SMC5

Chr 9AR

structural maintenance of chromosomes 5

Also known as: ATELS2, SMC5L1

Enables DNA secondary structure binding activity. Involved in several processes, including DNA recombination; negative regulation by host of viral genome replication; and positive regulation of cell cycle process. Located in cell junction; chromosome; and nuclear body. Part of Smc5-Smc6 complex. Is active in nucleus. Implicated in mosaic variegated aneuploidy syndrome. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Atelis syndrome 2MIM #620185
AR
0
Active trials
49
Pubs (1 yr)
P/LP submissions
P/LP missense
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

gnomad: Error: Service overloaded

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SMC5 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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