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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SMC5
structural maintenance of chromosomes 5
Chromosome 9 Β· 9q21.12
NCBI Gene: 23137Ensembl: ENSG00000198887.10HGNC: HGNC:20465UniProt: Q8IY18
84PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHomologous Recombination
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
double-strand break repair via nonhomologous end joiningDNA secondary structure bindingpositive regulation of maintenance of mitotic sister chromatid cohesionhost-mediated suppression of viral genome replicationAtelis syndrome 2Abnormality of the skeletal systemgenetic disorderneurodegenerative disease
✦AI Summary

SMC5 is a core component of the SMC5-SMC6 complex, a chr9 maintenance protein essential for genome stability and viral defense. Structurally, SMC5 functions as part of a six-member complex that undergoes ATP-dependent conformational changes to manipulate DNA topology and chr9 architecture 1. Mechanistically, the SMC5/6 complex operates through multiple pathways: it promotes DNA double-strand break repair via homologous recombination, maintains sister chr9 cohesion during mitosis, and supports telomere maintenance in alternative lengthening of telomeres (ALT) cells 1. Uniquely, SMC5/6 acts as an antiviral restriction factor by recognizing and binding transcription-generated positive DNA supercoils on circular extrachromosomal DNA, thereby silencing episomal transcription through an ATPase-dependent mechanism 23. This antiviral function is particularly important against hepatitis B virus (HBV), where the viral HBx protein targets SMC5/6 for proteasomal degradation to relieve transcriptional silencing of the viral cccDNA minichromosome 45. Clinically, biallelic SMC5 mutations cause Atelis Syndrome 2, characterized by microcephaly, growth retardation, cardiac abnormalities, and mosaic variegated hyperploidy due to impaired replication through G-quadruplex structures and loss of sister chr9 cohesion 6.

Sources cited
1
SMC5/6 complex functions in DNA repair, interphase chromatin organization, and has roles distinct from other SMC complexes
PMID: 38375830
2
SMC5/6 recognizes and binds to transcription-generated positive DNA supercoils on circular extrachromosomal DNA as an antiviral mechanism
PMID: 39242537
3
SMC5/6 silences episomal DNA transcription through a three-step mechanism involving ATPase activity, recruitment to PML bodies, and Nse2-dependent silencing
PMID: 36097294
4
SMC5/6 functions as a restriction factor blocking extrachromosomal DNA transcription; HBx targets it for degradation to promote HBV gene expression
PMID: 26983541
5
SMC5/6 restricts HBV replication by inhibiting cccDNA transcription; HBx relieves this restriction for productive viral infection
PMID: 39599784
6
Biallelic SMC5 mutations cause Atelis Syndrome 2 with segmented chromosomes, mosaic variegated hyperploidy, and impaired G-quadruplex replication
PMID: 36333305
Disease Associationsβ“˜21
Atelis syndrome 2Open Targets
0.63Moderate
Abnormality of the skeletal systemOpen Targets
0.38Weak
genetic disorderOpen Targets
0.19Weak
neurodegenerative diseaseOpen Targets
0.19Weak
developmental disorder of mental healthOpen Targets
0.18Weak
Abruptio PlacentaeOpen Targets
0.10Suggestive
carotid artery diseaseOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
liver diseaseOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
Mobius syndromeOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.05Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.05Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.05Suggestive
Blackfan-Diamond anemiaOpen Targets
0.05Suggestive
infectionOpen Targets
0.04Suggestive
Rh deficiency syndromeOpen Targets
0.04Suggestive
hemolytic anemia due to erythrocyte adenosine deaminase overproductionOpen Targets
0.04Suggestive
gluthathione peroxidase deficiencyOpen Targets
0.04Suggestive
megaloblastic anemia, folate-responsiveOpen Targets
0.04Suggestive
Atelis syndrome 2UniProt
Pathogenic Variants3
NM_015110.4(SMC5):c.1110GAG[1] (p.Arg372del)Pathogenic
Atelis syndrome 2
β˜†β˜†β˜†β˜†2023β†’ Residue 372
NM_015110.4(SMC5):c.1273C>T (p.Arg425Ter)Pathogenic
Atelis syndrome 2
β˜†β˜†β˜†β˜†2023β†’ Residue 425
NM_015110.4(SMC5):c.2968C>G (p.His990Asp)Pathogenic
Atelis syndrome 2
β˜†β˜†β˜†β˜†2023β†’ Residue 990
View on ClinVar β†—
Related Genes
PDS5AProtein interaction100%NCAPGProtein interaction100%TOP3AProtein interaction100%RMI1Protein interaction100%RAD51Protein interaction99%NIPBLProtein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
88%
Lung
44%
Heart
35%
Liver
33%
Brain
24%
Gene Interaction Network
Click a node to explore
SMC5PDS5ANCAPGTOP3ARMI1RAD51NIPBL
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8IY18
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.72LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.58 [0.47–0.72]
RankingsWhere SMC5 stands among ~20K protein-coding genes
  • #5,699of 20,598
    Most Researched84
  • #4,006of 5,498
    Most Pathogenic Variants3
  • #5,504of 17,882
    Most Constrained (LOEUF)0.72
Genes detectedSMC5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A nucleosome switch primes hepatitis B virus infection.
PMID: 39983728
Cell Β· 2025
1.00
2
Human Smc5/6 recognises transcription-generated positive DNA supercoils.
PMID: 39242537
Nat Commun Β· 2024
0.90
3
Smc5/6 silences episomal transcription by a three-step function.
PMID: 36097294
Nat Struct Mol Biol Β· 2022
0.80
4
SMC5/6-Mediated Transcriptional Regulation of Hepatitis B Virus and Its Therapeutic Potential.
PMID: 39599784
Viruses Β· 2024
0.70
5
Identifying and Characterizing Interplay between Hepatitis B Virus X Protein and Smc5/6.
PMID: 28368357
Viruses Β· 2017
0.60