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Aliases for SMARCB1 Gene

Aliases for SMARCB1 Gene

  • SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 144 2 3
  • Sucrose Nonfermenting, Yeast, Homolog-Like 1 2 3
  • Malignant Rhabdoid Tumor Suppressor 2 3
  • Integrase Interactor 1 Protein 3 4
  • BRG1-Associated Factor 47 3 4
  • SNF5 Homolog 3 4
  • SNF5L1 3 4
  • BAF47 3 4
  • HSNF5 3 4
  • INI1 3 4
  • SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily B Member 1 3
  • SWI/SNF-Related Matrix-Associated Protein 3
  • Integrase Interactor 1 2
  • PPP1R144 3
  • SWNTS1 3
  • MRD15 3
  • RTPS1 3
  • Sfh1p 3
  • HSNFS 3
  • CSS3 3
  • SNF5 3
  • Snr1 3
  • RDT 3

External Ids for SMARCB1 Gene

Previous HGNC Symbols for SMARCB1 Gene

  • SNF5L1

Previous GeneCards Identifiers for SMARCB1 Gene

  • GC22P020825
  • GC22P022453
  • GC22P024129
  • GC22P007117

Summaries for SMARCB1 Gene

Entrez Gene Summary for SMARCB1 Gene

  • The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

GeneCards Summary for SMARCB1 Gene

SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) is a Protein Coding gene. Diseases associated with SMARCB1 include Schwannomatosis and Rhabdoid Tumors, Somatic. Among its related pathways are Regulation of retinoblastoma protein and AMPK Enzyme Complex Pathway. GO annotations related to this gene include transcription coactivator activity and RNA polymerase II distal enhancer sequence-specific DNA binding.

UniProtKB/Swiss-Prot for SMARCB1 Gene

  • Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures, termed altosomes, each composed of 2 histones octamers. Stimulates in vitro the remodeling activity of SMARCA4/BRG1/BAF190A. Involved in activation of CSF1 promoter. 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). Plays a key role in cell-cycle control and causes cell cycle arrest in G0/G1.

Gene Wiki entry for SMARCB1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMARCB1 Gene

Genomics for SMARCB1 Gene

Regulatory Elements for SMARCB1 Gene

Enhancers for SMARCB1 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
GH22F023833 0.6 ENCODE 32.9 +50.4 50422 6.9 PKNOX1 ATF1 CREB3L1 SIN3A DMAP1 FEZF1 ZNF2 GLIS2 ZNF143 ZNF207 SMARCB1 MMP11 CHCHD10 ZNF70 SNRPD3 ENSG00000234353 DRICH1 VPREB3 DERL3 ENSG00000273295
GH22F023821 1.4 FANTOM5 ENCODE 32 +38.0 37985 6.1 ZNF263 ZNF362 RFX1 KLF1 ZNF384 ZIC2 OSR2 SMARCA4 POLR2A SCRT2 SMARCB1 MMP11 CHCHD10 VPREB3 ZNF70 C22orf15 ENSG00000234353 DERL3 SLC2A11
GH22F023806 0.7 ENCODE 31.8 +20.2 20192 0.5 PRDM1 SMARCB1 MMP11 CHCHD10 C22orf15 SLC2A11 ENSG00000251357 RN7SL268P MIF GUSBP11 MIF-AS1
GH22F023829 0.2 ENCODE 31.6 +43.2 43244 0.7 RAD51 BHLHE40 TBX21 SMARCB1 CHCHD10 MMP11 DERL3
GH22F023820 0.2 ENCODE 31 +34.1 34132 1.1 NFYB SMARCB1 MMP11 CHCHD10 VPREB3 ZNF70 C22orf15 DERL3
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SMARCB1 on UCSC Golden Path with GeneCards custom track

Promoters for SMARCB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000084687 537 1801 HDGF ATF1 ARID4B SIN3A DMAP1 ZNF2 GLIS2 ELK1 ZNF207 KLF13

Genomic Location for SMARCB1 Gene

Chromosome:
22
Start:
23,786,963 bp from pter
End:
23,834,518 bp from pter
Size:
47,556 bases
Orientation:
Plus strand

Genomic View for SMARCB1 Gene

Genes around SMARCB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMARCB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMARCB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMARCB1 Gene

Proteins for SMARCB1 Gene

  • Protein details for SMARCB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12824-SNF5_HUMAN
    Recommended name:
    SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
    Protein Accession:
    Q12824
    Secondary Accessions:
    • O75784
    • O95474
    • Q17S11
    • Q38GA1
    • Q76N08
    • Q9UBH2

    Protein attributes for SMARCB1 Gene

    Size:
    385 amino acids
    Molecular mass:
    44141 Da
    Quaternary structure:
    • Component of the BAF (hSWI/SNF) 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. Binds to double-stranded DNA. Interacts with MYK and MAEL. Interacts with 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 (By similarity). Binds tightly to the human immunodeficiency virus-type 1 (HIV-1) integrase in vitro and stimulates its DNA-joining activity. Interacts with human papillomavirus 18 E1 protein to stimulate its viral replication. Interacts with Epstein-Barr virus protein EBNA-2. Interacts with CEBPB (when not methylated) (PubMed:20111005). Interacts with PIH1D1 (PubMed:22368283).

    Three dimensional structures from OCA and Proteopedia for SMARCB1 Gene

    Alternative splice isoforms for SMARCB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMARCB1 Gene

Post-translational modifications for SMARCB1 Gene

  • Ubiquitination at Lys 8, Lys 292, and Lys 324
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SMARCB1 (SMARCB1)

No data available for DME Specific Peptides for SMARCB1 Gene

Domains & Families for SMARCB1 Gene

Gene Families for SMARCB1 Gene

Protein Domains for SMARCB1 Gene

Graphical View of Domain Structure for InterPro Entry

Q12824

UniProtKB/Swiss-Prot:

SNF5_HUMAN :
  • The N-terminal DNA-binding region is structurally similar to winged helix domains.
  • Belongs to the SNF5 family.
Domain:
  • The N-terminal DNA-binding region is structurally similar to winged helix domains.
Family:
  • Belongs to the SNF5 family.
genes like me logo Genes that share domains with SMARCB1: view

Function for SMARCB1 Gene

Molecular function for SMARCB1 Gene

GENATLAS Biochemistry:
general transcriptional activator,S cerevisiae SWI/SNF2 related protein,matrix associated,actin-dependent regulator of chromatin,subfamily B,member 1,component of the chromatin remodeling complex,preferentially expressed in muscle and pancreas,mutated in atypical teratoid and rhabdoid tumors,tumor suppressor gene (see TSG22D),frequently deleted in chronic myeloid leukemia
UniProtKB/Swiss-Prot Function:
Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures, termed altosomes, each composed of 2 histones octamers. Stimulates in vitro the remodeling activity of SMARCA4/BRG1/BAF190A. Involved in activation of CSF1 promoter. 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). Plays a key role in cell-cycle control and causes cell cycle arrest in G0/G1.

Gene Ontology (GO) - Molecular Function for SMARCB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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:0001164 RNA polymerase I CORE element sequence-specific DNA binding IMP 22368283
GO:0002039 p53 binding IPI 11950834
GO:0003677 DNA binding IEA,IDA 26073604
genes like me logo Genes that share ontologies with SMARCB1: view
genes like me logo Genes that share phenotypes with SMARCB1: view

Human Phenotype Ontology for SMARCB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SMARCB1 Gene

MGI Knock Outs for SMARCB1:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SMARCB1 Gene

Localization for SMARCB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMARCB1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMARCB1 Gene COMPARTMENTS Subcellular localization image for SMARCB1 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2

Gene Ontology (GO) - Cellular Components for SMARCB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 16217013
GO:0001741 XY body IEA --
GO:0005634 nucleus IDA 11430827
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA 22368283
genes like me logo Genes that share ontologies with SMARCB1: view

Pathways & Interactions for SMARCB1 Gene

genes like me logo Genes that share pathways with SMARCB1: view

Pathways by source for SMARCB1 Gene

SIGNOR curated interactions for SMARCB1 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for SMARCB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001824 blastocyst development IEA --
GO:0001835 blastocyst hatching IEA --
GO:0006281 DNA repair IBA --
GO:0006337 nucleosome disassembly IDA 8895581
GO:0006338 chromatin remodeling IEA,IMP 22368283
genes like me logo Genes that share ontologies with SMARCB1: view

Transcripts for SMARCB1 Gene

Unigene Clusters for SMARCB1 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMARCB1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9
SP1: - - - -
SP2: - - -
SP3: - - -
SP4: -
SP5: -
SP6:
SP7:

Relevant External Links for SMARCB1 Gene

GeneLoc Exon Structure for
SMARCB1
ECgene alternative splicing isoforms for
SMARCB1

Expression for SMARCB1 Gene

mRNA expression in normal human tissues for SMARCB1 Gene

Protein differential expression in normal tissues from HIPED for SMARCB1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (16.1), Liver (9.5), and Testis (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SMARCB1 Gene



Protein tissue co-expression partners for SMARCB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SMARCB1 Gene:

SMARCB1

SOURCE GeneReport for Unigene cluster for SMARCB1 Gene:

Hs.534350
genes like me logo Genes that share expression patterns with SMARCB1: 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 SMARCB1 Gene

Orthologs for SMARCB1 Gene

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

Orthologs for SMARCB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMARCB1 34 35
  • 99.83 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SMARCB1 35
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SMARCB1 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMARCB1 34 35
  • 93.59 (n)
cow
(Bos Taurus)
Mammalia SMARCB1 34 35
  • 92.55 (n)
rat
(Rattus norvegicus)
Mammalia Smarcb1 34
  • 91.4 (n)
mouse
(Mus musculus)
Mammalia Smarcb1 34 16 35
  • 91.26 (n)
chicken
(Gallus gallus)
Aves SMARCB1 35
  • 96 (a)
OneToOne
MMP11 34
  • 84.68 (n)
lizard
(Anolis carolinensis)
Reptilia SMARCB1 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smarcb1 34
  • 79.81 (n)
Str.7159 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.7591 34
zebrafish
(Danio rerio)
Actinopterygii smarcb1b 35
  • 95 (a)
OneToMany
smarcb1a 34 35
  • 83.82 (n)
Dr.16141 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.455 34
fruit fly
(Drosophila melanogaster)
Insecta Snr1 36 34 35
  • 66.21 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001154 34
  • 65.48 (n)
worm
(Caenorhabditis elegans)
Secernentea snfc-5 34 35
  • 54.75 (n)
R07E5.3 36
  • 49 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SNF5 35
  • 11 (a)
OneToOne
SFH1 37
sea squirt
(Ciona savignyi)
Ascidiacea CSA.132 35
  • 68 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9854 34
Species where no ortholog for SMARCB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 SMARCB1 Gene

ENSEMBL:
Gene Tree for SMARCB1 (if available)
TreeFam:
Gene Tree for SMARCB1 (if available)

Paralogs for SMARCB1 Gene

No data available for Paralogs for SMARCB1 Gene

Variants for SMARCB1 Gene

Sequence variations from dbSNP and Humsavar for SMARCB1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs387906812 Coffin-Siris syndrome 3 (CSS3) [MIM:614608], Pathogenic 23,834,152(+) GAGGC(A/G)TCTTG downstream-variant-500B, reference, missense
VAR_076934 Coffin-Siris syndrome 3 (CSS3) [MIM:614608]
VAR_076935 Coffin-Siris syndrome 3 (CSS3) [MIM:614608]
rs121434496 Pathogenic 23,803,338(+) CATCT(C/T)AGCCC reference, stop-gained
rs267607072 Pathogenic 23,787,261(+) CTCCG(A/T)GGTAG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SMARCB1 Gene

Variant ID Type Subtype PubMed ID
dgv4528n100 CNV gain 25217958
dgv4531n100 CNV gain 25217958
dgv8039n54 CNV gain 21841781
esv2724041 CNV deletion 23290073
esv3568301 CNV loss 25503493
esv3575443 CNV gain 25503493
esv3575444 CNV gain 25503493
esv3575445 CNV gain 25503493
esv3893457 CNV gain 25118596
esv3893461 CNV gain 25118596
nsv1062411 CNV gain 25217958
nsv1066891 CNV gain 25217958
nsv1110863 OTHER inversion 24896259
nsv511075 OTHER complex 20534489
nsv526567 CNV gain 19592680
nsv588647 CNV gain 21841781
nsv7350 OTHER inversion 18451855
nsv829103 CNV gain 20364138

Variation tolerance for SMARCB1 Gene

Residual Variation Intolerance Score: 23.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.08; 1.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMARCB1 Gene

Human Gene Mutation Database (HGMD)
SMARCB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMARCB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMARCB1 Gene

Disorders for SMARCB1 Gene

MalaCards: The human disease database

(55) MalaCards diseases for SMARCB1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
schwannomatosis
  • schwannomatosis-1
rhabdoid tumors, somatic
  • rhabdoid predisposition syndrome 1
mental retardation, autosomal dominant 15
  • coffin-siris syndrome 3
rhabdoid cancer
  • rhabdoid tumor predisposition syndrome 2
familial rhabdoid tumor
  • rhabdoid tumor predisposition syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SNF5_HUMAN
  • Coffin-Siris syndrome 3 (CSS3) [MIM:614608]: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. {ECO:0000269 PubMed:22426308, ECO:0000269 PubMed:23906836}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Rhabdoid tumor predisposition syndrome 1 (RTPS1) [MIM:609322]: 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:9671307, ECO:0000269 PubMed:9892189}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Schwannomatosis 1 (SWNTS1) [MIM:162091]: A cancer syndrome in which patients develop multiple non-vestibular schwannomas, benign neoplasms that arise from Schwann cells of the cranial, peripheral, and autonomic nerves. {ECO:0000269 PubMed:17357086, ECO:0000269 PubMed:18072270}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for SMARCB1

Genetic Association Database (GAD)
SMARCB1
Human Genome Epidemiology (HuGE) Navigator
SMARCB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMARCB1
genes like me logo Genes that share disorders with SMARCB1: view

No data available for Genatlas for SMARCB1 Gene

Publications for SMARCB1 Gene

  1. Interaction of E1 and hSNF5 proteins stimulates replication of human papillomavirus DNA. (PMID: 10365963) Lee D. … Choe J. (Nature 1999) 2 3 4 22 64
  2. Binding and stimulation of HIV-1 integrase by a human homolog of yeast transcription factor SNF5. (PMID: 7801128) Kalpana G.V. … Goff S.P. (Science 1994) 2 3 4 22 64
  3. Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor. (PMID: 19902524) Kordes U. … Schneppenheim R. (Genes Chromosomes Cancer 2010) 3 22 46 64
  4. Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. (PMID: 18072270) Sestini R. … Papi L. (Hum. Mutat. 2008) 3 4 22 64
  5. P16INK4a is required for hSNF5 chromatin remodeler-induced cellular senescence in malignant rhabdoid tumor cells. (PMID: 14604992) Oruetxebarria I. … Verrijzer C.P. (J. Biol. Chem. 2004) 3 4 22 64

Products for SMARCB1 Gene

Sources for SMARCB1 Gene

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