• Gene id: 23089

Gene Summary

• Gene Symbol: PEG10   Gene   UCSC   Ensembl
• Aliases: EDR, HB-1, MEF3L, Mar2, Mart2, RGAG3, RTL2, SIRH1
• Gene name: paternally expressed 10
• Alternate names: retrotransposon-derived protein PEG10, MEF3 like 1, Sushi-Ichi retrotransposon homolog 1, embryonal carcinoma differentiation regulated, mammalian retrotransposon-derived 2, mammalian retrotransposon-derived protein 2, myelin expression factor 3-like protein 1, ,
• Gene location: 7q21.3 (94656324: 94669694)     Exons: 2     NC_000007.14
• Gene summary(Entrez): This is a paternally expressed imprinted gene that is thought to have been derived from the Ty3/Gypsy family of retrotransposons. It contains two overlapping open reading frames, RF1 and RF2, and expresses two proteins: a shorter, gag-like protein (with a
• OMIM: 300359

Protein Summary

• Protein general information: Q86TG7  
  • Name: Retrotransposon derived protein PEG10 (Embryonal carcinoma differentiation regulated protein) (Mammalian retrotransposon derived protein 2) (Myelin expression factor 3 like protein 1) (MEF3 like protein 1) (Paternally expressed gene 10 protein) (Retrotran
  • Length: 708  
  • Mass: 80173
  • Tissue specificity: Expressed in the cytotrophoblast layer but not in the overlying syncytiotrophoblast of the placenta. Expressed in prostate and breast carcinomas but not in normal breast and prostate epithelial cells. Expressed in the Hep-G2 cell line
• Sequence:

  MTERRRDELSEEINNLREKVMKQSEENNNLQSQVQKLTEENTTLREQVEPTPEDEDDDIELRGAAAAAAPPPPIE
  EECPEDLPEKFDGNPDMLAPFMAQCQIFMEKSTRDFSVDRVRVCFVTSMMTGRAARWASAKLERSHYLMHNYPAF
  MMEMKHVFEDPQRREVAKRKIRRLRQGMGSVIDYSNAFQMIAQDLDWNEPALIDQYHEGLSDHIQEELSHLEVAK
  SLSALIGQCIHIERRLARAAAARKPRSPPRALVLPHIASHHQVDPTEPVGGARMRLTQEEKERRRKLNLCLYCGT
  GGHYADNCPAKASKSSPAGKLPGPAVEGPSATGPEIIRSPQDDASSPHLQVMLQIHLPGRHTLFVRAMIDSGASG
  NFIDHEYVAQNGIPLRIKDWPILVEAIDGRPIASGPVVHETHDLIVDLGDHREVLSFDVTQSPFFPVVLGVRWLS
  THDPNITWSTRSIVFDSEYCRYHCRMYSPIPPSLPPPAPQPPLYYPVDGYRVYQPVRYYYVQNVYTPVDEHVYPD
  HRLVDPHIEMIPGAHSIPSGHVYSLSEPEMAALRDFVARNVKDGLITPTIAPNGAQVLQVKRGWKLQVSYDCRAP
  NNFTIQNQYPRLSIPNLEDQAHLATYTEFVPQIPGYQTYPTYAAYPTYPVGFAWYPVGRDGQGRSLYVPVMITWN
  PHWYRQPPVPQYPPPQPPPPPPPPPPPPSYSTL

• Structural information:
  • Interpro: IPR032549  IPR032567  IPR021109  IPR001878  IPR036875  
  • Prosite: PS50158
  • STRING: ENSP00000418944
• Other Databases: GeneCards:  PEG10  Malacards:  PEG10

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0008270	zinc ion binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray