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

    Gene ID: 5982, updated on 8-Jul-2021

    Summary

    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
    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
    NEW
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    Genomic context

    See RFC2 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (74231502..74254452, complement)
    105.20201022 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 eukaryotic translation initiation factor 4H Neighboring gene microRNA 590 Neighboring gene linker for activation of T cells family member 2 Neighboring gene uncharacterized LOC107986742 Neighboring gene NFE2L2 motif-containing MPRA enhancer 193 Neighboring gene CAP-Gly domain containing linker protein 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to DNA clamp loader activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    involved_in DNA-dependent DNA replication IBA
    Inferred from Biological aspect of Ancestor
    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
    PubMed 
    part_of DNA replication factor C complex IDA
    Inferred from Direct Assay
    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
    PubMed 

    General protein information

    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)

    NEW Try the new Transcript table

    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_001278791.2NP_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:2247
      PLN03025; replication factor C subunit; Provisional
    2. NM_001278792.2NP_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/Swiss-Prot
      P35250
      UniProtKB/TrEMBL
      A0A087WVY3
      Related
      ENSP00000479768.1, ENST00000621097.4
      Conserved Domains (1) summary
      PLN03025
      Location:5245
      PLN03025; replication factor C subunit; Provisional
    3. NM_001278793.2NP_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/Swiss-Prot
      P35250
      Conserved Domains (3) summary
      PLN03025
      Location:9213
      PLN03025; replication factor C subunit; Provisional
      pfam08542
      Location:139207
      Rep_fac_C; Replication factor C C-terminal domain
      pfam16193
      Location:73101
      AAA_assoc_2; AAA C-terminal domain
    4. NM_002914.5NP_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/Swiss-Prot
      P35250
      UniProtKB/TrEMBL
      Q75MT5
      Related
      ENSP00000275627.3, ENST00000352131.7
      Conserved Domains (4) summary
      cd00009
      Location:51151
      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:36314
      PLN03025; replication factor C subunit; Provisional
      pfam08542
      Location:240308
      Rep_fac_C; Replication factor C C-terminal domain
      pfam16193
      Location:174202
      AAA_assoc_2; AAA C-terminal domain
    5. NM_181471.3NP_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
      P35250
      Related
      ENSP00000055077.3, ENST00000055077.8
      Conserved Domains (1) summary
      PLN03025
      Location:36348
      PLN03025; replication factor C subunit; Provisional

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      74231502..74254452 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017012492.2XP_016867981.1  replication factor C subunit 2 isoform X1

      Conserved Domains (1) summary
      PLN03025
      Location:2247
      PLN03025; replication factor C subunit; Provisional
    2. XM_006716080.2XP_006716143.1  replication factor C subunit 2 isoform X2

      Conserved Domains (3) summary
      PLN03025
      Location:9211
      PLN03025; replication factor C subunit; Provisional
      pfam08542
      Location:137205
      Rep_fac_C; Replication factor C C-terminal domain
      pfam16193
      Location:7199
      AAA_assoc_2; AAA C-terminal domain
    3. XM_017012493.1XP_016867982.1  replication factor C subunit 2 isoform X2

      Conserved Domains (3) summary
      PLN03025
      Location:9211
      PLN03025; replication factor C subunit; Provisional
      pfam08542
      Location:137205
      Rep_fac_C; Replication factor C C-terminal domain
      pfam16193
      Location:7199
      AAA_assoc_2; AAA C-terminal domain

    RNA

    1. XR_927506.3 RNA Sequence

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