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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
  • Mitotic Growth And Transcription Activator 2 3 4
  • ATP-Dependent Helicase SMARCA4 2 3 4
  • BRG1 3 4 6
  • 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
  • MRD16 3 6
  • RTPS2 3 6
  • SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily A Member 4 4
  • Transcription Activator BRG1 3
  • EC 3.6.4.- 4
  • EC 3.6.1 63
  • BAF190 3
  • SNF2LB 3
  • HSNF2b 3
  • SNF2B 4
  • SNF2 3
  • SWI2 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 rhabdoid tumor predisposition syndrome 2 and mental retardation, autosomal dominant 16. Among its related pathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription and Glucocorticoid receptor regulatory network. GO annotations related to this gene include chromatin binding and transcription corepressor 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.

Gene Wiki entry for SMARCA4 Gene

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

Genomics for SMARCA4 Gene

Regulatory Elements for SMARCA4 Gene

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

Genomic Location for SMARCA4 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys399, Lys405, Lys437, Lys471, Lys626, Lys997, Lys1081, and Lys1386
  • Modification sites at PhosphoSitePlus

Antibody Products

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

Domains for SMARCA4 Gene

Graphical View of Domain Structure for InterPro Entry

P51532

UniProtKB/Swiss-Prot:

SMCA4_HUMAN :
  • P51532
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:0000977 RNA polymerase II regulatory region sequence-specific DNA binding --
GO:0000978 contributes_to RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 16217013
GO:0000980 contributes_to RNA polymerase II distal enhancer sequence-specific DNA binding IDA 16217013
GO:0001105 RNA polymerase II transcription coactivator activity IDA 15774904
GO:0002039 p53 binding IPI 11950834
genes like me logo Genes that share ontologies with SMARCA4: view
genes like me logo Genes that share phenotypes with SMARCA4: view

Animal Models for SMARCA4 Gene

MGI Knock Outs for SMARCA4:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SMARCA4

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting 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
nucleus 5

Gene Ontology (GO) - Cellular Components for SMARCA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 12065415
GO:0000792 heterochromatin IEA --
GO:0005615 extracellular space IDA 22664934
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with SMARCA4: view

Pathways for SMARCA4 Gene

genes like me logo Genes that share pathways with SMARCA4: 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

Gene Ontology (GO) - Biological Process for SMARCA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter TAS 17938176
GO:0000902 cell morphogenesis IEA --
GO:0001570 vasculogenesis IEA --
GO:0001701 in utero embryonic development --
GO:0001832 blastocyst growth IEA --
genes like me logo Genes that share ontologies with SMARCA4: view

Compounds for SMARCA4 Gene

(24) Novoseek inferred chemical compound relationships for SMARCA4 Gene

Compound -log(P) Hits PubMed IDs
tpmp 62.6 1
vancomycin 37.1 8
trypsinogen 32.8 2
androstane 28.8 1
histidine 16.8 2
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

  • Predesigned siRNA for gene silencing in human,mouse,rat for SMARCA4

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for SMARCA4

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with SMARCA4: view

In Situ Assay Products

No data available for 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
chimpanzee
(Pan troglodytes)
Mammalia SMARCA4 35
  • 98.96 (n)
  • 99.13 (a)
SMARCA4 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia bta-mir-2882 36
  • 99 (a)
OneToOne
SMARCA4 35
  • 92.2 (n)
  • 99 (a)
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
oppossum
(Monodelphis domestica)
Mammalia SMARCA4 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMARCA4 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smarca4 35
  • 88.78 (n)
  • 99.26 (a)
chicken
(Gallus gallus)
Aves SMARCA4 35
  • 86.03 (n)
  • 95.95 (a)
SMARCA4 36
  • 100 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.3445 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.605 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10019 35
zebrafish
(Danio rerio)
Actinopterygii smarca4 35
smarca4 36
  • 89 (a)
OneToMany
SMARCA4 (1 of 3) 36
  • 89 (a)
OneToMany
SMARCA4 (2 of 3) 36
  • 53 (a)
OneToMany
smarca4a 35
  • 78.79 (n)
  • 89.92 (a)
fruit fly
(Drosophila melanogaster)
Insecta brm 36
  • 53 (a)
OneToMany
brm 37
  • 61 (a)
worm
(Caenorhabditis elegans)
Secernentea C52B9.8 36
  • 38 (a)
ManyToMany
swsn-4 36
  • 46 (a)
ManyToMany
C52B9.8 37
  • 53 (a)
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

Selected 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 MAF
rs7275 Benign 11,060,163(+) GACGA(C/T)GACAG synonymous-codon, reference
rs7935 Benign 10,994,932(+) TACCA(C/T)GCCAA synonymous-codon, reference
rs9105 Likely benign 11,058,838(+) AAGGA(C/T)GTCAT reference, synonymous-codon
rs12012 -- 11,041,252(-) AGCAG(A/T)GGCCG intron-variant
rs881227 -- 11,043,776(+) TGAGA(C/T)CAGTC intron-variant

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

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

(2) OMIM Diseases for SMARCA4 Gene (603254)

UniProtKB/Swiss-Prot

SMCA4_HUMAN
  • 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.
  • 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.

(4) University of Copenhagen DISEASES for SMARCA4 Gene

(33) Novoseek inferred disease relationships for SMARCA4 Gene

Disease -log(P) Hits PubMed IDs
retinoblastoma 43.3 7
tumors 37 50
cancer 35.9 26
cystic fibrosis 30.4 11
peutz-jeghers syndrome 25 1

Relevant External Links for SMARCA4

Genetic Association Database (GAD)
SMARCA4
Human Genome Epidemiology (HuGE) Navigator
SMARCA4
Tumor Gene Database (TGDB):
SMARCA4
genes like me logo Genes that share disorders with SMARCA4: view

Publications for SMARCA4 Gene

  1. BRG1, a component of the SWI-SNF complex, is mutated in multiple human tumor cell lines. (PMID: 11085541) Wong A.K.C. … Lees E. (Cancer Res. 2000) 3 4 23
  2. BRG1 contains a conserved domain of the SWI2/SNF2 family necessary for normal mitotic growth and transcription. (PMID: 8232556) Khavari P.A. … Crabtree G.R. (Nature 1993) 3 4 23
  3. Structural ramification for acetyl-lysine recognition by the bromodomain of human BRG1 protein, a central ATPase of the SWI/SNF remodeling complex. (PMID: 17582821) Singh M. … Holak T.A. (ChemBioChem 2007) 3 4 23
  4. Solution structure of human Brg1 bromodomain and its specific binding to acetylated histone tails. (PMID: 17274598) Shen W. … Shi Y. (Biochemistry 2007) 3 4 23
  5. Frequent BRG1/SMARCA4-inactivating mutations in human lung cancer cell lines. (PMID: 18386774) Medina P.P. … Sanchez-Cespedes M. (Hum. Mutat. 2008) 3 4 23

Products for SMARCA4 Gene

  • antibodies-online proteins for SMARCA4
  • antibodies-online antibodies for SMARCA4
  • antibodies-online kits for SMARCA4

Sources for SMARCA4 Gene

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