RFC2 - replication factor C subunit 2 Gene

Homo sapiens

Also known as RFC40

Gene ID: 5982 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

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

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