The protein encoded by this gene is a member of the SWI/SNF family of proteins. 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 protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the trans... See more...

Aliases for SMARCA5 Gene

Aliases for SMARCA5 Gene

  • SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 5 2 3 5
  • HSNF2H 2 3 4
  • SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily A Member 5 3 4
  • SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin A5 3 4
  • Sucrose Nonfermenting Protein 2 Homolog 3 4
  • WCRF135 3 4
  • SNF2H 3 4
  • HISWI 2 3
  • ISWI 2 3
  • Sucrose Nonfermenting-Like 5 3
  • EC 3.6.4.- 4
  • EC 3.6.1 51
  • SMARCA5 5

External Ids for SMARCA5 Gene

Previous GeneCards Identifiers for SMARCA5 Gene

  • GC04P145230
  • GC04P144795
  • GC04P144900
  • GC04P145012
  • GC04P144792
  • GC04P144654
  • GC04P144434
  • GC04P140164

Summaries for SMARCA5 Gene

Entrez Gene Summary for SMARCA5 Gene

  • The protein encoded by this gene is a member of the SWI/SNF family of proteins. 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 protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein. [provided by RefSeq, Jul 2008]

GeneCards Summary for SMARCA5 Gene

SMARCA5 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 5) is a Protein Coding gene. Diseases associated with SMARCA5 include Extraskeletal Ewing Sarcoma and Williams-Beuren Syndrome. Among its related pathways are BRCA1 Pathway and DNA Double Strand Break Response. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and hydrolase activity. An important paralog of this gene is SMARCA1.

UniProtKB/Swiss-Prot Summary for SMARCA5 Gene

  • Helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity. Complexes containing SMARCA5 are capable of forming ordered nucleosome arrays on chromatin; this may require intact histone H4 tails. Also required for replication of pericentric heterochromatin in S-phase specifically in conjunction with BAZ1A. Probably plays a role in repression of polI dependent transcription of the rDNA locus, through the recruitment of the SIN3/HDAC1 corepressor complex to the rDNA promoter. Essential component of the WICH complex, a chromatin remodeling complex that mobilizes nucleosomes and reconfigures irregular chromatin to a regular nucleosomal array structure. The WICH complex regulates the transcription of various genes, has a role in RNA polymerase I and RNA polymerase III transcription, mediates the histone H2AX phosphorylation at 'Tyr-142', and is involved in the maintenance of chromatin structures during DNA replication processes. Essential component of the NoRC (nucleolar remodeling complex) complex, a complex that mediates silencing of a fraction of rDNA by recruiting histone-modifying enzymes and DNA methyltransferases, leading to heterochromatin formation and transcriptional silencing.

Gene Wiki entry for SMARCA5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SMARCA5 Gene

Genomics for SMARCA5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SMARCA5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J143512 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +1.1 1100 4.4 BRCA1 ARHGAP35 CREB1 ZNF629 RFX1 IKZF1 NFKBIZ ZNF692 RCOR2 POLR2A SMARCA5 SMARCA5-AS1 GUSBP5 FREM3
GH04J142695 Enhancer 0.9 ENCODE dbSUPER 11.3 -812.1 -812103 11.4 ZNF629 FOXA1 ZBTB44 TSHZ1 ZNF585B ZSCAN5C OSR2 ZNF580 BCL11A PKNOX1 SMARCA5 INPP4B lnc-FREM3-8 LOC105377457 LOC101927613
GH04J143351 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 3 -156.1 -156145 11.6 SP1 TEAD4 PRDM10 ZNF629 RFX1 FOXA1 DDX20 PRDM1 RELA TCF12 ENSG00000286771 USP38 SMARCA5 GAB1 piR-50443-293
GH04J143230 Enhancer 0.6 FANTOM5 Ensembl 1.7 -282.5 -282500 1.6 JUNB BATF CREM GAB1 USP38 SMARCA5 FREM3 hsa-miR-1273e-055
GH04J143558 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas 0.3 +45.8 45800 1.8 CREB1 GATAD2A CTCF REST LARP7 STAT3 ZNF143 RBFOX2 RXRB RAD21 GUSBP5 ENSG00000251600 FREM3 ENSG00000248924 lnc-FREM3-2 SMARCA5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SMARCA5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SMARCA5

Top Transcription factor binding sites by QIAGEN in the SMARCA5 gene promoter:
  • ATF
  • CREB
  • deltaCREB
  • Egr-2
  • GATA-1
  • IRF-7A
  • NRF-2
  • Sp1
  • STAT5A
  • Tal-1beta

Genomic Locations for SMARCA5 Gene

Genomic Locations for SMARCA5 Gene
chr4:143,513,501-143,557,486
(GRCh38/hg38)
Size:
43,986 bases
Orientation:
Plus strand
chr4:144,434,616-144,478,642
(GRCh37/hg19)
Size:
44,027 bases
Orientation:
Plus strand

Genomic View for SMARCA5 Gene

Genes around SMARCA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMARCA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMARCA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMARCA5 Gene

Proteins for SMARCA5 Gene

  • Protein details for SMARCA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60264-SMCA5_HUMAN
    Recommended name:
    SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5
    Protein Accession:
    O60264

    Protein attributes for SMARCA5 Gene

    Size:
    1052 amino acids
    Molecular mass:
    121905 Da
    Quaternary structure:
    • Catalytic subunit of the four known chromatin-remodeling complexes: CHRAC, RSF, ACF/WCRF, and WICH. Each complex contains subunits which may regulate the specificity or catalytic activity of SMARCA5. ACF/WCRF contains BAZ1A; CHRAC contains BAZ1A, CHRAC1, and POLE3; RSF contains RSF1; WICH contains BAZ1B/WSTF. SMARCA5 is the catalytic subunit of the NoRC chromatin-remodeling complex, which also contains BAZ2A/TIP5. The BAZ2A/TIP5 subunit of NoRC also interacts with DNMT1, DNMT3B and HDAC1, which allows NoRC to actively suppress rDNA transcription by a combination of nucleosome remodeling, histone deacetylation, and DNA methylation. Catalytic subunit of SMARCA5/cohesin/NuRD complexes. Component of the B-WICH complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF, SF3B1, DEK, MYO1C, ERCC6, MYBBP1A and DDX21. Interacts with MYO1C (By similarity). Interacts with BEND3.

    Three dimensional structures from OCA and Proteopedia for SMARCA5 Gene

neXtProt entry for SMARCA5 Gene

Selected DME Specific Peptides for SMARCA5 Gene

O60264:
  • PPKRERK
  • APFHQLR
  • DSDWNPQ
  • DDFDSWF
  • QAMDRAHR
  • IERGEARI
  • DEMGLGKT
  • PGEWDVCVTSYEM
  • QDFQFFP
  • IDEAHRIKNE
  • AGGLGINL
  • NRLLLTGTP
  • QTELFAHF
  • QRRCNTLI
  • NGILADE
  • TGTPLQN
  • HPYLFDG
  • RVLIFSQM
  • KSRTAME
  • DKLLPKL
  • LLNFLLPD
  • KRDFNQFIKANEK
  • MGLGKTL
  • RAHRIGQ
  • LDILEDY
  • ITDEDID
  • LSTRAGGLG

Post-translational modifications for SMARCA5 Gene

  • Ubiquitination at Lys132, Lys160, Lys176, Lys418, Lys430, Lys644, Lys647, Lys724, Lys836, and Lys847
  • Modification sites at PhosphoSitePlus

Other Protein References for SMARCA5 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for SMARCA5 Gene

Gene Families for SMARCA5 Gene

Protein Domains for SMARCA5 Gene

Suggested Antigen Peptide Sequences for SMARCA5 Gene

GenScript: Design optimal peptide antigens:
  • Sucrose nonfermenting protein 2 homolog (SMCA5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60264

UniProtKB/Swiss-Prot:

SMCA5_HUMAN :
  • Belongs to the SNF2/RAD54 helicase family. ISWI subfamily.
Family:
  • Belongs to the SNF2/RAD54 helicase family. ISWI subfamily.
genes like me logo Genes that share domains with SMARCA5: view

Function for SMARCA5 Gene

Molecular function for SMARCA5 Gene

UniProtKB/Swiss-Prot Function:
Helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity. Complexes containing SMARCA5 are capable of forming ordered nucleosome arrays on chromatin; this may require intact histone H4 tails. Also required for replication of pericentric heterochromatin in S-phase specifically in conjunction with BAZ1A. Probably plays a role in repression of polI dependent transcription of the rDNA locus, through the recruitment of the SIN3/HDAC1 corepressor complex to the rDNA promoter. Essential component of the WICH complex, a chromatin remodeling complex that mobilizes nucleosomes and reconfigures irregular chromatin to a regular nucleosomal array structure. The WICH complex regulates the transcription of various genes, has a role in RNA polymerase I and RNA polymerase III transcription, mediates the histone H2AX phosphorylation at 'Tyr-142', and is involved in the maintenance of chromatin structures during DNA replication processes. Essential component of the NoRC (nucleolar remodeling complex) complex, a complex that mediates silencing of a fraction of rDNA by recruiting histone-modifying enzymes and DNA methyltransferases, leading to heterochromatin formation and transcriptional silencing.
GENATLAS Biochemistry:
general transcriptional activator S cerevisiae SWI/SNF related protein,matrix associated,actin-dependent regulator of chromatin,subfamily A,member 5,component of the chromatin remodeling complex,Drosophila ISWI (initiator of SWI) homolog,widely expressed

Enzyme Numbers (IUBMB) for SMARCA5 Gene

Phenotypes From GWAS Catalog for SMARCA5 Gene

Gene Ontology (GO) - Molecular Function for SMARCA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IBA,IDA 12972596
GO:0004386 helicase activity TAS,IEA --
GO:0005515 protein binding IPI 10655480
genes like me logo Genes that share ontologies with SMARCA5: view
genes like me logo Genes that share phenotypes with SMARCA5: view

Animal Models for SMARCA5 Gene

MGI Knock Outs for SMARCA5:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMARCA5

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SMARCA5 Gene

Localization for SMARCA5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMARCA5 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SMARCA5 gene
Compartment Confidence
nucleus 5
mitochondrion 3
cytosol 3
plasma membrane 2
cytoskeleton 2
extracellular 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SMARCA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000793 condensed chromosome IDA 12972596
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IBA,IDA 12972596
GO:0005654 nucleoplasm TAS --
GO:0005677 chromatin silencing complex IEA --
genes like me logo Genes that share ontologies with SMARCA5: view

Pathways & Interactions for SMARCA5 Gene

genes like me logo Genes that share pathways with SMARCA5: view

Pathways by source for SMARCA5 Gene

4 Qiagen pathways for SMARCA5 Gene
  • AMPK Enzyme Complex Pathway
  • BRCA1 Pathway
  • Chromatin Remodeling
  • Glucocorticoid Receptor Signaling
2 Cell Signaling Technology pathways for SMARCA5 Gene

Gene Ontology (GO) - Biological Process for SMARCA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000183 chromatin silencing at rDNA IEA --
GO:0006325 chromatin organization IEA --
GO:0006333 chromatin assembly or disassembly IEA --
GO:0006334 nucleosome assembly IDA 12972596
GO:0006338 chromatin remodeling TAS,IDA 9836642
genes like me logo Genes that share ontologies with SMARCA5: view

No data available for SIGNOR curated interactions for SMARCA5 Gene

Drugs & Compounds for SMARCA5 Gene

(2) Drugs for SMARCA5 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
4-Deoxy-Alpha-D-Glucose Experimental Pharma Target 0
Beta-D-Glucose Experimental Pharma Target 0
genes like me logo Genes that share compounds with SMARCA5: view

Transcripts for SMARCA5 Gene

mRNA/cDNA for SMARCA5 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMARCA5

Alternative Splicing Database (ASD) splice patterns (SP) for SMARCA5 Gene

No ASD Table

Relevant External Links for SMARCA5 Gene

GeneLoc Exon Structure for
SMARCA5

Expression for SMARCA5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SMARCA5 Gene

Protein differential expression in normal tissues from HIPED for SMARCA5 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (17.7) and Lymph node (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SMARCA5 Gene



Protein tissue co-expression partners for SMARCA5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SMARCA5

SOURCE GeneReport for Unigene cluster for SMARCA5 Gene:

Hs.558422

mRNA Expression by UniProt/SwissProt for SMARCA5 Gene:

O60264-SMCA5_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for SMARCA5 Gene

  • Nervous system(4.9)
  • Liver(4.9)
  • Lung(4.7)
  • Pancreas(4.7)
  • Intestine(4.7)
  • Skin(4.6)
  • Blood(4.2)
  • Kidney(4.2)
  • Eye(4.2)
  • Stomach(4.1)
  • Thyroid gland(4)
  • Muscle(3.5)
  • Heart(3.4)
  • Spleen(2.9)
genes like me logo Genes that share expression patterns with SMARCA5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SMARCA5 Gene

Orthologs for SMARCA5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SMARCA5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SMARCA5 30 31
  • 99.59 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SMARCA5 31
  • 99 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SMARCA5 31
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SMARCA5 30 31
  • 94.33 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SMARCA5 30 31
  • 92.59 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Smarca5 30 17 31
  • 91.84 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Smarca5 30
  • 91.46 (n)
Chicken
(Gallus gallus)
Aves SMARCA5 30 31
  • 84.53 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SMARCA5 31
  • 93 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia smarca5 30
  • 80.37 (n)
Str.5889 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.8812 30
Zebrafish
(Danio rerio)
Actinopterygii smarca5 30 31
  • 75.41 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Iswi 31 32
  • 71 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea isw-1 31
  • 62 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ISW1 30
  • 57.01 (n)
ISW2 31
  • 45 (a)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F06710g 30
  • 55.65 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFL040W 30
  • 53.94 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons CHR11 30
  • 59.06 (n)
Soybean
(Glycine max)
eudicotyledons Gma.10074 30
Rice
(Oryza sativa)
Liliopsida Os01g0367900 30
  • 60.3 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.12926 30
Wheat
(Triticum aestivum)
Liliopsida Ta.3492 30
Corn
(Zea mays)
Liliopsida Zm.10239 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6886 31
  • 72 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU03875 30
  • 54.17 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1499 30
Species where no ortholog for SMARCA5 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • 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)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for SMARCA5 Gene

ENSEMBL:
Gene Tree for SMARCA5 (if available)
TreeFam:
Gene Tree for SMARCA5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SMARCA5: view image

Paralogs for SMARCA5 Gene

(19) SIMAP similar genes for SMARCA5 Gene using alignment to 3 proteins:

  • SMCA5_HUMAN
  • Q4W5G3_HUMAN
  • Q4W5H1_HUMAN

Pseudogenes.org Pseudogenes for SMARCA5 Gene

genes like me logo Genes that share paralogs with SMARCA5: view

Variants for SMARCA5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SMARCA5 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
728189 Likely Benign: not provided 143,514,077(+) T/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
740035 Benign: not provided 143,514,002(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
773457 Benign: not provided 143,521,452(+) C/T SYNONYMOUS_VARIANT
rs1560814874 Likely Pathogenic: Short stature 143,528,006(+) A/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SMARCA5 Gene

Structural Variations from Database of Genomic Variants (DGV) for SMARCA5 Gene

Variant ID Type Subtype PubMed ID
esv2759288 CNV gain+loss 17122850
nsv830103 CNV loss 17160897
nsv964101 CNV duplication 23825009

Variation tolerance for SMARCA5 Gene

Residual Variation Intolerance Score: 4.43% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.36; 7.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SMARCA5 Gene

Human Gene Mutation Database (HGMD)
SMARCA5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMARCA5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMARCA5 Gene

Disorders for SMARCA5 Gene

MalaCards: The human disease database

(14) MalaCards diseases for SMARCA5 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
extraskeletal ewing sarcoma
  • extraosseous ewing sarcoma
williams-beuren syndrome
  • wbs
cockayne syndrome
  • cs
bone epithelioid hemangioma
  • bone hemangioma
alpha thalassemia-x-linked intellectual disability syndrome
  • alpha-thalassemia/mental retardation syndrome, nondeletion type
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with SMARCA5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SMARCA5 Gene

Publications for SMARCA5 Gene

  1. Cloning and mapping of SMARCA5 encoding hSNF2H, a novel human homologue of Drosophila ISWI. (PMID: 9730600) Aihara T … Nakamura Y (Cytogenetics and cell genetics 1998) 2 3 4 23
  2. The WSTF-SNF2h chromatin remodeling complex interacts with several nuclear proteins in transcription. (PMID: 16603771) Cavellán E … Farrants AK (The Journal of biological chemistry 2006) 3 4 23
  3. The Williams syndrome transcription factor interacts with PCNA to target chromatin remodelling by ISWI to replication foci. (PMID: 15543136) Poot RA … Varga-Weisz PD (Nature cell biology 2004) 3 4 23
  4. An ACF1-ISWI chromatin-remodeling complex is required for DNA replication through heterochromatin. (PMID: 12434153) Collins N … Varga-Weisz PD (Nature genetics 2002) 3 4 23
  5. A chromatin remodelling complex that loads cohesin onto human chromosomes. (PMID: 12198550) Hakimi MA … Shiekhattar R (Nature 2002) 3 4 23

Products for SMARCA5 Gene

  • Signalway Proteins for SMARCA5

Sources for SMARCA5 Gene