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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SMC6
structural maintenance of chromosomes 6
Chromosome 2 · 2p24.2
NCBI Gene: 79677Ensembl: ENSG00000163029.17HGNC: HGNC:20466UniProt: A0A2S1ZR87
88PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHomologous Recombination
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA secondary structure bindingubiquitin protein ligase bindingtelomere maintenance via recombinationDNA damage responseneurodegenerative diseasehypothyroidismalcohol drinkinghyperlipidemia
✦AI Summary

SMC6 is a core component of the SMC5-SMC6 complex, a multifunctional protein machine essential for genome stability. Mechanistically, SMC6 functions in three distinct processes: (1) DNA repair through homologous recombination at double-strand breaks, where it recruits the cohesin complex and prevents accumulation of unscheduled recombination intermediates 1; (2) telomere maintenance via recombination in alternative lengthening of telomeres cells through SUMO-mediated modifications of shelterin components 2; and (3) transcriptional silencing of extrachromosomal DNA, including viral genomes, through a three-step process involving ATPase-dependent DNA entrapment, PML body recruitment, and Nse2-dependent silencing 3. SMC6 recognizes transcription-induced positive DNA supercoils as a mechanism to distinguish episomal from chr2 DNA 4. Disease relevance is substantial: SMC6 mutations appear in cancer genomes, with noncoding mutations near its regulatory regions potentially serving as drivers 5. The complex is synthetically lethal with APOBEC3A activity, as SMC6-depleted cells accumulate genotoxic damage during replication stress 6. Clinically, hepatitis B virus targets SMC6 for degradation to enable viral transcription, identifying SMC6 as a host restriction factor 7, while therapeutic stabilization of SMC6 could inhibit both HBV replication and APOBEC3A-driven mutagenesis in cancer.

Sources cited
1
SMC5-SMC6 is involved in sister chromatid recombination and prevents accumulation of unscheduled recombination intermediates
PMID: 19308705
2
SMC5-SMC6 complex recruitment into DNA repair foci, chromatin association, and SUMO ligase activity regulation
PMID: 30600397
3
SMC5/6 transcriptional silencing of episomal DNA occurs through three-step process: DNA entrapment, PML body recruitment via SLF2, and Nse2-dependent silencing
PMID: 36097294
4
SMC5/6 preferentially binds to circular extrachromosomal DNA and recognizes transcription-generated positive DNA supercoils
PMID: 39242537
5
SMC6 noncoding regulatory mutations identified as possible cancer drivers in genome-wide somatic mutation analysis
PMID: 35389777
6
SMC5/6 complex is essential for cell viability under APOBEC3A genotoxic stress and prevents replication fork instability
PMID: 38886582
7
Hepatitis B virus HBx protein targets SMC5/6 for degradation to enable extrachromosomal viral DNA transcription, establishing SMC5/6 as host restriction factor
PMID: 26983541
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.32Weak
hypothyroidismOpen Targets
0.28Weak
alcohol drinkingOpen Targets
0.27Weak
hyperlipidemiaOpen Targets
0.24Weak
metabolic diseaseOpen Targets
0.23Weak
benign prostatic hyperplasiaOpen Targets
0.15Weak
hereditary neoplastic syndromeOpen Targets
0.15Weak
Inherited cancer-predisposing syndromeOpen Targets
0.15Weak
stomach diseaseOpen Targets
0.14Weak
laterality defects, autosomal dominantOpen Targets
0.11Weak
sign or symptomOpen Targets
0.06Suggestive
infectionOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.04Suggestive
Myasthenia gravisOpen Targets
0.03Suggestive
diabetes mellitus, permanent neonatal 4Open Targets
0.03Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
neutropenia, severe congenital, 1, autosomal dominantOpen Targets
0.03Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.03Suggestive
permanent neonatal diabetes mellitus 1Open Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PJA1Protein interaction100%NCAPGProtein interaction100%TOP3AProtein interaction100%RAD51Protein interaction99%RAD52Protein interaction98%FANCMProtein interaction96%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
80%
Heart
64%
Ovary
48%
Lung
48%
Brain
35%
Gene Interaction Network
Click a node to explore
SMC6PJA1NCAPGTOP3ARAD51RAD52FANCM
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q96SB8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.71LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.56 [0.45–0.71]
RankingsWhere SMC6 stands among ~20K protein-coding genes
  • #5,443of 20,598
    Most Researched88
  • #5,408of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedSMC6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genome-wide analysis of somatic noncoding mutation patterns in cancer.
PMID: 35389777
Science · 2022
1.00
2
Recruitment, loading, and activation of the Smc5-Smc6 SUMO ligase.
PMID: 30600397
Curr Genet · 2019
0.90
3
Smc5/6 silences episomal transcription by a three-step function.
PMID: 36097294
Nat Struct Mol Biol · 2022
0.80
4
The unnamed complex: what do we know about Smc5-Smc6?
PMID: 19308705
Chromosome Res · 2009
0.70
5
Human Smc5/6 recognises transcription-generated positive DNA supercoils.
PMID: 39242537
Nat Commun · 2024
0.60