SMC2: Structural Maintenance of Chromosomes 2
A core component of the condensin complex essential for chromosome condensation and segregation
Gene Information Card
| Symbol | SMC2 |
|---|---|
| Full Name | Structural maintenance of chromosomes 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q31.1 |
| NCBI Gene ID | 10592 ncbi.nlm.nih.gov/gene/10592 |
| Ensembl ID | ENSG00000136826 |
| UniProt ID | O95347 |
| OMIM ID | 605576 |
| HGNC ID | 11119 |
| Aliases | CAP-E, SMC2L1, hCAP-E, bK267D9.1 |
Description
SMC2 encodes a core subunit of the condensin complex, which is essential for chromosome condensation and segregation during mitosis and meiosis. The protein belongs to the structural maintenance of chromosomes (SMC) family and forms a heterodimer with SMC4. This complex mediates ATP-dependent chromosome compaction and resolution of sister chromatids. SMC2 is also involved in DNA repair and transcriptional regulation. Mutations and altered expression of SMC2 are associated with developmental disorders and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cornelia de Lange syndrome (CdLS) | Loss-of-function mutations in SMC2 disrupt condensin complex assembly, impairing chromosome condensation and leading to developmental abnormalities. | ClinVar, OMIM |
| Colorectal cancer | Overexpression of SMC2 promotes chromosomal instability and tumor progression through defective mitotic condensation. | COSMIC, NCBI PubMed |
| Breast cancer | SMC2 amplification and upregulation correlate with poor prognosis and aneuploidy. | COSMIC, NCBI PubMed |
| Hepatocellular carcinoma | Elevated SMC2 expression drives proliferation and metastasis via condensin-mediated chromatin remodeling. | COSMIC, NCBI PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | High |
| Bone marrow | 12.8 | High |
| Lymph node | 11.5 | High |
| Spleen | 10.9 | High |
| Thymus | 10.3 | High |
| Brain | 4.1 | Low |
| Heart | 3.8 | Low |
| Liver | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 18.7 | Highest expression among cancer cell lines |
| HeLa (cervical carcinoma) | 16.2 | High expression |
| A549 (lung carcinoma) | 14.5 | High expression |
| MCF7 (breast carcinoma) | 12.1 | Moderate expression |
| HEK293 (embryonic kidney) | 9.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare (<0.01%) | Loss of function; truncation of SMC2 protein, associated with CdLS |
| c.567_568del (p.Glu189fs) | Frameshift | Rare | Loss of function; frameshift leading to premature stop, linked to developmental delay |
| c.2101G>A (p.Val701Met) | Missense | 0.02% in cancer cohorts | Gain of function?; observed in colorectal and breast tumors, may alter ATPase activity |
| c.3456T>G (p.Asn1152Lys) | Missense | 0.01% in cancer cohorts | Unknown; found in hepatocellular carcinoma, potential impact on condensin assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg412*, p.Glu189fs) cause truncation or degradation of SMC2, impairing condensin complex formation and chromosome condensation, leading to Cornelia de Lange syndrome.
Gain of Function (GOF)
Missense mutations (e.g., p.Val701Met) may enhance ATPase activity or chromatin binding, promoting chromosomal instability and tumorigenesis in cancers.
Dominant Negative (DN)
Some missense mutations (e.g., p.Asn1152Lys) could produce a defective SMC2 that interferes with wild-type protein function, disrupting condensin complex integrity.
View complete mutation data：
Gene Ontology (GO)
| • condensin complex (GO:0000779) | • ATP binding (GO:0005524) |
| • nucleus (GO:0005634) | • chromosome segregation (GO:0007059) |
| • mitotic chromosome condensation (GO:0007076) | • ATP hydrolysis activity (GO:0016887) |
| • chromosome condensation (GO:0030261) | • replication fork protection (GO:0048478) |
Pathways
• Condensin complex pathway (Reactome: R-HSA-141444)
• Mitotic prophase (Reactome: R-HSA-68875)
• Chromosome maintenance (KEGG: hsa04110)
• Cell cycle (KEGG: hsa04110)
Protein Summary
SMC2 is a 1,197-amino-acid protein (UniProt O95347) that belongs to the SMC family. It contains an N-terminal globular domain, two coiled-coil regions, and a C-terminal ATPase domain. SMC2 dimerizes with SMC4 via hinge domains to form the core of the condensin I and II complexes. The protein undergoes ATP-dependent conformational changes that drive chromosome looping and compaction. Post-translational modifications include phosphorylation by CDK1 during mitosis, which regulates condensin loading onto chromatin. SMC2 is ubiquitously expressed but enriched in highly proliferative tissues.
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