RFC2 Gene - Replication Factor C Subunit 2
Essential component of the DNA replication and repair machinery
Gene Information Card
| Symbol | RFC2 |
|---|---|
| Full Name | Replication Factor C Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 5982 ncbi.nlm.nih.gov/gene/5982 |
| Ensembl ID | ENSG00000105971 |
| UniProt ID | P35250 |
| OMIM ID | 600404 |
| HGNC ID | 9970 |
| Aliases | RFC40, A1, MGC117274, MGC117275 |
Description
RFC2 encodes the 40 kDa subunit of replication factor C (RFC), a five-subunit clamp loader complex essential for DNA replication and repair. RFC loads proliferating cell nuclear antigen (PCNA) onto DNA, enabling processive DNA synthesis by DNA polymerase delta and epsilon. The RFC2 subunit is critical for complex assembly and ATPase activity. Mutations in RFC2 are associated with Williams-Beuren syndrome (contiguous gene deletion) and have been implicated in cancer susceptibility and genomic instability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Williams-Beuren syndrome | Haploinsufficiency due to heterozygous deletion of 7q11.23 including RFC2 | ClinVar, OMIM |
| Colorectal cancer | Somatic mutations and altered expression may contribute to genomic instability | COSMIC, NCBI |
| Breast cancer | Differential expression and copy number alterations observed | COSMIC |
| Lung cancer | Somatic mutations reported in tumor samples | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 22.3 | High |
| Lymph node | 18.7 | Medium |
| Brain | 15.2 | Medium |
| Liver | 12.1 | Medium |
| Heart | 10.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 25.0 | Cervical cancer cell line |
| HEK293 | 22.5 | Embryonic kidney cell line |
| A549 | 20.1 | Lung cancer cell line |
| MCF7 | 18.3 | Breast cancer cell line |
| HCT116 | 17.9 | Colorectal cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.103C>T (p.Arg35Cys) | Missense | <0.01% | Unknown significance |
| c.287G>A (p.Arg96Gln) | Missense | <0.01% | Unknown significance |
| c.412_413del (p.Glu138fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to cause loss of RFC2 function, impairing PCNA loading and DNA replication.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations in the ATPase domain may act as dominant negative by disrupting complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • DNA replication | • DNA repair |
| • PCNA loading | • ATP binding |
| • ATPase activity | • protein binding |
| • nucleus | • cytoplasm |
Pathways
• DNA replication (KEGG hsa03030)
• Mismatch repair (KEGG hsa03430)
• Nucleotide excision repair (KEGG hsa03420)
• Base excision repair (KEGG hsa03410)
• Fanconi anemia pathway (KEGG hsa03460)
Protein Summary
RFC2 is a 40 kDa subunit of the replication factor C complex. The protein contains an ATP-binding domain and is essential for the ATP-dependent loading of PCNA onto primed DNA templates. RFC2 interacts with other RFC subunits (RFC1, RFC3, RFC4, RFC5) and with PCNA. It is ubiquitously expressed with highest levels in testis and bone marrow. Post-translational modifications include phosphorylation, which may regulate complex activity.
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