• Gene id: 51507

Gene Summary

• Gene Symbol: RTF2   Gene   UCSC   Ensembl
• Aliases: C20orf43, CDAO5, HSPC164, RTFDC1, SHUJUN-3
• Gene name: replication termination factor 2
• Alternate names: replication termination factor 2, UPF0549 protein C20orf43, protein RTF2 homolog, replication termination factor 2 domain containing 1, replication termination factor 2 domain-containing protein 1,
• Gene location: 20q13.31 (56468584: 56519448)     Exons: 12     NC_000020.11
• OMIM: 0

Protein Summary

• Protein general information: Q9BY42  
  • Name: Replication termination factor 2 (RTF2) (Replication termination factor 2 domain containing protein 1)
  • Length: 306  
  • Mass: 33887
• Sequence:

  MGCDGGTIPKRHELVKGPKKVEKVDKDAELVAQWNYCTLSQEILRRPIVACELGRLYNKDAVIEFLLDKSAEKAL
  GKAASHIKSIKNVTELKLSDNPAWEGDKGNTKGDKHDDLQRARFICPVVGLEMNGRHRFCFLRCCGCVFSERALK
  EIKAEVCHTCGAAFQEDDVIMLNGTKEDVDVLKTRMEERRLRAKLEKKTKKPKAAESVSKPDVSEEAPGPSKVKT
  GKPEEASLDSREKKTNLAPKSTAMNESSSGKAGKPPCGATKRSIADSEESEAYKSLFTTHSSAKRSKEESAHWVT
  HTSYCF

• Structural information:
  • Interpro: IPR006735  IPR027799  
  • STRING: ENSP00000023939
• Other Databases: GeneCards:  RTF2  Malacards:  RTF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071171	site-specific DNA replication termination at RTS1 barrier	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005657	replication fork	IDA	cellular component
GO:0003677	DNA binding	IDA	molecular function
GO:0072711	cellular response to hydroxyurea	IMP	biological process
GO:0097752	regulation of DNA stability	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1902979	mitotic DNA replication termination	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq