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

Gene ID: 51507, updated on 1-Aug-2020

Summary

Official Symbol
RTF2provided by HGNC
Official Full Name
replication termination factor 2provided by HGNC
Primary source
HGNC:HGNC:15890
See related
Ensembl:ENSG00000022277
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
Expression
Ubiquitous expression in brain (RPKM 40.3), bone marrow (RPKM 39.0) and 25 other tissues See more
Orthologs

Genomic context

See RTF2 in Genome Data Viewer
Location:
20q13.31
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (56468585..56519449)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (55043641..55093942)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene cleavage stimulation factor subunit 1 Neighboring gene Cas scaffold protein family member 4 Neighboring gene ribosomal protein L39 pseudogene Neighboring gene uncharacterized LOC105372681 Neighboring gene glucosaminyl (N-acetyl) transferase family member 7 Neighboring gene family with sequence similarity 209 member A Neighboring gene family with sequence similarity 209 member B Neighboring gene long intergenic non-protein coding RNA 1716

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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular response to hydroxyurea IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic DNA replication termination IEA
Inferred from Electronic Annotation
more info
 
regulation of DNA stability IMP
Inferred from Mutant Phenotype
more info
PubMed 
site-specific DNA replication termination at RTS1 barrier IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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_001283035.1NP_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, BC003359, BG468509, DC397043
    Consensus CDS
    CCDS63316.1
    UniProtKB/Swiss-Prot
    Q9BY42
    UniProtKB/TrEMBL
    A0A0A0MQR2, B4DXL5
    Related
    ENSP00000023939.5, ENST00000023939.8
    Conserved Domains (1) summary
    pfam04641
    Location:1319
    Rtf2; Rtf2 RING-finger
  2. NM_001283036.1NP_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, BC003359, BG468509, DC397043
    UniProtKB/Swiss-Prot
    Q9BY42
    Conserved Domains (1) summary
    pfam04641
    Location:1288
    Rtf2; Rtf2 RING-finger
  3. NM_001283037.1NP_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, BC003359, BG468509, CR983692, DC397043
    Consensus CDS
    CCDS63317.1
    UniProtKB/Swiss-Prot
    Q9BY42
    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
    Q9BY42
    Related
    ENSP00000349906.6, ENST00000357348.9
    Conserved Domains (1) summary
    pfam04641
    Location:1289
    Rtf2; Rtf2 RING-finger

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    56468585..56519449
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    pfam04641
    Location:4270
    Rtf2; Rtf2 RING-finger
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