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    RFC2 replication factor C subunit 2 [ Homo sapiens (human) ]

    Gene ID: 5982, updated on 3-Nov-2024

    Summary

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    Official Symbol
    RFC2provided by HGNC
    Official Full Name
    replication factor C subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:9970
    See related
    Ensembl:ENSG00000049541 MIM:600404; AllianceGenome:HGNC:9970
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RFC40
    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]
    Expression
    Ubiquitous expression in lymph node (RPKM 10.0), placenta (RPKM 8.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RFC2 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (74231502..74254399, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (75433796..75456693, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73645832..73668729, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73610469-73610970 Neighboring gene eukaryotic translation initiation factor 4H Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26140 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18274 Neighboring gene microRNA 590 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18275 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26144 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73630833-73631789 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73634419-73635267 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26146 Neighboring gene linker for activation of T cells family member 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73667761-73668363 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:73668364-73668966 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:73668967-73669569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26149 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26151 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73676953-73677454 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73677455-73677954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26153 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26155 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26154 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26157 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73693216-73693846 Neighboring gene uncharacterized LOC107986742 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73696998-73697628 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26158 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18277 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73704091-73704735 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73704736-73705379 Neighboring gene Sharpr-MPRA regulatory region 1083 Neighboring gene NFE2L2 motif-containing MPRA enhancer 193 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:73722243-73722881 Neighboring gene CAP-Gly domain containing linker protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73778293-73779164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73779165-73780034 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73786483-73787481 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73794630-73795130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73795131-73795631 Neighboring gene Sharpr-MPRA regulatory region 11240 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:73810181-73810370 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73818996-73819860 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73819861-73820723

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. RFC2: a prognosis biomarker correlated with the immune signature in diffuse lower-grade gliomas. Zhao X, et al. Sci Rep, 2022 Feb 24. PMID 35210438, Free PMC Article
    2. RFC2 promotes aerobic glycolysis and progression of colorectal cancer. Lou F, et al. BMC Gastroenterol, 2023 Oct 11. PMID 37821801, Free PMC Article
    3. The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion. Peoples R, et al. Am J Hum Genet, 1996 Jun. PMID 8651315, Free PMC Article
    4. Up-regulated RFC2 predicts unfavorable progression in hepatocellular carcinoma. Ji Z, et al. Hereditas, 2021 May 22. PMID 34022962, Free PMC Article
    5. Cyclic AMP regulates the expression and nuclear translocation of RFC40 in MCF7 cells. Gupte RS, et al. Exp Cell Res, 2006 Apr 1. PMID 16413017

    See all (166) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RFC2 promotes aerobic glycolysis and progression of colorectal cancer.
      Title: RFC2 promotes aerobic glycolysis and progression of colorectal cancer.
    2. CircCOL1A2 Sponges MiR-1286 to Promote Cell Invasion and Migration of Gastric Cancer by Elevating Expression of USP10 to Downregulate RFC2 Ubiquitination Level.
      Title: CircCOL1A2 Sponges MiR-1286 to Promote Cell Invasion and Migration of Gastric Cancer by Elevating Expression of USP10 to Downregulate RFC2 Ubiquitination Level.
    3. RFC2: a prognosis biomarker correlated with the immune signature in diffuse lower-grade gliomas.
      Title: RFC2: a prognosis biomarker correlated with the immune signature in diffuse lower-grade gliomas.
    4. Up-regulated RFC2 predicts unfavorable progression in hepatocellular carcinoma.
      Title: Up-regulated RFC2 predicts unfavorable progression in hepatocellular carcinoma.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Polymorphisms in the base excision repair pathway and graft-versus-host disease.
    6. Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
      Title: Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk.
    7. RPA plays a regulatory role in DNA damage responses via repression of RFC2 ubiquitylation in human cells.
      Title: DNA damage-induced ubiquitylation of RFC2 subunit of replication factor C complex.
    8. Upregulation by BCR/ABL requires activation of STAT5 and plays a key role in the BCR/ABL-mediated cell protection from apoptosis.
      Title: Complementary functions of the antiapoptotic protein A1 and serine/threonine kinase pim-1 in the BCR/ABL-mediated leukemogenesis.
    9. The cAMP functions as an upstream modulator that regulates the expression and nuclear translocation of RFC40 protein.
      Title: Cyclic AMP regulates the expression and nuclear translocation of RFC40 in MCF7 cells.
    10. evidence is presented for a novel interaction between RFC40 and the RIalpha subunit of PKA; findings indicate that modulation in the formation of the RFC40-RIa complex is associated with decreased cell survival
      Title: 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.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat interacts with the RNA polymerase II holoenzyme, which includes RFC, during Tat-mediated transactivation of the HIV-1 LTR PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC3665

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    contributes_to DNA clamp loader activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    contributes_to DNA clamp loader activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables enzyme binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    contributes_to single-stranded DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA-templated DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA-templated DNA replication IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of DNA-directed DNA polymerase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Ctf18 RFC-like complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of DNA replication factor C complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of DNA replication factor C complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of DNA replication factor C complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    replication factor C subunit 2
    Names
    A1 40 kDa subunit
    RF-C 40 kDa subunit
    activator 1 subunit 2
    replication factor C (activator 1) 2, 40kDa

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008102.1 RefSeqGene

      Range
      5010..27907
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278791.2 → NP_001265720.1  replication factor C subunit 2 isoform 3

      See identical proteins and their annotated locations for NP_001265720.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in its 5' UTR, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AW450467, BC002813, BM563468, HY046046, HY056452
      UniProtKB/Swiss-Prot
      P35250
      Conserved Domains (1) summary
      PLN03025
      Location:2 → 247
      PLN03025; replication factor C subunit; Provisional

    2. NM_001278792.2 → NP_001265721.1  replication factor C subunit 2 isoform 4

      See identical proteins and their annotated locations for NP_001265721.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an exon in the central coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AW450467, BC002813, BM810551, HY046046, HY056452
      Consensus CDS
      CCDS75618.1
      UniProtKB/TrEMBL
      A0A087WVY3
      Related
      ENSP00000479768.1, ENST00000621097.4
      Conserved Domains (1) summary
      PLN03025
      Location:5 → 245
      PLN03025; replication factor C subunit; Provisional

    3. NM_001278793.2 → NP_001265722.1  replication factor C subunit 2 isoform 5

      See identical proteins and their annotated locations for NP_001265722.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in its 5' UTR, lacks an in-frame exon in its 5' coding region, and begins translation at a downstream start codon, compared to variant 1. The encoded isoform (5) is shorter, compared to isoform 1.
      Source sequence(s)
      AW450467, BC002813, BQ674131, HY046046, HY056452
      UniProtKB/TrEMBL
      H7C5P4
      Conserved Domains (3) summary
      PLN03025
      Location:9 → 213
      PLN03025; replication factor C subunit; Provisional
      pfam08542
      Location:139 → 207
      Rep_fac_C; Replication factor C C-terminal domain
      pfam16193
      Location:73 → 101
      AAA_assoc_2; AAA C-terminal domain

    4. NM_002914.5 → NP_002905.2  replication factor C subunit 2 isoform 2

      See identical proteins and their annotated locations for NP_002905.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AW450467, BC002813, HY046046, HY056452
      Consensus CDS
      CCDS5567.1
      UniProtKB/TrEMBL
      B5BUD2, Q75MT5
      Related
      ENSP00000275627.3, ENST00000352131.7
      Conserved Domains (4) summary
      cd00009
      Location:51 → 151
      AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
      PLN03025
      Location:36 → 314
      PLN03025; replication factor C subunit; Provisional
      pfam08542
      Location:240 → 308
      Rep_fac_C; Replication factor C C-terminal domain
      pfam16193
      Location:174 → 202
      AAA_assoc_2; AAA C-terminal domain

    5. NM_181471.3 → NP_852136.1  replication factor C subunit 2 isoform 1

      See identical proteins and their annotated locations for NP_852136.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AB451243, AW450467, BC002813, HY046046, HY056452
      Consensus CDS
      CCDS5568.1
      UniProtKB/Swiss-Prot
      B5BU07, D3DXG3, P32846, P35250, Q9BU93
      UniProtKB/TrEMBL
      B5BUD2
      Related
      ENSP00000055077.3, ENST00000055077.8
      Conserved Domains (1) summary
      PLN03025
      Location:36 → 348
      PLN03025; replication factor C subunit; Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      74231502..74254399 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420683.1 → XP_047276639.1  replication factor C subunit 2 isoform X1

    2. XM_047420684.1 → XP_047276640.1  replication factor C subunit 2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      75433796..75456693 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358753.1 → XP_054214728.1  replication factor C subunit 2 isoform X1

    2. XM_054358754.1 → XP_054214729.1  replication factor C subunit 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P35250.3 GenPept UniProtKB/Swiss-Prot:P35250

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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