Homo sapiens Gene: RFC2
Summary
InnateDB Gene IDBG-21120.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RFC2
Gene Name replication factor C (activator 1) 2, 40kDa
Synonyms RFC40;
Species Homo sapiens
Ensembl Gene ENSG00000049541
Encoded Proteins
replication factor C (activator 1) 2, 40kDa
replication factor C (activator 1) 2, 40kDa
replication factor C (activator 1) 2, 40kDa
replication factor C (activator 1) 2, 40kDa
replication factor C (activator 1) 2, 40kDa
replication factor C (activator 1) 2, 40kDa
replication factor C (activator 1) 2, 40kDa
replication factor C (activator 1) 2, 40kDa
replication factor C (activator 1) 2, 40kDa
replication factor C (activator 1) 2, 40kDa
replication factor C (activator 1) 2, 40kDa
replication factor C (activator 1) 2, 40kDa
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 C (RFC). RFC, also called activator 1, is a protein complex consisting of five distinct subunits of 145, 40, 38, 37, and 36.5 kD. This gene encodes the 40 kD subunit, which has been shown to be responsible for binding ATP. Deletion of this gene has been associated with Williams syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
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 C (RFC). Replication factor C, also called activator 1, is a protein complex consisting of five distinct subunits. This gene encodes the 40 kD subunit, which has been shown to be responsible for binding ATP and may help promote cell survival. Disruption of this gene is associated with Williams syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene of this gene has been defined on chromosome 2. [provided by RefSeq, Jul 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:74231499-74254458
Strand Reverse strand
Band q11.23
Transcripts
ENST00000055077 ENSP00000055077
ENST00000352131 ENSP00000275627
ENST00000493156 ENSP00000420563
ENST00000485545 ENSP00000419320
ENST00000497430 ENSP00000420404
ENST00000470266 ENSP00000420513
ENST00000494019 ENSP00000419341
ENST00000480432 ENSP00000418899
ENST00000479105 ENSP00000420392
ENST00000491206 ENSP00000420731
ENST00000463194 ENSP00000419827
ENST00000473493
ENST00000621097 ENSP00000479768
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 59 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 59 [view]
Protein-Protein 57 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016851 magnesium chelatase activity
GO:0017111 nucleoside-triphosphatase activity
Biological Process
GO:0000278 mitotic cell cycle
GO:0000722 telomere maintenance via recombination
GO:0000723 telomere maintenance
GO:0006260 DNA replication
GO:0006271 DNA strand elongation involved in DNA replication
GO:0006281 DNA repair
GO:0006283 transcription-coupled nucleotide-excision repair
GO:0006289 nucleotide-excision repair
GO:0006297 nucleotide-excision repair, DNA gap filling
GO:0015979 photosynthesis
GO:0015995 chlorophyll biosynthetic process
GO:0032201 telomere maintenance via semi-conservative replication
Cellular Component
GO:0005654 nucleoplasm
GO:0005663 DNA replication factor C complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
DNA Replication pathway
Repair synthesis for gap-filling by DNA polymerase in TC-NER pathway
Polymerase switching on the C-strand of the telomere pathway
Telomere C-strand (Lagging Strand) Synthesis pathway
Transcription-coupled NER (TC-NER) pathway
Synthesis of DNA pathway
Repair synthesis of patch ~27-30 bases long by DNA polymerase pathway
S Phase pathway
Chromosome Maintenance pathway
Polymerase switching pathway
G2/M Checkpoints pathway
Global Genomic NER (GG-NER) pathway
Telomere Maintenance pathway
Cell Cycle pathway
Activation of ATR in response to replication stress pathway
Cell Cycle, Mitotic pathway
DNA strand elongation pathway
Leading Strand Synthesis pathway
Extension of Telomeres pathway
Lagging Strand Synthesis pathway
Nucleotide Excision Repair pathway
Gap-filling DNA repair synthesis and ligation in GG-NER pathway
Gap-filling DNA repair synthesis and ligation in TC-NER pathway
DNA Repair pathway
Cell Cycle Checkpoints pathway
KEGG
DNA replication pathway
Nucleotide excision repair pathway
Mismatch repair pathway
INOH
PID BIOCARTA
PID NCI
Fanconi anemia pathway
ATR signaling pathway
Cross-References
SwissProt
TrEMBL H7C5S7
UniProt Splice Variant
Entrez Gene 5982
UniGene Hs.647062
RefSeq NM_181471 NM_002914 NM_001278793 NM_001278792 NM_001278791
HUGO HGNC:9970
OMIM 600404
CCDS CCDS5568 CCDS5567 CCDS75618
HPRD 02675
IMGT
EMBL AC005081
GenPept
RNA Seq Atlas 5982