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GeneE
26 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RFC4
replication factor C subunit 4
Chromosome 3 · 3q27.3
NCBI Gene: 5984Ensembl: ENSG00000163918.13HGNC: HGNC:9972UniProt: P35249
226PubMed Papers
21Diseases
0Drugs
11Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHub Gene
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA clamp loader activitypositive regulation of DNA-directed DNA polymerase activityElg1 RFC-like complexDNA-templated DNA replicationMorimoto-Ryu-Malicdan neuromuscular syndromecongenital myopathysensorineural hearing lossSensorineural hearing impairment
✦AI Summary

RFC4 is a core subunit of the replication factor C (RFC) complex essential for DNA replication and repair 1. As part of the RFC complex, RFC4 functions in ATP-dependent loading of proliferating cell nuclear antigen (PCNA) onto primed DNA templates, facilitating DNA polymerase δ and ε processivity during DNA elongation 2. RFC4 likely serves as a scaffold for complex assembly and stability; its C-terminal domain is critical for maintaining RFC complex integrity and function 3. Clinically, RFC4 is amplified in multiple human cancers. In non-small cell lung cancer (NSCLC), RFC4 amplification (>40% of tissues) promotes metastasis and stemness through a positive feedback loop with Notch1 signaling, conferring resistance to DAPT treatment 4. In cervical cancer, RFC4 serves dual roles: as a diagnostic biomarker for high-grade squamous intraepithelial lesions (sensitivity/specificity ~88%/90%) and paradoxically as an independent prognostic indicator of favorable outcomes 56. Similar upregulation occurs in nasopharyngeal carcinoma, oral tongue squamous cell carcinoma, and lung adenocarcinoma, where RFC4 knockdown inhibits proliferation 782. RFC4 deficiency causes multisystemic Mendelian disorder with incoordination, muscle weakness, and hearing impairment due to disrupted RFC complex formation and perturbed DNA replication 3.

Sources cited
1
RFC4 encodes the 37-kDa subunit of replication factor C and is essential for yeast viability; forms tight complex with RFC3
PMID: 8063832
2
Bi-allelic RFC4 variants cause multisystemic disorder with incoordination, muscle weakness, hearing impairment; C-terminal domain critical for RFC complex formation
PMID: 39106866
3
RFC4 amplified in >40% of NSCLC tissues; promotes metastasis and stemness through RFC4/Notch1 feedback loop; confers DAPT resistance
PMID: 33976158
4
RFC4 upregulated during normal-SILs-SCC transition; diagnostic biomarker for HSIL with 88.2% sensitivity and 90.1% specificity; independent prognostic marker for favorable SCC outcomes
PMID: 36352434
5
RFC4 elevated in cervical cancer; high expression associated with better prognosis; correlates with immunostimulatory tumor microenvironment and dendritic cell infiltration
PMID: 40458559
6
RFC4 elevated in nasopharyngeal carcinoma; RFC4 knockdown induces G2/M cell cycle arrest and inhibits proliferation; HOXA10 is downstream target
PMID: 36562948
7
RFC4 upregulated in oral tongue squamous cell carcinoma; associated with TNM stage; RFC4 knockdown restrains proliferation and progression
PMID: 33783864
8
RFC4 overexpressed in lung adenocarcinoma; high expression associated with poor prognosis and lower TIDE score indicating stronger immunotherapy response
PMID: 40612960
Disease Associationsⓘ21
Morimoto-Ryu-Malicdan neuromuscular syndromeOpen Targets
0.53Moderate
congenital myopathyOpen Targets
0.19Weak
congenital myopathy with coresOpen Targets
0.18Weak
Sensorineural hearing impairmentOpen Targets
0.18Weak
sensorineural hearing lossOpen Targets
0.18Weak
diabetes mellitusOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
cancerOpen Targets
0.09Suggestive
lung adenocarcinomaOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
gliomaOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.08Suggestive
acute myeloid leukemiaOpen Targets
0.07Suggestive
esophageal squamous cell carcinomaOpen Targets
0.06Suggestive
colorectal carcinomaOpen Targets
0.06Suggestive
esophageal carcinomaOpen Targets
0.06Suggestive
esophageal cancerOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
lung cancerOpen Targets
0.03Suggestive
Morimoto-Ryu-Malicdan neuromuscular syndromeUniProt
Pathogenic Variants11
NM_002916.5(RFC4):c.996+4dupLikely pathogenic
Morimoto-Ryu-Malicdan neuromuscular syndrome
★☆☆☆2025
NM_002916.5(RFC4):c.866T>G (p.Leu289Arg)Likely pathogenic
Morimoto-Ryu-Malicdan neuromuscular syndrome
★☆☆☆2025→ Residue 289
NM_002916.5(RFC4):c.290+5G>TLikely pathogenic
Morimoto-Ryu-Malicdan neuromuscular syndrome|not provided
★☆☆☆2025
NM_002916.5(RFC4):c.1030G>A (p.Glu344Lys)Pathogenic
Morimoto-Ryu-Malicdan neuromuscular syndrome
★☆☆☆2025→ Residue 344
NM_002916.5(RFC4):c.824_826del (p.Asp275del)Likely pathogenic
Morimoto-Ryu-Malicdan neuromuscular syndrome
★☆☆☆2025→ Residue 275
NM_002916.5(RFC4):c.1065_1089del (p.Met356fs)Likely pathogenic
Morimoto-Ryu-Malicdan neuromuscular syndrome
★☆☆☆2025→ Residue 356
NM_002916.5(RFC4):c.1064_1065del (p.Val355fs)Pathogenic
Morimoto-Ryu-Malicdan neuromuscular syndrome
☆☆☆☆2024→ Residue 355
NM_002916.5(RFC4):c.947_950del (p.Glu316fs)Pathogenic
Morimoto-Ryu-Malicdan neuromuscular syndrome
☆☆☆☆2024→ Residue 316
NM_002916.5(RFC4):c.980_982dup (p.Ile327_Thr328insIle)Pathogenic
Morimoto-Ryu-Malicdan neuromuscular syndrome
☆☆☆☆2024→ Residue 327
NM_002916.5(RFC4):c.784del (p.Ile262fs)Pathogenic
Morimoto-Ryu-Malicdan neuromuscular syndrome
☆☆☆☆2024→ Residue 262
NM_002916.5(RFC4):c.904GCA[1] (p.Ala303del)Pathogenic
Morimoto-Ryu-Malicdan neuromuscular syndrome
☆☆☆☆2024→ Residue 303
View on ClinVar ↗
Related Genes
DNA2Protein interaction100%FEN1Protein interaction100%MSH6Protein interaction100%HUS1Protein interaction100%LIG1Protein interaction100%MLH1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
27%
Ovary
27%
Heart
17%
Liver
16%
Lung
14%
Gene Interaction Network
Click a node to explore
RFC4DNA2FEN1MSH6HUS1LIG1MLH1
PROTEIN STRUCTURE
Preparing viewer…
PDB8UMV · 2.75 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.10LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.82 [0.62–1.10]
RankingsWhere RFC4 stands among ~20K protein-coding genes
  • #1,799of 20,598
    Most Researched226 · top 10%
  • #2,732of 5,498
    Most Pathogenic Variants11
  • #11,173of 17,882
    Most Constrained (LOEUF)1.10
Genes detectedRFC4
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
An RFC4/Notch1 signaling feedback loop promotes NSCLC metastasis and stemness.
PMID: 33976158
Nat Commun · 2021
1.00
2
Sequential gene expression analysis of cervical malignant transformation identifies RFC4 as a novel diagnostic and prognostic biomarker.
PMID: 36352434
BMC Med · 2022
0.90
3
Analysis of the correlation between RFC4 expression and tumor immune microenvironment and prognosis in patients with cervical cancer.
PMID: 40458559
Front Genet · 2025
0.80
4
The upregulated expression of RFC4 and GMPS mediated by DNA copy number alteration is associated with the early diagnosis and immune escape of ESCC based on a bioinformatic analysis.
PMID: 34520390
Aging (Albany NY) · 2021
0.76
5
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder.
PMID: 39106866
Am J Hum Genet · 2024
0.70