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    RTF2 replication termination factor 2 [ Homo sapiens (human) ]

    Gene ID: 51507, updated on 27-Nov-2024

    Summary

    Official Symbol
    RTF2provided by HGNC
    Official Full Name
    replication termination factor 2provided by HGNC
    Primary source
    HGNC:HGNC:15890
    See related
    Ensembl:ENSG00000022277 AllianceGenome:HGNC:15890
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CDAO5; RTFDC1; HSPC164; C20orf43; SHUJUN-3
    Summary
    Enables DNA binding activity. Involved in cellular response to hydroxyurea and regulation of DNA stability. Located in replication fork. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 40.3), bone marrow (RPKM 39.0) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See RTF2 in Genome Data Viewer
    Location:
    20q13.31
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (56468627..56519449)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (58246116..58296943)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (55043683..55094505)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18142 Neighboring gene cleavage stimulation factor subunit 1 Neighboring gene Cas scaffold protein family member 4 Neighboring gene ribosomal protein L39 pseudogene Neighboring gene small nucleolar RNA U13 Neighboring gene MPRA-validated peak4281 silencer Neighboring gene glucosaminyl (N-acetyl) transferase family member 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:55086509-55087317 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:55087318-55088125 Neighboring gene family with sequence similarity 209 member A Neighboring gene family with sequence similarity 209 member B Neighboring gene uncharacterized LOC124904971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18143

    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

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to hydroxyurea IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitotic DNA replication termination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of DNA stability IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in replication fork IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    replication termination factor 2
    Names
    UPF0549 protein C20orf43
    protein RTF2 homolog
    replication termination factor 2 domain containing 1
    replication termination factor 2 domain-containing protein 1

    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.

    mRNA and Protein(s)

    1. NM_001283035.2NP_001269964.1  replication termination factor 2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AA814039, AK302029, AL109806, BC003359, BG468509, DC397043
      Consensus CDS
      CCDS63316.1
      UniProtKB/TrEMBL
      A0A0A0MQR2, B4DXL5
      Related
      ENSP00000023939.5, ENST00000023939.8
      Conserved Domains (1) summary
      pfam04641
      Location:1319
      Rtf2; Rtf2 RING-finger
    2. NM_001283036.2NP_001269965.1  replication termination factor 2 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AA814039, AK225135, AL109806, BC003359, BG468509, DC397043
      UniProtKB/TrEMBL
      B2RB99
      Conserved Domains (1) summary
      pfam04641
      Location:1288
      Rtf2; Rtf2 RING-finger
    3. NM_001283037.2NP_001269966.1  replication termination factor 2 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region, and lacks an alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (d) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AA814039, AL109806, BC003359, BG468509, CR983692, DC397043
      Consensus CDS
      CCDS63317.1
      UniProtKB/TrEMBL
      A2A2L6
      Related
      ENSP00000379220.3, ENST00000395881.7
      Conserved Domains (1) summary
      pfam04641
      Location:1198
      Rtf2; Rtf2 RING-finger
    4. NM_016407.5NP_057491.2  replication termination factor 2 isoform b

      See identical proteins and their annotated locations for NP_057491.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AA814039, AL109806, BC003359, BG468509, DC397043
      Consensus CDS
      CCDS13453.1
      UniProtKB/Swiss-Prot
      E1P5Z9, Q9BY42, Q9BYL7, Q9HCV9, Q9NX29, Q9NZZ8, Q9P002, Q9UHW3
      UniProtKB/TrEMBL
      B2RB99
      Related
      ENSP00000349906.6, ENST00000357348.10
      Conserved Domains (1) summary
      pfam04641
      Location:1289
      Rtf2; Rtf2 RING-finger

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      56468627..56519449
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017027872.2XP_016883361.1  replication termination factor 2 isoform X1

      UniProtKB/TrEMBL
      B2RB99
      Conserved Domains (1) summary
      pfam04641
      Location:4270
      Rtf2; Rtf2 RING-finger
    2. XM_047440189.1XP_047296145.1  replication termination factor 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      58246116..58296943
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323483.1XP_054179458.1  replication termination factor 2 isoform X1

    2. XM_054323482.1XP_054179457.1  replication termination factor 2 isoform X1