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

Gene ID: 5982, updated on 10-Dec-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
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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
  • 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 promotes aerobic glycolysis and progression of colorectal cancer. Lou F, et al. BMC Gastroenterol, 2023 Oct 11. PMID 37821801, Free PMC Article
  2. 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
  3. 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
  4. Up-regulated RFC2 predicts unfavorable progression in hepatocellular carcinoma. Ji Z, et al. Hereditas, 2021 May 22. PMID 34022962, Free PMC Article
  5. 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

See all (168) 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

    UniProtKB/TrEMBL
    H7C5P4

  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

    UniProtKB/TrEMBL
    H7C5P4

  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

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