• Gene id: 5178

Gene Summary

• Gene Symbol: PEG3   Gene   UCSC   Ensembl
• Aliases: PW1, ZKSCAN22, ZNF904, ZSCAN24
• Gene name: paternally expressed 3
• Alternate names: paternally-expressed gene 3 protein, Kruppel-type zinc finger protein, zinc finger and SCAN domain-containing protein 24,
• Gene location: 19q13.43 (56840725: 56810076)     Exons: 10     NC_000019.10
• Gene summary(Entrez): In human, ZIM2 and PEG3 are treated as two distinct genes though they share multiple 5' exons and a common promoter and both genes are paternally expressed (PMID:15203203). Alternative splicing events connect their shared 5' exons either with the remainin
• OMIM: 601483

Protein Summary

• Protein general information: Q9GZU2  
  • Name: Paternally expressed gene 3 protein (Zinc finger and SCAN domain containing protein 24)
  • Length: 1588  
  • Mass: 180,827
• Sequence:

  MLPPKHLSATKPKKSWAPNLYELDSDLTKEPDVIIGEGPTDSEFFHQRFRNLIYVEFVGPRKTLIKLRNLCLDWL
  QPETRTKEEIIELLVLEQYLTIIPEKLKPWVRAKKPENCEKLVTLLENYKEMYQPEDDNNSDVTSDDDMTRNRRE
  SSPPHSVHSFSDRDWDRRGRSRDMEPRDRWSHTRNPRSRMPPRDLSLPVVAKTSFEMDREDDRDSRAYESRSQDA
  ESYQNVVDLAEDRKPHNTIQDNMENYRKLLSLVQLAEDDGHSHMTQGHSSRSKRSAYPSTSRGLKTMPEAKKSTH
  RRGICEDESSHGVIMEKFIKDVSRSSKSGRARESSDRSQRFPRMSDDNWKDISLNKRESVIQQRVYEGNAFRGGF
  RFNSTLVSRKRVLERKRRYHFDTDGKGSIHDQKGCPRKKPFECGSEMRKAMSVSSLSSLSSPSFTESQPIDFGAM
  PYVCDECGRSFSVISEFVEHQIMHTRENLYEYGESFIHSVAVSEVQKSQVGGKRFECKDCGETFNKSAALAEHRK
  IHARGYLVECKNQECEEAFMPSPTFSELQKIYGKDKFYECRVCKETFLHSSALIEHQKIHFGDDKDNEREHERER
  ERERGETFRPSPALNEFQKMYGKEKMYECKVCGETFLHSSSLKEHQKIHTRGNPFENKGKVCEETFIPGQSLKRR
  QKTYNKEKLCDFTDGRDAFMQSSELSEHQKIHSRKNLFEGRGYEKSVIHSGPFTESQKSHTITRPLESDEDEKAF
  TISSNPYENQKIPTKENVYEAKSYERSVIHSLASVEAQKSHSVAGPSKPKVMAESTIQSFDAINHQRVRAGGNTS
  EGREYSRSVIHSLVASKPPRSHNGNELVESNEKGESSIYISDLNDKRQKIPARENPCEGGSKNRNYEDSVIQSVF
  RAKPQKSVPGEGSGEFKKDGEFSVPSSNVREYQKARAKKKYIEHRSNETSVIHSLPFGEQTFRPRGMLYECQECG
  ECFAHSSDLTEHQKIHDREKPSGSRNYEWSVIRSLAPTDPQTSYAQEQYAKEQARNKCKDFRQFFATSEDLNTNQ
  KIYDQEKSHGEESQGENTDGEETHSEETHGQETIEDPVIQGSDMEDPQKDDPDDKIYECEDCGLGFVDLTDLTDH
  QKVHSRKCLVDSREYTHSVIHTHSISEYQRDYTGEQLYECPKCGESFIHSSFLFEHQRIHEQDQLYSMKGCDDGF
  IALLPMKPRRNRAAERNPALAGSAIRCLLCGQGFIHSSALNEHMRLHREDDLLEQSQMAEEAIIPGLALTEFQRS
  QTEERLFECAVCGESFVNPAELADHVTVHKNEPYEYGSSYTHTSFLTEPLKGAIPFYECKDCGKSFIHSTVLTKH
  KELHLEEEEEDEAAAAAAAAAQEVEANVHVPQVVLRIQGLNVEAAEPEVEAAEPEVEAAEPEVEAAEPNGEAEGP
  DGEAAEPIGEAGQPNGEAEQPNGDADEPDGAGIEDPEERAEEPEGKAEEPEGDADEPDGVGIEDPEEGEDQEIQV
  EEPYYDCHECTETFTSSTAFSEHLKTHASMIIFEPANAFGECSGYIERASTSTGGANQADEKYFKCDVCGQLFND
  RLSLARHQNTHTG

• Structural information:
  • Protein Domains: SCAN (46-128)
  • Interpro: IPR003309  IPR038269  IPR036236  IPR013087  
  • Prosite: PS50804 PS00028 PS50157
  • CDD: cd07936
  • PDB: 4BHX
  • PDBsum: 4BHX
  • DIP: 38426
  • STRING: ENSP00000326581
• Other Databases: GeneCards:  PEG3  Malacards:  PEG3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0000981	RNA polymerase II transcription factor activity, sequence-specific DNA binding	IBA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0000981	RNA polymerase II transcription factor activity, sequence-specific DNA binding	IBA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0000981	RNA polymerase II transcription factor activity, sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Male factor infertility	MIK: 19880108
Oligozoospermia	MIK: 19880108
Male factor infertility	MIK: 19880108
Oligozoospermic	MIK: 19880108

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
19880108	Male factor infertility			25 (10 oligozoospermic, 10 abnormal protamine replacement patients, 5 known fertile donors)	Male infertility	LIT1 MEST SNRPN PLAGL1 PEG3 H19 and IGF2
19880108	Oligozoospermic				Male infertility	LIT1 MEST SNRPN PLAGL1 PEG3 H19 and IGF2