RFC2 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
RFC2
Official Name
replication factor C subunit 2 [Source:HGNC Symbol;Acc:HGNC:9970]
Ensembl ID
ENSG00000049541
Bio databases IDs NCBI: 5982 Ensembl: ENSG00000049541
Aliases replication factor C subunit 2, activator 1
Synonyms 2610008M13Rik, p40, RECC2, replication factor C (activator 1) 2, replication factor C subunit 2, Rfc, RFC40
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RFC2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • single-stranded DNA dependent ATP dependent DNA helicase
  • DNA polymerase III, delta subunit
  • ATP-binding domain
  • ATP binding
  • enzyme binding
  • Replication factor C C-terminal domain
  • enzyme
  • protein binding
  • AAA domain
  • ATPase family associated with various cellular activities (AAA)
  • helical lid domain of clamp loader-like AAA+ proteins
  • DNA clamp loader
  • P-loop containing Nucleoside Triphosphate Hydrolases
  • ATPases associated with a variety of cellular activities

Pathways

Biological processes and signaling networks where the RFC2 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • neoplasia
  • colorectal cancer
  • colon epithelial cancer
  • organismal death
  • colon adenocarcinoma
  • plexiform neurofibroma
  • endometriosis
  • complete testicular feminization syndrome
regulated by
regulates
role in cell
  • expression in
  • production in
  • apoptosis
  • migration
  • quantity
  • cell viability
  • invasion by
  • glycolysis in
  • homologous recombination in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nuclear fraction
  • nucleoplasm
  • nucleoli
  • chromatin
  • replication fork
  • cytosolic fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human RFC2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • DNA repair
  • DNA duplex unwinding
  • positive regulation of DNA-directed DNA polymerase activity
  • DNA-dependent DNA replication

Cellular Component

Where in the cell the gene product is active
  • Ctf18 RFC-like complex
  • nucleus
  • DNA replication factor C complex
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • ATPase activity
  • ATP binding
  • DNA binding
  • DNA clamp loader activity
  • protein binding
  • single-stranded DNA-dependent ATP-dependent DNA helicase activity
  • enzyme binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.