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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SMARCA5
SNF2 related chromatin remodeling ATPase 5
Chromosome 4 Β· 4q31.21
NCBI Gene: 8467Ensembl: ENSG00000153147.7HGNC: HGNC:11101UniProt: O60264
303PubMed Papers
20Diseases
0Drugs
9Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHighly ConstrainedHub Gene
RESEARCH IMPACT
Trending
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ATP-dependent chromatin remodeler activityhistone bindingDNA bindingregulation of DNA replicationFailure to thriveHypotoniaIntellectual disabilitySecondary microcephaly
✦AI Summary

SMARCA5 is an ATP-dependent chr4 remodeling ATPase and catalytic subunit of ISWI chr4-remodeling complexes that regulates nucleosome positioning and DNA accessibility 12. As part of various ISWI complexes (including WICH, RSF, and BAZ-containing complexes), SMARCA5 slides nucleosomes along chr4 to facilitate DNA-templated processes including transcription, replication, and repair 342. SMARCA5 functions are context-dependent: it restricts chr4 accessibility during male meiosis to promote proper chromosome 4 and DNA repair 5, but promotes chr4 accessibility in leukemia cells to activate AKR1B1 transcription, driving metabolic reprogramming and leukemogenesis 6. In cancer contexts, SMARCA5 stability is regulated by the deubiquitinase USP3, which maintains SMARCA5 protein levels to promote DNA damage repair and chemotherapy resistance in prostate cancer 7. SMARCA5 also functions in transcriptional regulation through interactions with CTCF and cohesin complexes at gene regulatory regions 8. Dysregulation of SMARCA5 expression or circular RNA-mediated suppression is associated with drug resistance in multiple cancer types, suggesting SMARCA5 as a therapeutic target 967.

Sources cited
1
SMARCA5 possesses intrinsic ATP-dependent nucleosome-remodeling activity and is the catalytic subunit of ISWI complexes
PMID: 12972596
2
SMARCA5 slides nucleosomes and its activity is regulated by ISWI complex components
PMID: 28801535
3
ISWI complexes facilitate DNA-templated processes including transcription, replication, and repair
PMID: 10880450
4
ISWI complexes facilitate access to DNA during DNA-templated processes
PMID: 12198550
5
SMARCA5 restricts chromatin accessibility during male meiosis to promote proper progression and DNA repair
PMID: 40743397
6
SMARCA5 promotes aberrant chromatin accessibility in leukemia cells and activates AKR1B1 transcription to drive leukemogenesis through metabolic reprogramming
PMID: 38776924
7
USP3 deubiquitinates and stabilizes SMARCA5 to promote DNA damage repair and chemotherapy resistance in prostate cancer
PMID: 39500888
8
SMARCA5 associates with CTCF and cohesin to regulate gene expression including the hematopoiesis regulator SPI1
PMID: 24498324
9
CircSMARCA5 can suppress SMARCA5 protein expression to enhance drug sensitivity in breast cancer
PMID: 32838810
Disease Associationsβ“˜20
Failure to thriveOpen Targets
0.55Moderate
HypotoniaOpen Targets
0.55Moderate
Intellectual disabilityOpen Targets
0.53Moderate
Secondary microcephalyOpen Targets
0.46Moderate
Short statureOpen Targets
0.40Moderate
Neurodevelopmental disorderOpen Targets
0.36Weak
microcephalyOpen Targets
0.34Weak
Global developmental delayOpen Targets
0.34Weak
Delayed CNS myelinationOpen Targets
0.34Weak
flatfootOpen Targets
0.34Weak
Pubertal developmental failure in femalesOpen Targets
0.34Weak
primary thrombocytopeniaOpen Targets
0.31Weak
genetic disorderOpen Targets
0.19Weak
complex neurodevelopmental disorderOpen Targets
0.18Weak
neoplasmOpen Targets
0.10Weak
acute myeloid leukemiaOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
Mobius syndromeOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
cervical cancerOpen Targets
0.08Suggestive
Pathogenic Variants9
NM_003601.4(SMARCA5):c.2677G>A (p.Glu893Lys)Pathogenic
Hypotonia;Pes planus;Delayed CNS myelination;Global developmental delay|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 893
NM_003601.4(SMARCA5):c.1301_1306del (p.Ile434_Leu435del)Pathogenic
Short stature;Failure to thrive;Microcephaly;Pubertal developmental failure in females|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 434
NM_003601.4(SMARCA5):c.1015C>T (p.Pro339Ser)Likely pathogenic
SMARCA5-associated neurodevelopmental disorder
β˜…β˜†β˜†β˜†2025β†’ Residue 339
NM_003601.4(SMARCA5):c.623G>A (p.Gly208Asp)Likely pathogenic
Neurodevelopmental disorder
β˜…β˜†β˜†β˜†2025β†’ Residue 208
NM_003601.4(SMARCA5):c.1015C>G (p.Pro339Ala)Likely pathogenic
SMARCA5-associated neurodevelopmental disorder
β˜…β˜†β˜†β˜†2024β†’ Residue 339
NM_003601.4(SMARCA5):c.855del (p.Ser286fs)Pathogenic
SMARCA5-related disorder
β˜…β˜†β˜†β˜†2024β†’ Residue 286
NM_003601.4(SMARCA5):c.2283+1G>ALikely pathogenic
Neurodevelopmental disorder
β˜…β˜†β˜†β˜†2023
NM_003601.4(SMARCA5):c.934A>G (p.Arg312Gly)Likely pathogenic
Intellectual disability
β˜…β˜†β˜†β˜†2022β†’ Residue 312
NM_003601.4(SMARCA5):c.940A>C (p.Lys314Gln)Likely pathogenic
Short stature
β˜†β˜†β˜†β˜†2001β†’ Residue 314
View on ClinVar β†—
Related Genes
H2AC8Protein interaction100%H2AC20Protein interaction100%H3-3BProtein interaction100%H3C12Protein interaction100%H2AC18Protein interaction100%H2BC21Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
57%
Brain
51%
Ovary
45%
Lung
41%
Liver
23%
Gene Interaction Network
Click a node to explore
SMARCA5H2AC8H2AC20H3-3BH3C12H2AC18H2BC21
PROTEIN STRUCTURE
Preparing viewer…
PDB8V4Y Β· 2.80 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.22Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.10 [0.05–0.22]
RankingsWhere SMARCA5 stands among ~20K protein-coding genes
  • #1,149of 20,598
    Most Researched303 Β· top 10%
  • #2,911of 5,498
    Most Pathogenic Variants9
  • #574of 17,882
    Most Constrained (LOEUF)0.22 Β· top 5%
Genes detectedSMARCA5
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
SMARCA5 reprograms AKR1B1-mediated fructose metabolism to control leukemogenesis.
PMID: 38776924
Dev Cell Β· 2024
1.00
2
USP3 promotes DNA damage response and chemotherapy resistance through stabilizing and deubiquitinating SMARCA5 in prostate cancer.
PMID: 39500888
Cell Death Dis Β· 2024
0.90
3
HIV-1 Vpr orchestrates ciTRAN upregulation through TGF-Ξ² induction.
PMID: 40632811
PLoS Pathog Β· 2025
0.88
4
SMARCA5 restricts chromatin accessibility to promote male meiosis and fertility in mammals.
PMID: 40743397
Proc Natl Acad Sci U S A Β· 2025
0.80
5
CircRNA inhibits DNA damage repair by interacting with host gene.
PMID: 32838810
Mol Cancer Β· 2020
0.70