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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RFC2 Gene

protein-coding GIFtS: 68
GCID: GC07M073645

replication factor C (activator 1) 2, 40kDa

(Previous name: replication factor C (activator 1) 2 (40kD) )

Explore 8 diseases affiliated with
RFC2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Replication Factor C (Activator 1) 2, 40kDa¹ ²		RF-C 40 KDa Subunit² ³
RFC40¹ ² ³		Replication Factor C (Activator 1) 2 (40kD)¹
A1¹ ²		Replication Factor C 2²
Activator 1 40 KDa Subunit² ³		Replication Factor C Subunit 2²
Activator 1 Subunit 2² ³		Replication Factor C 40 KDa Subunit³
A1 40 KDa Subunit² ³

External Ids:	HGNC: 9970¹	Entrez Gene: 5982²	Ensembl: ENSG00000049541⁷	OMIM: 600404⁵	UniProtKB: P35250³

Export aliases for RFC2 gene to outside databases

Previous GC identifers: GC07M072286 GC07M073044 GC07M073057 GC07M073090 GC07M073283 GC07M069527

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RFC2:

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)

UniProtKB/Swiss-Prot: RFC2_HUMAN, P35250

Function: 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 activator 1. This subunit binds ATP (By similarity)

Gene Wiki entry for RFC2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 NT_007933.15 NT_079593.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RFC2 gene promoter:
NF-1 HOXA3 FOXD1 HNF-1A E2F-1 E2F HNF-1 FOXO1a Ik-1 FOXO1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RFC2 promoter sequence

Search SABiosciences Chromatin IP Primers for RFC2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RFC2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q11.23 Ensembl cytogenetic band: 7q11.23 HGNC cytogenetic band: 7q11.23

RFC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RFC2 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M073645: view genomic region (about GC identifiers)

Start:	73,645,829 bp from pter	End:	73,668,774 bp from pter
Size:	22,946 bases	Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 72,978,904-73,001,810

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RFC2_HUMAN, P35250 (See protein sequence)

Recommended Name: Replication factor C subunit 2

Size: 354 amino acids; 39157 Da

Subunit: Heterotetramer of subunits RFC2, RFC3, RFC4 and RFC5 that can form a complex either with RFC1 or with RAD17.

The former interacts with PCNA in the presence of ATP, while the latter has ATPase activity but is not stimulated by

PCNA. RFC2 also interacts with PRKAR1A; the complex may be involved in cell survival

Subcellular location: Nucleus (Probable)

Secondary accessions: B5BU07 D3DXG3 P32846 Q9BU93

Alternative splicing: 2 isoforms: P35250-1 P35250-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RFC2: NX_P35250

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P35250

RFC2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_002905.2 NP_852136.1

ENSEMBL proteins:

ENSP00000275627 ENSP00000055077 ENSP00000420563 ENSP00000419320 ENSP00000420404

ENSP00000420513 ENSP00000419341 ENSP00000418899 ENSP00000420392 ENSP00000420731

ENSP00000419827 ENSP00000436840

Reactome Protein details: P35250
Human Recombinant Protein Products for RFC2:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: RFC2 OriGene Protein Over-expression Lysate (see all 3): RFC2 OriGene Custom Protein Services for RFC2
	GenScript Custom Purified and Recombinant Proteins Services for RFC2
	Novus Biologicals RFC2 Proteins Novus Biologicals RFC2 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for RFC2

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005654	nucleoplasm	TAS	--
GO:0005663	DNA replication factor C complex	IDA	9488738

RFC2 for ontologies About GeneDecksing

RFC2 Antibody Products:

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	OriGene Antibodies (see all 8): RFC2 OriGene Custom Antibody Services for RFC2
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	Novus Biologicals RFC2 Antibodies
	Abcam antibodies for RFC2
	Uscn Antibodies for RFC2
	ThermoFisher Antibodies for RFC2

Assay Products for RFC2:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for RFC2
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for RFC2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

RFC2 for domains About GeneDecksing

4 InterPro domains/families:

IPR003959 ATPase_AAA_core

IPR008921 DNA_pol3_clamp-load_cplx_C

IPR013748 Rep_factorC_C_dom

IPR003593 AAA+_ATPase

Graphical View of Domain Structure for InterPro Entry P35250

ProtoNet protein and cluster: P35250

1 Blocks protein family: IPB013748 Replication factor C

UniProtKB/Swiss-Prot: RFC2_HUMAN, P35250

Similarity: Belongs to the activator 1 small subunits family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: RFC2_HUMAN, P35250

Function: 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 activator 1. This subunit binds ATP (By similarity)

Genatlas biochemistry entry for RFC2:

replication factor C2,component of complex A-1,DNA polymerase accessory protein "clamp loader",ATP dependent,required

to assemble PCNA and polymerase delta on the DNA template

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IEA	--
GO:0005515	protein binding	IPI	15655353
GO:0005524	ATP binding	IEA	--
GO:0017111	nucleoside-triphosphatase activity	IEA	--

RFC2 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for RFC2:

Decreased nuclei size in G2M

Increased gamma-H2AX phosphory

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for RFC2

miRNA Products:		OriGene 3'-UTR Clone (see all 2): RFC2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RFC2
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate RFC2
		SwitchGear 3'UTR luciferase reporter plasmid: RFC2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RFC2 (see all 7) OriGene shRNA RFP: RFC2 OriGene siRNA: RFC2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RFC2
		Sirion Biotech Custom design and validation of potent shRNA sequences against RFC2

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for RFC2
			Sirion Biotech Customized adenovirus for overexpression of RFC2 Sirion Biotech Customized adenovirus for potent knockdown of RFC2

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RFC2 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RFC2 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): RFC2 (NM_002914)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for RFC2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RFC2

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for RFC2
		Search LifeMap BioReagents cell lines for RFC2
		Sirion Biotech Customized stable knockdown cell line services for RFC2 Sirion Biotech Customized inducible knockdown cell line services for RFC2 Sirion Biotech Customized stable overexpressing cell line services for RFC2 Sirion Biotech Customized inducible overexpressing cell line services for RFC2

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RFC2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Lagging Strand Synthesis

8/14 pathways (see all 14)
Lagging Strand Synthesis	1.00	Gap-filling DNA repair synthesis and ligation in TC-NER	0.64
Telomere C-strand (Lagging Strand) Synthesis	0.91	Gap-filling DNA repair synthesis and ligation in GG-NER	0.64
Extension of Telomeres	0.83	Repair synthesis of patch ~27-30 bases long by DNA polymerase	0.59
Polymerase switching on the C-strand of the telomere	0.70	Repair synthesis for gap-filling by DNA polymerase in TC-NER	0.59

Ubiquitinated Orc1 is degraded by the proteasome

	Synthesis of DNA	0.51			Cell Cycle Checkpoints	0.42
	DNA Replication	0.49			S Phase	0.40

Global Genomic NER (GG-NER)

	Global Genomic NER (GG-NER)	1.00			Nucleotide Excision Repair Pathway	0.49
	Nucleotide excision repair	0.70

Nucleotide Excision Repair

	Nucleotide Excision Repair	1.00			DNA Repair	0.46
	Transcription-coupled NER (TC-NER)	0.90

Activation of ATR in response to replication stress

Activation of ATR in response to replication stress

1.00

G2/M Checkpoints

0.86

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for RFC2

Cell cycle Transition and termination of DNA replacation

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for RFC2

	Mismatch Repair in Eukaryotes
	Nucleotide Excision Repair Pathway

1 GeneGo (Thomson Reuters) Pathway for RFC2

Cell cycle Transition and termination of DNA replication

1 BioSystems Pathway for RFC2

DNA Replication

5/25 Reactome Pathways for RFC2 (see all 25)

	Extension of Telomeres
	Telomere Maintenance
	DNA Repair
	Activation of ATR in response to replication stress
	Leading Strand Synthesis

3 Kegg Pathways (Kegg details for RFC2):

	DNA replication
	Nucleotide excision repair
	Mismatch repair

RFC2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for RFC2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/835 Interacting proteins for RFC2 (P35250^{1, 2, 3} ENSP00000055077⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 835)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PSMC4	P43686²^,³	MINT-7945693 MINT-7947479 I2D: score=4
PRKAR1A	P10644¹^,³, ENSP00000351410⁴	EBI-476409,EBI-476431 I2D: score=3 STRING: ENSP00000351410
RFC1	P35251¹^,³, ENSP00000261424⁴	EBI-476409,EBI-476616 I2D: score=11 STRING: ENSP00000261424
BUB1	O43683²^,³	MINT-7945693 MINT-7947479 I2D: score=1
COPA	P53621²^,³	MINT-7945693 MINT-7947479 I2D: score=1

About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000075	cell cycle checkpoint	TAS	--
GO:0000084	S phase of mitotic cell cycle	TAS	--
GO:0000278	mitotic cell cycle	TAS	--
GO:0000722	telomere maintenance via recombination	TAS	--
GO:0000723	telomere maintenance	TAS	--

RFC2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

RFC2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for RFC2
1 Novoseek chemical compound relationship for RFC2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
atp	30.2	2	8202350 (1), 16980295 (1)

Search CenterWatch for drugs/clinical trials and news about RFC2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for RFC2 gene (2 alternative transcripts):

NM_002914.3 NM_181471.1

Unigene Cluster for RFC2:

Replication factor C (activator 1) 2, 40kDa

Hs.647062 [show with all ESTs]

Unigene Representative Sequence: NM_181471

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000352131(uc003uak.3) ENST00000055077(uc003uaj.3) ENST00000493156

ENST00000485545 ENST00000497430 ENST00000470266 ENST00000494019 ENST00000480432

ENST00000479105 ENST00000491206 ENST00000463194 ENST00000473493

miRNA Products:		OriGene 3'-UTR Clone (see all 2): RFC2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RFC2
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate RFC2
		SwitchGear 3'UTR luciferase reporter plasmid: RFC2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RFC2 (see all 7) OriGene shRNA RFP: RFC2 OriGene siRNA: RFC2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RFC2
		Sirion Biotech Custom design and validation of potent shRNA sequences against RFC2

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RFC2 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RFC2 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): RFC2 (NM_002914)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for RFC2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RFC2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RFC2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat RFC2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RFC2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RFC2

Additional cDNA sequence:

AB451243.1 AB451368.1 BC002813.1 BT007058.1

19 DOTS entries:

DT.75167018 DT.95374816 DT.95374819 DT.98131882 DT.100045511 DT.121114252 DT.100815895 DT.121114247

DT.95374806 DT.100045506 DT.100815908 DT.95374809 DT.97860064 DT.99963525 DT.100686798 DT.97792620

DT.97860063 DT.100666268 DT.100815912

10 AceView cDNA sequences:

CR626780 CR615462 BC002813 BT007058 CR610195 CR590546 CR616761 NM_002914

NM_181471 M87338

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for RFC2 (see all 6) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3a	·	3b	^	4a	·	4b	^	5	^	6	^	7a	·	7b	·	7c	^	8a	·	8b	^	9a	·	9b	·	9c	^	10	^	11	^	12a	·	12b	·	12c
SP1:											-				-																						-				-
SP2:											-
SP3:
SP4:											-								-
SP5:																																									-

ECgene alternative splicing isoforms for RFC2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

RFC2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGGAAACCCT

About this image

RFC2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

ES04(HES-4) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See RFC2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RFC2

SOURCE GeneReport for Unigene cluster: Hs.647062

SABiosciences Custom PCR Arrays for RFC2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RFC2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat RFC2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RFC2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RFC2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RFC2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for RFC2 gene from 9/36 species (see all 36) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	RFC2¹	replication factor C (activator 1) 2, 40kDa	77.29(n) 89.86(a)		396542 NM_205530.1 NP_990861.1
lizard (Anolis carolinensis)	Reptilia	RFC2⁶	--	93(a)	1 ↔ 1	GL343889.1(105904-118649)
African clawed frog (Xenopus laevis)	Amphibia	Xl.3920²	Xenopus laevis transcribed sequence with moderate similarity more	79.53(n)		BX847111.1
zebrafish (Danio rerio)	Actinopterygii	rfc2¹	replication factor C (activator 1) 2	78.09(n) 89.72(a)		503748 NM_001013326.1 NP_001013344.1
fruit fly (Drosophila melanogaster)	Insecta	RfC40³ RfC4¹	DNA replication DNA binding³ Replication factor C subunit 4¹	76(a)³ 68.71(n)¹ 75.81(a)¹		38492¹ NM_079191.2¹ NP_523915.1¹
worm (Caenorhabditis elegans)	Secernentea	rfc-2^{1 , 3}	DNA replication factor³ Protein RFC-2¹	61(a)³ 60.06(n)¹ 62.26(a)¹		IV(1347324-1352888)³ 176946¹ NM_067668.3¹ NP_500069.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	RFC4(YOL094C)⁴ RFC4¹	Subunit of heteropentameric Replication factor C (RF-C), more⁴ Rfc4p¹	59.07(n)¹ 62.21(a)¹		15(142555-141584)⁴ 854059^{1, 4} NP_014547.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	RFC2¹	replication factor C 2	63.46(n) 67.08(a)		842620 NM_104994.3 NP_176504.1
rice (Oryza sativa)	Liliopsida	Os.13010²	Oryza sativa (japonica cultivar-group) OsRFC4 mRNA more	71.33(n)		AK069025.1

ENSEMBL Gene Tree for RFC2 (if available)
TreeFam Gene Tree for RFC2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for RFC2 gene

2 SIMAP similar genes for RFC2 using alignment to 13 protein entries: RFC2_HUMAN (see all proteins):

RFC5 RFC4

RFC2 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for RFC2
PGOHUM00000240507

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs73129380^1,2	F	--	72978448(+)	`CAAGAT/CTGGCC`	2	--	ds500¹		1		NA	120
rs73705356^1,2	C	--	72978795(+)	`AGAACC/TGAGAT`	2	--	ds500¹		2		WA	120
rs1064127^1,2	C	--	72978964(-)	`GGCGGT/GCTCTG`	2	--	ut3¹ ese³		2		NA	4
rs1134235^1,2	C,F	--	72979113(-)	`cagagT/Actcca`	2	--	ut3¹		6		NS NA CSA WA	304
rs12538610^1,2	C,A,H	--	72979198(+)	`tgccaC/Tagcct`	2	--	ut3¹ ese³		0	--	--	--	--
rs6945786^1,2	C	--	72979249(+)	`gctaaC/Ttttta`	2	--	ut3¹		0	--	--	--	--
rs1055929^1,2	C,F	--	72979373(-)	`CAGGCA/GCGGTA`	2	--	ut3¹ ese³		7		NS MN NA CSA WA	482
rs41272918^1,2		--	72979389(+)	`CCACTA/GGAGTT`	2	--	ut3¹		0	--	--	--	--
rs3135712^1,2	C,F,H	--	72979451(-)	`GCCGCG/AGCTTT`	2	--	ut3¹ ese³		16		NS EA NA	1740
rs41553218^1,2	C	--	72979592(-)	`AAAATA/GGCGGA`	4	I M	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for RFC2 (73645829 - 73668774 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for RFC2
1 CNV: 59421
Human Gene Mutation Database (HGMD): RFC2

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

RFC2 for disorders About GeneDecksing

OMIM gene information: 600404 OMIM disorders: --

UniProtKB/Swiss-Prot: RFC2_HUMAN, P35250

Note=RFC2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous

deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between

highly homologous low-copy repeat sequences flanking the deleted region

8 diseases for RFC2: About MalaCards

williams syndrome tsh producing pituitary tumor williams-beuren syndrome graft versus host disease

pituitary tumor multiple sclerosis immunodeficiency malaria

1 disease from the University of Copenhagen DISEASES database for RFC2:

Williams-Beuren syndrome

1 Novoseek disease relationship for RFC2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
williams syndrome	77.7	2	8651315 (1)

Human Genome Epidemiology (HuGE) Navigator: RFC2 (6 documents)

Export disorders for RFC2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for RFC2 gene, integrated from 9 sources (see all 63):
(articles sorted by number of sources associating them with RFC2)

Utopia: connect your pdf to the dynamic
world of online information

Sequence and expression in Escherichia coli of the 40-kDa subunit of activator 1 (replication factor C) of HeLa cells. (PubMed id 1313560)^{1, 2, 3} Chen M.... Hurwitz J. (1992)
Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human chromosome 7q11.23. (PubMed id 11003705)^{1, 2, 9} Martindale D.W.... Koop B.F. (2000)
The second subunit of the replication factor C complex (RFC40) and the regulatory subunit (RIalpha) of protein kinase A form a protein complex promoting cell survival. (PubMed id 15655353)^{1, 2} Gupte R.S.... Lee M.Y. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The DNA sequence of human chromosome 7. (PubMed id 12853948)^{1, 2} Hillier L.W.... Wilson R.K. (2003)
Assignment of the 36.5-kDa (RFC5), 37-kDa (RFC4), 38-kDa (RFC3), and 40-kDa (RFC2) subunit genes of human replication factor C to chromosome bands 12q24.2-q24.3, 3q27, 13q12.3-q13, and 7q11.23. (PubMed id 7774928)^{1, 3} Okumura K....Ozawa K. (1995)
The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion. (PubMed id 8651315)^{1, 9} Peoples R....Francke U. (1996)
Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. (PubMed id 8812460)^{1, 9} Osborne L.R....Tsui L.C. (1996)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)¹ Woods N.T....Monteiro A.N. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 5982	HGNC: 9970	AceView: RFC2	Ensembl:ENSG00000049541	euGenes: HUgn5982
ECgene: RFC2	Kegg: 5982	H-InvDB: RFC2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for RFC2	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for RFC2	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/rfc2/

Intellectual Property for RFC2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for RFC2 gene:
Search GeneIP for patents involving RFC2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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replication factor C (activator 1) 2, 40kDa

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RFC2 Gene

replication factor C (activator 1) 2, 40kDa

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