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RFC2 Gene

protein-coding   GIFtS: 69
GCID: GC07M073645

Replication Factor C (Activator 1) 2, 40kDa

(Previous name: replication factor C (activator 1) 2 (40kD))
  See RFC2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Replication Factor C (Activator 1) 2, 40kDa1 2     Activator 11
Activator 1 Subunit 22 3     Replication Factor C (Activator 1) 2 (40kD)1
RFC402 3     Replication Factor C Subunit 22
A1 40 KDa Subunit2 3     Activator 1 40 KDa Subunit3
RF-C 40 KDa Subunit2 3     Replication Factor C 40 KDa Subunit3

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RFC2 Gene:
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)

GeneCards Summary for RFC2 Gene:
RFC2 (replication factor C (activator 1) 2, 40kDa) is a protein-coding gene. Diseases associated with RFC2 include tsh producing pituitary tumor, and williams syndrome. GO annotations related to this gene include nucleoside-triphosphatase activity.

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 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   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 plasmidRFC2 promoter sequence
   Search Chromatin IP Primers for RFC2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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

Explore proteomics data for RFC2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys82, Lys176, Lys192
  • Modification sites at PhosphoSitePlus

  • See RFC2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001265720.1  NP_001265721.1  NP_001265722.1  NP_002905.2  NP_852136.1  

    ENSEMBL proteins: 
     ENSP00000275627   ENSP00000055077   ENSP00000419320   ENSP00000420404   ENSP00000420513  
     ENSP00000419341   ENSP00000418899   ENSP00000420392   ENSP00000420731   ENSP00000420563  
     ENSP00000419827   ENSP00000436840  
    Reactome Protein details: P35250

    RFC2 Human Recombinant Protein Products:

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    OriGene MassSpec for RFC2
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    Novus Biologicals RFC2 Proteins
    Novus Biologicals RFC2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RFC2

     
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    RFC2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    LSBio Antibodies in human, mouse, rat for RFC2

    RFC2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for RFC2
    Cloud-Clone Corp. CLIAs for RFC2
    Search eBioscience for ELISAs for RFC2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    AATP: ATPases / AAA-type

    5 InterPro protein domains:
     IPR003959 ATPase_AAA_core
     IPR008921 DNA_pol3_clamp-load_cplx_C
     IPR013748 Rep_factorC_C_dom
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase

    Graphical View of Domain Structure for InterPro Entry P35250

    ProtoNet protein and cluster: P35250

    1 Blocks protein domain: IPB013748 Replication factor C

    UniProtKB/Swiss-Prot: RFC2_HUMAN, P35250
    Similarity: Belongs to the activator 1 small subunits family


    Find genes that share domains with RFC2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI15655353
    GO:0005524ATP binding IEA--
    GO:0016851magnesium chelatase activity ----
         
    Find genes that share ontologies with RFC2           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for RFC2:
     Decreased nuclei size in G2M  Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RFC2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RFC2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RFC2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RFC2

    miRNA
    Products:
        
    miRTarBase miRNAs that target RFC2:
    hsa-mir-149-5p (MIRT045679), hsa-mir-1 (MIRT023820), hsa-mir-196a-5p (MIRT048154)

    Block miRNA regulation of human, mouse, rat RFC2 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate RFC2
    SwitchGear 3'UTR luciferase reporter plasmidRFC2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for RFC2
    Predesigned siRNA for gene silencing in human, mouse, rat RFC2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for RFC2

    Clone
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    OriGene clones in human, mouse for RFC2 (see all 11)
    OriGene ORF clones in mouse, rat for RFC2
    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)
    Sino Biological Human cDNA Clone for RFC2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RFC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RFC2

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RFC2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RFC2_HUMAN, P35250: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol3
    extracellular1
    golgi apparatus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0005663DNA replication factor C complex IDA9488738

    Find genes that share ontologies with RFC2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for RFC2 About   (see all 9)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Telomere C-strand (Lagging Strand) Synthesis
    Gap-filling DNA repair synthesis and ligation in TC-NER0.94
    Cell cycle Transition and termination of DNA replication0.43
    Repair synthesis of patch ~27-30 bases long by DNA polymerase0.94
    Polymerase switching on the C-strand of the telomere0.00
    Telomere C-strand (Lagging Strand) Synthesis0.79
    Lagging Strand Synthesis0.00
    Extension of Telomeres0.79
    Repair synthesis for gap-filling by DNA polymerase in TC-NER0.00
    2Global Genomic NER (GG-NER)
    Global Genomic NER (GG-NER)0.69
    Nucleotide Excision Repair Pathway0.48
    Nucleotide excision repair0.69
    3DNA strand elongation
    DNA strand elongation0.63
    DNA replication0.63
    4CDK-mediated phosphorylation and removal of Cdc6
    Synthesis of DNA0.92
    S Phase0.78
    DNA Replication0.92
    Cell Cycle Checkpoints0.58
    5DNA Repair
    Transcription-coupled NER (TC-NER)0.90
    DNA Repair0.45
    Nucleotide Excision Repair0.90


    Find genes that share SuperPaths with RFC2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe 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 Reactome Pathways for RFC2
        Polymerase switching on the C-strand of the telomere
    Repair synthesis for gap-filling by DNA polymerase in TC-NER
    Activation of ATR in response to replication stress
    Polymerase switching
    Repair synthesis of patch ~27-30 bases long by DNA polymerase


    3 Kegg Pathways  (Kegg details for RFC2):
        DNA replication
    Nucleotide excision repair
    Mismatch repair

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RFC2
    Interactions:

        GeneGlobe Interaction Network for RFC2

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

    Selected Interacting proteins for RFC2 (P352501, 2, 3 ENSP000000550774) via UniProtKB, MINT, STRING, and/or I2D (see all 937)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BUB1O436832, 3, ENSP000003025304MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000302530
    PSMC4P436862, 3MINT-7945693 MINT-7947479 I2D: score=4 
    PRKAR1AP106441, 3, ENSP000003514104EBI-476409,EBI-476431 I2D: score=3 STRING: ENSP00000351410
    RFC1P352511, 3, ENSP000002614244EBI-476409,EBI-476616 I2D: score=11 STRING: ENSP00000261424
    COPAP536212, 3MINT-7945693 MINT-7947479 I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0000722telomere maintenance via recombination TAS--
    GO:0000723telomere maintenance TAS--
    GO:0006260DNA replication TAS--
    GO:0006271DNA strand elongation involved in DNA replication TAS--

    Find genes that share ontologies with RFC2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RFC2

    1 Novoseek inferred 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)



    Find genes that share compounds with RFC2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RFC2 gene (5 alternative transcripts): 
    NM_001278791.1  NM_001278792.1  NM_001278793.1  NM_002914.4  NM_181471.2  

    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) ENST00000485545
    ENST00000497430 ENST00000470266 ENST00000494019 ENST00000480432 ENST00000479105
    ENST00000491206 ENST00000493156 ENST00000463194 ENST00000473493
    miRNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RFC2
    Clone
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    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
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RFC2
      QuantiTect SYBR Green Assays in human, mouse, rat RFC2
      QuantiFast Probe-based Assays in human, mouse, rat RFC2

    Additional mRNA 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:

    CR615462 NM_181471 CR626780 CR616761 CR590546 BT007058 CR610195 BC002813 
    NM_002914 M87338 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    RFC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGAAACCCT
    RFC2 Expression
    About this image

    RFC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RFC2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.647062
        Custom PCR Arrays for RFC2
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for RFC2
    OriGene qSTAR qPCR primer pairs in human, mouse for RFC2
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    QuantiTect SYBR Green Assays in human, mouse, rat RFC2
    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

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RFC2 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rfc21 , 5 replication factor C (activator 1) 21, 5 84.43(n)1
    92.55(a)1
      5 (74.68 cM)5
    197181  NM_020022.21  NP_064406.11 
     1345826905 
    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
    replication factor C (activator 1) 2, 40kDa
    93(a)
    1 ↔ 1
    GL343889.1(105848-119769)
    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 75.07(n)
    85.63(a)
      503748  NM_001013326.2  NP_001013344.2 
    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_079191.31  NP_523915.11 
    worm
    (Caenorhabditis elegans)
    Secernentea rfc-21 , 3 DNA replication factor3
    rfc-21
    61(a)3
    60.06(n)1
    62.26(a)1
      IV(1347324-1352888)3
    1769461  NM_067668.41  NP_500069.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RFC4(YOL094C)4
    RFC41
    Subunit of heteropentameric Replication factor C (RF-C), more4
    RFC41
    59.07(n)1
    62.21(a)1
      15(142555-141584)4
    8540591, 4  NP_014547.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RFC21 RFC2 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)
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    Paralogs for RFC2 gene
    2 SIMAP similar genes for RFC2 using alignment to 13 protein entries:     RFC2_HUMAN (see all proteins):
    RFC5    RFC4

    Find genes that share paralogs with RFC2           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for RFC2
    PGOHUM00000240507


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RFC2 (see all 544)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs742729301,2
    C--73645467(+) TTACC-/A/AAA 
            
    AAAAA
    4 -- ds5001 cds11CSA 2
    rs731293801,2
    F--77169823(+) CAAGAT/CTGGCC 2 -- ds50011Minor allele frequency- C:0.02NA 120
    rs1892327671,2
    --77169984(+) CAAAGA/CGTATG 2 -- ds50010--------
    rs1822637841,2
    --77170074(+) GGCTCA/GCCACC 2 -- ds50010--------
    rs737053561,2
    C,F--77170170(+) AGAACC/TGAGAT 2 -- ds50012Minor allele frequency- T:0.04WA 120
    rs10641271,2
    C--77170339(-) GGCGGT/GCTCTG 2 -- ut31 ese32Minor allele frequency- G:0.00NA 4
    rs11342351,2
    C,F--77170488(-) cagagT/Actcca 2 -- ut316Minor allele frequency- A:0.15NS NA CSA WA 304
    rs125386101,2
    C,A,H--77170573(+) tgccaC/Tagcct 2 -- ut31 ese30--------
    rs1852542091,2
    --77170605(+) GTGCCC/TGCCAC 2 -- ut310--------
    rs69457861,2
    C--77170624(+) gctaaC/Ttttta 2 -- ut310--------

    HapMap Linkage Disequilibrium report for RFC2 (73645829 - 73668774 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for RFC2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv819656CNV Loss19587683
    nsv831030CNV Gain17160897
    nsv464563CNV Gain19166990

    Human Gene Mutation Database (HGMD): RFC2
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing RFC2
    DNA2.0 Custom Variant and Variant Library Synthesis for RFC2

    (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.)
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    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

  • 3 diseases for RFC2:    
    About MalaCards
    tsh producing pituitary tumor    williams syndrome    williams-beuren syndrome

    2 diseases from the University of Copenhagen DISEASES database for RFC2:
    TSH producing pituitary tumor     Williams-Beuren syndrome

    Find genes that share disorders with RFC2           About GenesLikeMe

    1 Novoseek inferred 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)

    Genetic Association Database (GAD): RFC2
    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)
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    PubMed articles for RFC2 gene, integrated from 10 sources (see all 66):
    (articles sorted by number of sources associating them with RFC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Proc. Natl. Acad. Sci. U.S.A. 1992)
    2. 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. (Mamm. Genome 2000)
    3. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PubMed id 20522537)1, 4 Briggs F.B....Barcellos L.F. (Am. J. Epidemiol. 2010)
    4. Association between genetic variants in the base excision repair pathway and outcomes after hematopoietic cell transplantations. (PubMed id 20226869)1, 4 Thyagarajan B....Arora M. (Biol. Blood Marrow Transplant. 2010)
    5. Polymorphisms in the base excision repair pathway and graft-versus-host disease. (PubMed id 20574454)1, 4 Arora M....Thyagarajan B. (Leukemia 2010)
    6. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PubMed id 19237606)1, 4 Michiels S....Benhamou S. (Carcinogenesis 2009)
    7. 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. (Cell Cycle 2005)
    8. 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. (Genome Res. 2004)
    9. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    10. 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. (Genomics 1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    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)
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    Entrez Gene: 5982 HGNC: 9970 AceView: RFC2 Ensembl:ENSG00000049541 euGenes: HUgn5982
    ECgene: RFC2 Kegg: 5982 H-InvDB: RFC2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RFC2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RFC2 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/rfc2/

    (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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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