Basic Information

Symbol
RFC2
RNA class
mRNA
Alias
Replication Factor C Subunit 2 RFC40 Replication Factor C (Activator 1) 2, 40kDa Activator 1 Subunit 2 RF-C 40 KDa Subunit A1 40 KDa Subunit A1 Replication Factor C (Activator 1) 2 (40kD) Replication Factor C 40 KDa Subunit Activator 1 40 KDa Subunit Activator 1
Location (GRCh38)
7:74223231-74254458
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
-
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_181471.3
Sequence length
1685.0 nt
GC content
0.5258

Transcripts

ID Sequence Length GC content
NM_001278791.2 NCBI
AAGAGGAGGCGCGAGAAUGGAGGUGGAGGCCGUCUGUGGUGGCGCGGGC… 1787 nt 0.5238
NM_001278792.2 NCBI
AAGAGGAGGCGCGAGAAUGGAGGUGGAGGCCGUCUGUGGUGGCGCGGGC… 1578 nt 0.5222
NM_001278793.2 NCBI
AAGAGGAGGCGCGAGAAUGGAGGUGGAGGCCGUCUGUGGUGGCGCGGGC… 1685 nt 0.5312
NM_002914.5 NCBI
AAGAGGAGGCGCGAGAAUGGAGGUGGAGGCCGUCUGUGGUGGCGCGGGC… 1583 nt 0.5338
NM_181471.3 NCBI
AAGAGGAGGCGCGAGAAUGGAGGUGGAGGCCGUCUGUGGUGGCGCGGGC… 1685 nt 0.5258
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 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]

Forensic Context

No relevant information is available at the moment.