SMARCA5 (SNF2 related chromatin remodeling ATPase 5)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 8467
Gene name SNF2 related chromatin remodeling ATPase 5
Gene symbol SMARCA5
Synonyms (NCBI Gene)
ISWISNF2HWCRF135hISWIhSNF2H
Chromosome 4
Chromosome location 4q31.21
Summary 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.
1
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.
851
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-PCRWestern blot 23778488
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
86
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603375 11101 ENSG00000153147
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (9)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Delayed CNS myelination Pathogenic rs2531511686 RCV002468795
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Failure to thrive Pathogenic rs2531497410 RCV002468794
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay Pathogenic rs2531511686 RCV002468795
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotonia Pathogenic rs2531511686 RCV002468795
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (9)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COMPLEX NEURODEVELOPMENTAL DISORDER — ClinGen, GenCC
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EXTRASKELETAL EWING SARCOMA — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (40)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 10914549
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 26125848 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 28276606
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia, Hemolytic Anemia BEFREE 10914549
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23911928, 25377162
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 25377162 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 32838810 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma Pubtator 31880360 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma Pubtator 36727735 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Cirrhosis Cirrhosis BEFREE 30716279
★★★★★
★☆☆☆☆
Found in Text Mining only