SMARCA5 (SNF2 related chromatin remodeling ATPase 5)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8467
Gene name Gene Name - the full gene name approved by the HGNC.
SNF2 related chromatin remodeling ATPase 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SMARCA5
Synonyms (NCBI Gene) Gene synonyms aliases
ISWI, SNF2H, WCRF135, hISWI, hSNF2H
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q31.21
Summary Summary of gene provided in NCBI Entrez 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. T
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs1560814874 A>C Likely-pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(851)
miRTarBase ID miRNA Experiments Reference
MIRT042457 hsa-miR-424-5p CLASH 23622248
MIRT036868 hsa-miR-877-3p CLASH 23622248
MIRT054067 hsa-miR-99a-5p Western blot 22525276
MIRT054068 hsa-miR-100-5p Western blot 22525276
MIRT054068 hsa-miR-100-5p qRT-PCR, Western blot 23778488
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(86)
GO ID Ontology Definition Evidence Reference
GO:0000183 Process RDNA heterochromatin formation IEA
GO:0000183 Process RDNA heterochromatin formation ISO
GO:0000785 Component Chromatin IBA
GO:0000793 Component Condensed chromosome IDA 12972596
GO:0001650 Component Fibrillar center IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603375 11101 ENSG00000153147
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O60264
Protein name SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 (SMARCA5) (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin A5) (EC 3.6.4.-) (Sucrose nonfermenting protein 2 homolog) (hSNF2H)
Protein function ATPase that possesses intrinsic ATP-dependent nucleosome-remodeling activity (PubMed:12972596, PubMed:28801535). Catalytic subunit of ISWI chromatin-remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to
PDB 6NE3 , 8V4Y , 8V6V , 8V7L , 9E1L , 9E1M , 9E1N , 9E1O , 9E1P , 9E1Q , 9E1R , 9E1U , 9E1V , 9E1W , 9E1X
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13892 DBINO 63 → 113 DNA-binding domain Domain
PF00176 SNF2_N 177 → 463 SNF2 family N-terminal domain Family
PF00271 Helicase_C 483 → 597 Helicase conserved C-terminal domain Family
PF09110 HAND 743 → 841 HAND Domain
PF09111 SLIDE 898 → 1012 SLIDE Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed.
Sequence 
MSSAAEPPPPPPPESAPSKPAASIASGGSNSSNKGGPEGVAAQAVASAASAGPADAEMEE
IFDDASPGKQKEIQEPDPTYEEKMQTDRANRFEYLLKQTELFAHFIQPAAQKTPTSPLKM
KPGRPRIKKDEKQNLLSVGDYRHRRTEQEEDEELLTESSKATNVCTRFEDSPSYVKWGKL
RDYQVRGLNWLISLYENGINGILADEMGLGKTLQTISLLGYMKHYRNIPGPHMVLVPKST
LHNWMSEFKRWVPTLRSVCLIGDKEQRAAFVRDVLLPGEWDVCVTSYEMLIKEKSVFKKF
NWRYLVIDEAHRIKNEKSKLSEIVREFKTTNRLLLTGTPLQNNLHELWSLLNFLLPDVFN
SADDFDSWFDTNNCLGDQKLVERLHMVLRPFLLRRIKADVEKSLPPKKEVKIYVGLSKMQ
REWYTRILMKDIDILNSAGKMDKMRLLNILMQLRKCCNHPYLFDGAEPGPPYTTDMHLVT
NSGKMVVLDKLLPKLKEQGSRVLIFSQMTRVLDILEDYCMWRNYEYCRLDGQTPHDERQD
SINAYNEPNSTKFVFMLSTRAGGLGINLATADVVILYDSDWNPQVDLQAMDRAHRIGQTK
TVRVFRFITDNTVEERIVERAEMKLRLDSIVIQQGRLVDQNLNKIGKDEMLQMIRHGATH
VFASKESEITDEDIDGILERGAKKTAEMNEKLSKMGESSLRNFTMDTESSVYNFEGEDYR
EKQKIAFTEWIEPPKRERKANYAVDAYFREALRVSEPKAPKAPRPPKQPNVQDFQFFPPR
LFELLEKEILFYRKTIGYKVPRNPELPNAAQAQKEEQLKIDEAESLNDEELEEKEKLLTQ
GFTNWNKRDFNQFIKANEKWGRDDIENIAREVEGKTPEEVIEYSAVFWERCNELQDIEKI
MAQIERGEARIQRRISIKKALDTKIGRYKAPFHQLRISYGTNKGKNYTEEEDRFLICMLH
KLGFDKENVYDELRQCIRNSPQFRFDWFLKSRTAMELQRRCNTLITLIERENMELEEKEK
AEKKKRGPKPSTQKRKMDGAPDGRGRKKKLKL
Sequence length 1052
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  ATP-dependent chromatin remodeling   B-WICH complex positively regulates rRNA expression
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Deposition of new CENPA-containing nucleosomes at the centromere
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Neurodevelopmental Disorders complex neurodevelopmental disorder N/A N/A GenCC
Schizophrenia Schizophrenia N/A N/A GWAS
Show/Hide Text Mining Associations (23)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 26125848
Breast Neoplasms Associate 25377162
Breast Neoplasms Inhibit 32838810
Carcinoma Non Small Cell Lung Associate 31944395, 38057344
Cell Transformation Neoplastic Associate 32945237
Cholangiocarcinoma Associate 31880360
Cholangiocarcinoma Inhibit 36727735
Colorectal Neoplasms Associate 37587156
DNA Virus Infections Associate 37898641
Glioblastoma Associate 29415469, 32945237