsv833751 CNV Loss 17160897
esv2667341 CNV Deletion 23128226
esv275095 CNV Gain+Loss 21479260

Variation tolerance for SMARCA4 Gene

Residual Variation Intolerance Score: 0.422% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.25; 40.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMARCA4 Gene

HapMap Linkage Disequilibrium report
SMARCA4
Human Gene Mutation Database (HGMD)
SMARCA4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMARCA4 Gene

Disorders for SMARCA4 Gene

MalaCards: The human disease database

(21) MalaCards diseases for SMARCA4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 16
  • coffin-siris syndrome
rhabdoid tumor predisposition syndrome 2
  • rtps2
ovarian small cell carcinoma
  • small cell carcinoma of the ovary
familial rhabdoid tumor
  • rhabdoid tumor predisposition syndrome
coffin-siris syndrome
  • dwarfism-onychodysplasia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SMCA4_HUMAN
  • Mental retardation, autosomal dominant 16 (MRD16) [MIM:614609]: A disease characterized by multiple congenital anomalies and mental retardation. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD16 patients manifest developmental delay, absent or hypoplastic fifth fingernails or toenails, thick eyebrows and long eyelashes, hirsutism. Additional findings include hypotonia, microcephaly, seizures, a Dandy-Walker malformation, and vision and hearing problems. {ECO:0000269 PubMed:22426308}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Rhabdoid tumor predisposition syndrome 2 (RTPS2) [MIM:613325]: A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood. {ECO:0000269 PubMed:20137775}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SMARCA4

Genetic Association Database (GAD)
SMARCA4
Human Genome Epidemiology (HuGE) Navigator
SMARCA4
Tumor Gene Database (TGDB):
SMARCA4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMARCA4
genes like me logo Genes that share disorders with SMARCA4: view

No data available for Genatlas for SMARCA4 Gene

Publications for SMARCA4 Gene

  1. Two human homologues of Saccharomyces cerevisiae SWI2/SNF2 and Drosophila brahma are transcriptional coactivators cooperating with the estrogen receptor and the retinoic acid receptor. (PMID: 8208605) Chiba H. … Kato H. (Nucleic Acids Res. 1994) 2 3 4 67
  2. Human T-lymphotropic virus type 1 transcription and chromatin-remodeling complexes. (PMID: 20164218) Easley R. … Kashanchi F. (J. Virol. 2010) 3 23
  3. A cooperative activation loop among SWI/SNF, gamma-H2AX and H3 acetylation for DNA double-strand break repair. (PMID: 20224553) Lee H.S. … Kwon J. (EMBO J. 2010) 3 23
  4. 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) 3 23
  5. Antagonistic roles for BRM and BRG1 SWI/SNF complexes in differentiation. (PMID: 19144648) Flowers S. … Moran E. (J. Biol. Chem. 2009) 3 23

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