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GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SMC4
structural maintenance of chromosomes 4
Chromosome 3 · 3q25.33
NCBI Gene: 10051Ensembl: ENSG00000113810.16HGNC: HGNC:14013UniProt: B3KXX5
202PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitotic chromosome condensationpositive regulation of chromosome condensationprotein bindingcytosolclonal hematopoiesistype 2 diabetes mellitusJeune syndromediabetes mellitus
✦AI Summary

SMC4 (structural maintenance of chr3 4) is a central ATP-binding component of the condensin complex essential for mitotic chromosome 3 and genomic stability 1. Beyond its canonical role in introducing positive supercoils into DNA and facilitating sister chr3 segregation, SMC4 has emerged as a multifunctional oncogenic regulator with significant clinical implications. Mechanistically, SMC4 promotes tumorigenesis through multiple pathways. In prostate cancer, SMC4 interacts with GLUT1 to activate the Rheb/mTOR pathway, enhancing glycolysis and cell proliferation 2. In colorectal cancer, SMC4 acts as a co-activator of PGAM1 transcription while promoting lactate-mediated ABC transporter expression, conferring chemotherapy resistance 3. In hepatocellular carcinoma, the USP39/SMC4 axis regulates 5-FU resistance potentially through TIAL1 and ZNF207 interactions 4. Notably, in triple-negative breast cancer, SMC4 suppresses cGAS-STING-mediated interferon signaling while upregulating PD-L1, driving immune evasion 5. Clinically, elevated SMC4 expression correlates with poor prognosis across multiple cancers including sarcoma, gastric, breast, liver, ovarian, and colon adenocarcinoma 67. SMC4 also associates with clonal hematopoiesis and altered hematopoietic stem cell self-renewal 8. These findings establish SMC4 as a potential prognostic biomarker and therapeutic target for cancer treatment.

Sources cited
1
SMC4 attenuation switches colorectal cancer cells to diapause-like state through lactate-mediated chemotherapy resistance and PGAM1 co-activation
PMID: 37543034
2
SMC4 promotes prostate cancer proliferation and metastasis via Rheb/mTOR pathway through interaction with GLUT1
PMID: 40278414
3
SMC4 is a member of ATPase family with roles in chromosome condensation, DNA repair, transcription, and immune regulation; high expression predicts worse survival
PMID: 37007153
4
Elevated SMC4 in multiple cancers correlates with worse prognosis and positive association with immune cell infiltrates in sarcoma
PMID: 36719264
5
SMC4 depletion inhibits colon adenocarcinoma proliferation and migration through EMT suppression and autophagy induction; associated with immune infiltration patterns
PMID: 39423024
6
USP39/SMC4 axis promotes hepatocellular carcinoma proliferation and 5-FU resistance through potential interactions with TIAL1 and ZNF207
PMID: 40087331
7
SMC4 germline variants associate with clonal hematopoiesis without leukemogenic mutations through altered hematopoietic stem cell self-renewal
PMID: 41102182
8
SMC4 drives triple-negative breast cancer immune evasion by suppressing cGAS-STING interferon signaling and upregulating PD-L1
PMID: 40976049
Disease Associationsⓘ20
clonal hematopoiesisOpen Targets
0.34Weak
type 2 diabetes mellitusOpen Targets
0.23Weak
Jeune syndromeOpen Targets
0.18Weak
diabetes mellitusOpen Targets
0.16Weak
HypercholesterolemiaOpen Targets
0.16Weak
kidney failureOpen Targets
0.15Weak
bone marrow failure syndromeOpen Targets
0.15Weak
agingOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
rheumatoid arthritisOpen Targets
0.11Weak
gliomaOpen Targets
0.10Weak
systemic sclerodermaOpen Targets
0.10Weak
systemic lupus erythematosusOpen Targets
0.10Suggestive
neurodegenerative diseaseOpen Targets
0.09Suggestive
myositisOpen Targets
0.09Suggestive
pit and fissure surface dental cariesOpen Targets
0.09Suggestive
sarcomaOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.08Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
POU3F3Protein interaction100%RFC1Protein interaction100%KIF14Protein interaction100%MCM7Protein interaction100%MCM3Protein interaction100%PDS5AProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
22%
Lung
20%
Heart
16%
Liver
9%
Ovary
8%
Gene Interaction Network
Click a node to explore
SMC4POU3F3RFC1KIF14MCM7MCM3PDS5A
PROTEIN STRUCTURE
Preparing viewer…
PDB4U4P · 1.89 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.78LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.63 [0.52–0.78]
RankingsWhere SMC4 stands among ~20K protein-coding genes
  • #2,088of 20,598
    Most Researched202 · top quartile
  • #6,303of 17,882
    Most Constrained (LOEUF)0.78
Genes detectedSMC4
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
The diapause-like colorectal cancer cells induced by SMC4 attenuation are characterized by low proliferation and chemotherapy insensitivity.
PMID: 37543034
Cell Metab · 2023
1.00
2
SMC4 Promotes Prostate Cancer Cell Proliferation and Metastasis via the Rheb/mTOR Pathway.
PMID: 40278414
Adv Sci (Weinh) · 2025
0.90
3
SMC4, a novel tumor prognostic marker and potential tumor therapeutic target.
PMID: 37007153
Front Oncol · 2023
0.80
4
Germline predisposition to clonal hematopoiesis.
PMID: 37421681
Leuk Res · 2023
0.76
5
The Genetic Determinants and Genomic Consequences of Non-Leukemogenic Somatic Point Mutations.
PMID: 39228737
medRxiv · 2024
0.72