RFC2 - replication factor C subunit 2 Gene

Also Known as RFC40

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5982

About RFC2

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:74,231,502-74,254,399 (from NCBI)

This gene has 13 transcripts (splice variants), 214 orthologues, 3 paralogues and is associated with 1 phenotype. Ubiquitous expression in lymph node (RPKM 10.0), placenta (RPKM 8.8) and 25 other tissues.

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]

RFC2 Products (5)

mRNA	Protein	Name
NM_001278791.2	NP_001265720.1	replication factor C subunit 2 isoform 3
NM_001278792.2	NP_001265721.1	replication factor C subunit 2 isoform 4
NM_001278793.2	NP_001265722.1	replication factor C subunit 2 isoform 5
NM_002914.5	NP_002905.2	replication factor C subunit 2 isoform 2
NM_181471.3	NP_852136.1	replication factor C subunit 2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to DNA clamp loader activity	IDA IDA: Inferred from direct assay	12930902	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9488738	GOA
contributes to single-stranded DNA helicase activity	IDA IDA: Inferred from direct assay	12930902	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA-templated DNA replication	IDA IDA: Inferred from direct assay	9488738	GOA
involved in positive regulation of DNA-directed DNA polymerase activity	IDA IDA: Inferred from direct assay	12930902	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of Ctf18 RFC-like complex	IDA IDA: Inferred from direct assay	12930902	GOA
part of DNA replication factor C complex	IDA IDA: Inferred from direct assay	9488738	GOA
part of DNA replication factor C complex	IPI IPI: Inferred from physical interaction	9488738	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RFC2 Protein Structure

AAA

Rep_fac_C

0
100
200
300
354 a.a.

Protein Preferred Names	Protein Names
replication factor C subunit 2	A1 40 kDa subunit

RFC2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RFC2	P35250	PRKAR1A	Homo sapiens	P10644	Pull Down	15655353
Intra	RFC2	P35250	PRKAR1A	Homo sapiens	P10644	CoIP	15655353
Intra	RFC2	P35250	RFC1	Homo sapiens	P35251	CoIP	15655353
Intra	RFC2	P35250	RFC4	Homo sapiens	P35249	Solution Sedimentation	9488738

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Williams-Beuren Syndrome	Williams Syndrome WBS Wms Deletion 7q11.23 Monosomy 7q11.23 Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb Fanconi Schlesinger Syndrome Beuren Syndrome Elfin Facies Syndrome Elfin Facies With Hypercalcemia Hypercalcemia-Supravalvar Aortic Stenosis Ws
Seckel Syndrome 2	SCKL2 Seckel-Type Dwarfism 2 Microcephalic Primordial Dwarfism 2 Bird-Headed Dwarfism 2 Seckel Syndrome, Type 2
Supravalvular Aortic Stenosis	SVAS Supravalvar Aortic Stenosis Supravalvar Aortic Stenosis, Eisenberg Type Aortic Supravalvular Stenosis Aortic Stenosis, Supravalvular Supra-Valvular Aortic Stenosis Stenosis, Aortic Supravalvular Stenosis, Supravalvular Aortic Supravalvular Stenosis, Aortic Aortic Stenosis Supravalvular
Miller-Dieker Lissencephaly Syndrome	Miller-Dieker Syndrome Mds MDLS Miller Dieker Syndrome Classical Lissencephaly Syndrome Lissencephaly Due To 17p13.3 Deletion Monosomy 17p13.3 Telomeric Deletion 17p Classical Lissencephaly
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11866	RFC2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	RFC2	VGNC	VGNC:45493
Rattus norvegicus	RFC2	RGD	RGD:621198
Bos taurus	RFC2	VGNC	VGNC:33886
Mus musculus	RFC2	MGD	MGI:1341868
Felis catus	RFC2	VGNC	VGNC:69295
Macaca mulatta	RFC2	VGNC	VGNC:76901
Others	RFC2	NCBI