SMC5
Structural Maintenance of Chromosomes 5
Gene Information Card
| Symbol | SMC5 |
|---|---|
| Full Name | Structural Maintenance of Chromosomes 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q21.12 |
| NCBI Gene ID | 23137 ncbi.nlm.nih.gov/gene/23137 |
| Ensembl ID | ENSG00000136869 |
| UniProt ID | Q8IY18 |
| OMIM ID | 609386 |
| HGNC ID | 20465 |
| Aliases | SMC5L1, SMC5-6, SMC5/6 |
Description
SMC5 encodes a core component of the SMC5/6 complex, which is essential for sister chromatid cohesion, homologous recombination, and DNA double-strand break repair. The protein belongs to the structural maintenance of chromosomes (SMC) family and functions in genome stability maintenance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly | Loss-of-function mutations in SMC5 impair DNA repair and chromosome segregation, leading to reduced brain size. | PMID: 31031012; ClinVar |
| Bone marrow failure syndrome | Biallelic SMC5 variants cause defective hematopoiesis via compromised SMC5/6 complex activity. | PMID: 31031012; OMIM #609386 |
| Cancer (various) | Somatic mutations and altered expression of SMC5 contribute to genomic instability in multiple tumor types. | COSMIC; PMID: 25612975 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | High |
| Bone marrow | 8.7 | Medium |
| Brain | 4.1 | Low |
| Liver | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.3 | High expression |
| HeLa | 9.8 | Moderate expression |
| K562 | 7.1 | Moderate expression |
| HepG2 | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2152C>T (p.Arg718Trp) | Missense | <0.01% | Loss of function; reduced SMC5/6 complex stability |
| c.3472G>A (p.Gly1158Arg) | Missense | <0.01% | Dominant negative effect on DNA repair |
| c.1234delC | Frameshift | <0.01% | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that disrupt SMC5 protein stability or complex assembly, leading to impaired DNA repair and chromosome segregation.
Gain of Function (GOF)
Not reported in SMC5.
Dominant Negative (DN)
p.Gly1158Arg variant interferes with wild-type SMC5 function, compromising SMC5/6 complex activity.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • sister chromatid cohesion (GO:0007062) |
| • double-strand break repair (GO:0006302) | • site of double-strand break (GO:0035861) |
| • SMC5/6 complex (GO:0048478) |
Pathways
• SMC5/6 complex pathway (Reactome: R-HSA-5693568)
• Homologous recombination repair (Reactome: R-HSA-5693571)
• Chromosome maintenance (KEGG: hsa04110)
Protein Summary
SMC5 is a 1,101-amino-acid protein that forms a heterodimer with SMC6. The SMC5/6 complex is involved in DNA repair, sister chromatid cohesion, and telomere maintenance. It contains an ATPase head domain and a hinge domain that mediates dimerization. Mutations in SMC5 are associated with primary microcephaly and bone marrow failure.
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