Gene Gene information from NCBI Gene database.
Entrez ID 5982
Gene name Replication factor C subunit 2
Gene symbol RFC2
Synonyms (NCBI Gene)
RFC40
Chromosome 7
Chromosome location 7q11.23
Summary This gene encodes a member of the activator 1 small subunits family. The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins, proliferating cell nuclear antigen (PCNA) and replication factor
miRNA miRNA information provided by mirtarbase database.
286
miRTarBase ID miRNA Experiments Reference
MIRT023820 hsa-miR-1-3p Proteomics 18668040
MIRT048154 hsa-miR-196a-5p CLASH 23622248
MIRT045679 hsa-miR-149-5p CLASH 23622248
MIRT629588 hsa-miR-4999-3p HITS-CLIP 19536157
MIRT629587 hsa-miR-767-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003677 Function DNA binding IEA
GO:0003689 Function DNA clamp loader activity IBA
GO:0003689 Function DNA clamp loader activity IDA 12930902
GO:0005515 Function Protein binding IPI 9488738, 15655353, 18499658, 32296183, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600404 9970 ENSG00000049541
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P35250
Protein name Replication factor C subunit 2 (Activator 1 40 kDa subunit) (A1 40 kDa subunit) (Activator 1 subunit 2) (Replication factor C 40 kDa subunit) (RF-C 40 kDa subunit) (RFC40)
Protein function Subunit of the replication factor C (RFC) complex which acts during elongation of primed DNA templates by DNA polymerases delta and epsilon, and is necessary for ATP-dependent loading of proliferating cell nuclear antigen (PCNA) onto primed DNA
PDB 6VVO , 7Z6H , 8UI7 , 8UI8 , 8UI9 , 8UII , 8UMT , 8UMU , 8UMV , 8UMW , 8UMY , 8UN0 , 8UNJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00004 AAA 72 193 ATPase family associated with various cellular activities (AAA) Domain
PF08542 Rep_fac_C 258 343 Replication factor C C-terminal domain Domain
Sequence
MEVEAVCGGAGEVEAQDSDPAPAFSKAPGSAGHYELPWVEKYRPVKLNEIVGNEDTVSRL
EVFAREGNVPNIIIAGPPGTGKTTSILCLARALLGPALKDAMLELNASNDRGIDVVRNKI
KMFAQQKVTLPKGRHKIIILDEADSMTDGAQQALRRTMEIYSKTTRFALACNASDKIIEP
IQSRCAVLRYTKL
TDAQILTRLMNVIEKERVPYTDDGLEAIIFTAQGDMRQALNNLQSTF
SGFGFINSENVFKVCDEPHPLLVKEMIQHCVNANIDEAYKILAHLWHLGYSPEDIIGNIF
RVCKTFQMAEYLKLEFIKEIGYTHMKIAEGVNSLLQMAGLLAR
LCQKTMAPVAS
Sequence length 354
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  DNA replication
Base excision repair
Nucleotide excision repair
Mismatch repair
  Translesion synthesis by REV1
Recognition of DNA damage by PCNA-containing replication complex
Translesion Synthesis by POLH
Polymerase switching on the C-strand of the telomere
Activation of ATR in response to replication stress
PCNA-Dependent Long Patch Base Excision Repair
Translesion synthesis by POLK
Translesion synthesis by POLI
Termination of translesion DNA synthesis
HDR through Single Strand Annealing (SSA)
HDR through Homologous Recombination (HRR)
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Gap-filling DNA repair synthesis and ligation in GG-NER
Dual Incision in GG-NER
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
Regulation of TP53 Activity through Phosphorylation
Polymerase switching
G2/M DNA damage checkpoint
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
16
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs41548312 RCV005927485
Cervical cancer Benign rs41548312 RCV005927488
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs41548312 RCV005927498
Clear cell carcinoma of kidney Benign rs41548312 RCV005927489
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Stimulate 34022962
Choriocarcinoma Stimulate 15846072
Colorectal Neoplasms Associate 30658502, 37821801
Diabetes Mellitus Type 2 Associate 31797865
DNA Virus Infections Associate 23112151
Esophageal Squamous Cell Carcinoma Associate 31845510
Fanconi Anemia Associate 34404366
Gestational Trophoblastic Disease Stimulate 15846072
Glioblastoma Associate 15494095
Glioma Associate 35210438