SMC6
Structural Maintenance of Chromosomes 6, a key component of the SMC5/6 complex involved in DNA repair and genome stability
Gene Information Card
| Symbol | SMC6 |
|---|---|
| Full Name | Structural Maintenance of Chromosomes 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p24.2 |
| NCBI Gene ID | 79677 ncbi.nlm.nih.gov/gene/79677 |
| Ensembl ID | ENSG00000163029 |
| UniProt ID | Q96SB8 |
| OMIM ID | 609387 |
| HGNC ID | 20468 |
| Aliases | SMC6L1, hSMC6, SMC-6 |
Description
SMC6 encodes a member of the structural maintenance of chromosomes (SMC) protein family. It forms a heterodimeric complex with SMC5, which is essential for DNA double-strand break repair via homologous recombination, maintenance of genome stability, and proper chromosome segregation. The SMC5/6 complex also functions in replication fork protection and telomere maintenance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly | Defective DNA repair due to SMC5/6 complex dysfunction impairs neurodevelopment | OMIM #617253 |
| Bone marrow failure syndrome | SMC6 mutations lead to genomic instability and hematopoietic defects | ClinVar |
| Cancer (various) | SMC6 overexpression or mutation contributes to genomic instability and tumorigenesis | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Bone marrow | 10.8 | Medium |
| Lymph node | 9.5 | Medium |
| Brain | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.5 | Cervical cancer cell line |
| K562 | 11.0 | Leukemia cell line |
| HEK293 | 9.8 | Embryonic kidney cell line |
| HepG2 | 7.2 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function, truncated protein |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function, premature stop codon |
| c.890A>G (p.Glu297Gly) | Missense | 0.01% | Unknown effect, possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) result in truncated, non-functional SMC6 protein, impairing SMC5/6 complex assembly and DNA repair.
Gain of Function (GOF)
No gain-of-function mutations reported in SMC6.
Dominant Negative (DN)
Missense mutations (e.g., p.Glu297Gly) may disrupt heterodimerization with SMC5, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Homologous recombination (Reactome R-HSA-5695940)
• SMC5/6 complex-mediated DNA repair (Reactome R-HSA-5696399)
• Cell cycle checkpoints (Reactome R-HSA-69620)
Protein Summary
SMC6 is a 1091-amino acid protein with an N-terminal globular domain, two coiled-coil regions, and a C-terminal hinge domain. It dimerizes with SMC5 via the hinge domain to form a V-shaped complex. The SMC5/6 complex possesses ATPase activity and is recruited to DNA damage sites to facilitate repair and maintain genome integrity.
Related Services
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